Research Publications
Diagnosing Transient Erythroblastopenia of Childhood: A Review for Pediatricians. Mejía Sang ME, Mendez M. Pediatr Ann. 2024 Jan;53(1):e34-e36. doi: 10.3928/19382359-20231113-02. Epub 2024 Jan 1. PMID: 38194662.
Transient erythroblastopenia due to a GATA1 variant in an infant female. Yamashita M, Tomoda T, Mizuo A, Isoda T, Egawa M, Yoshida M, Toki T, Kudo K, Terui K, Ito E, Morio T, Takagi M. Pediatr Blood Cancer. 2024 Mar;71(3):e30834. doi: 10.1002/pbc.30834. Epub 2023 Dec 27. PMID: 38149846.
Correction: Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia. Liu Y, Karlsson S. Leukemia. 2024 Jan;38(1):228. doi: 10.1038/s41375-023-02101-w. Erratum for: Leukemia. 2024 Jan;38(1):1-9. PMID: 38092976; PMCID: PMC10776392.
Refractory Pure Red Blood Cell Aplasia Secondary to Major ABO-Incompatible Allogeneic Stem Cell Transplantation Successfully Treated With Daratumumab. Wu C, Manchen P, Edelman A, Husnain M, Katsanis E, Fuchs D, Stephens L, Khurana S. J Hematol. 2023 Dec;12(6):277-282. doi: 10.14740/jh1195. Epub 2023 Dec 9. PMID: 38188476; PMCID: PMC10769644.
Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes? Hudda Z, Myers KC. Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):141-148. doi: 10.1182/hematology.2023000471. PMID: 38066882; PMCID: PMC10727016.
The metabolic basis of inherited neutropenias. Oyarbide U, Crane GM, Corey SJ. Br J Haematol. 2024 Jan;204(1):45-55. doi: 10.1111/bjh.19192. Epub 2023 Dec 4. PMID: 38049194.
Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH). Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M. Curr Res Transl Med. 2023 Oct-Dec;71(4):103423. doi: 10.1016/j.retram.2023.103423. Epub 2023 Oct 18. PMID: 38016422.
A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature. Dorenkamp M, Porret N, Diepold M, Rovó A. Medicina (Kaunas). 2023 Nov 5;59(11):1953. doi: 10.3390/medicina59111953. PMID: 38004002; PMCID: PMC10673431.
The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review. Children (Basel). Pelagiadis I, Kyriakidis I, Katzilakis N, Kosmeri C, Veltra D, Sofocleous C, Glentis S, Kattamis A, Makis A, Stiakaki E. 2023 Nov 15;10(11):1812. doi: 10.3390/children10111812. PMID: 38002903; PMCID: PMC10670567.
Diamond-Blackfan anemia with very late and fatal onset aplasia in a 55-year-old patient with RPL11 mutation. Strasser B, Heibl S, Hörmann G, Haushofer A. Ann Hematol. 2023 Nov 23. doi: 10.1007/s00277-023-05553-3. Epub ahead of print. PMID: 37993587.
Monolobated megakaryocytes in Diamond-Blackfan anemia with RPL5 mutation at disease presentation mimicking myelodysplastic syndrome. Setiadi A, Singh C, Li A, Au N, Amid A. Pediatr Blood Cancer. 2024 Feb;71(2):e30771. doi: 10.1002/pbc.30771. Epub 2023 Nov 21. PMID: 37988264.
Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia. Liu Y, Karlsson S. Leukemia. 2024 Jan;38(1):1-9. doi: 10.1038/s41375-023-02082-w. Epub 2023 Nov 16. Erratum in: Leukemia. 2023 Dec 13;: PMID: 37973818; PMCID: PMC10776401.
Probable digenic inheritance of Diamond-Blackfan anemia. Furuta Y, Tinker RJ, Gulsevin A, Neumann SM, Hamid R, Cogan JD, Rives L, Liu Q, Chen HC, Joos KM, Phillips JA 3rd; Undiagnosed Diseases Network. Am J Med Genet A. 2023 Oct 27. doi: 10.1002/ajmg.a.63454. Epub ahead of print. PMID: 37897121.
PGT-HLA programmes for the cure of a sick sibling: clinical strategies for this challenging search. Reprod Biomed Online. Caligara C, Santamaría-López E, Hernáez MJ, Ortiz-Vallecillo A, Ruíz M, Prados N, Gonzalez-Ravina C, Fernández-Sánchez M. 2023 Dec;47(6):103400. doi: 10.1016/j.rbmo.2023.103400. Epub 2023 Sep 12. PMID: 37879124.
p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes. Rakotopare J, Toledo F. Int J Mol Sci. 2023 Oct 6;24(19):14940. doi: 10.3390/ijms241914940. PMID: 37834388; PMCID: PMC10573108.
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1. Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. J Med Genet. 2023 Oct 13:jmg-2023-109444. doi: 10.1136/jmg-2023-109444. Epub ahead of print. PMID: 37833059.
Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science. Bhoopalan SV, Suryaprakash S, Sharma A, Wlodarski MW. Front Oncol. 2023 Sep 11;13:1236038. doi: 10.3389/fonc.2023.1236038. PMID: 37752993; PMCID: PMC10518466.
ZAKα/P38 kinase signaling pathway regulates hematopoiesis by activating the NLRP1 inflammasome. Rodríguez-Ruiz L, Lozano-Gil JM, Naranjo-Sánchez E, Martínez-Balsalobre E, Martínez-López A, Lachaud C, Blanquer M, Phung TK, García-Moreno D, Cayuela ML, Tyrkalska SD, Pérez-Oliva AB, Mulero V. EMBO Mol Med. 2023 Oct 11;15(10):e18142. doi: 10.15252/emmm.202318142. Epub 2023 Sep 7. PMID: 37675820; PMCID: PMC10565642.
A systematic approach identifies p53-DREAM pathway target genes associated with blood or brain abnormalities. Rakotopare J, Lejour V, Duval C, Eldawra E, Escoffier H, Toledo F. Dis Model Mech. 2023 Oct 1;16(10):dmm050376. doi: 10.1242/dmm.050376. Epub 2023 Oct 11. PMID: 37661832; PMCID: PMC10581385.
The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis. Kawashima N, Bezzerri V, Corey SJ. Biomolecules. 2023 Aug 16;13(8):1249. doi: 10.3390/biom13081249. PMID: 37627314; PMCID: PMC10452082.
Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist. Li J, Bledsoe JR. Semin Diagn Pathol. 2023 Jun 28:S0740-2570(23)00075-8. doi: 10.1053/j.semdp.2023.06.006. Epub ahead of print. PMID: 37507252.
Defects in Bone and Bone Marrow in Inherited Anemias: the Chicken or the Egg. Willimann R, Chougar C, Wolfe LC, Blanc L, Lipton JM. Curr Osteoporos Rep. 2023 Jul 12. doi: 10.1007/s11914-023-00809-3. Epub ahead of print. PMID: 37436584.
Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene. Dashraath P, Lim KMX, Chin HL, Sidek A, Lian DWQ, Gosavi A, Koh PL, Biswas A, Goh DLM. Lancet. 2023 Jul 8;402(10396):141. doi: 10.1016/S0140-6736(23)01141-8. PMID: 37422302.
Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations. Li J, Su Y, Chen L, Lin Y, Ru K. Int J Lab Hematol. 2023 Jun 28. doi: 10.1111/ijlh.14126. Epub ahead of print. PMID: 37376976.
The transcriptomic landscape of normal and ineffective erythropoiesis at single-cell resolution. Doty RT, Lausted CG, Munday AD, Yang Z, Yan X, Meng C, Tian Q, Abkowitz JL. Blood Adv. 2023 Jun 23:bloodadvances.2023010382. doi: 10.1182/bloodadvances.2023010382. Epub ahead of print. PMID: 37352261.
Pure Red Cell Aplasia Encountered in a Tertiary Care Hematology Laboratory: A Series of Nine Distinctive Cases. Kala M, Das K, Baveja A, Raturi M, Dhebane M, Ahmad S, Mehrotra M. J Lab Physicians. 2022 Oct 20;15(2):316-320. doi: 10.1055/s-0042-1757584. PMID: 37323590
Haploinsufficiency of the essential gene Rps12 causes defects in erythropoiesis and hematopoietic stem cell maintenance. Folgado-Marco V, Ames K, Chuen J, Gritsman K, Baker NE. Haploinsufficiency of the essential gene Rps12 causes defects in erythropoiesis and hematopoietic stem cell maintenance. Elife. 2023 Jun 5;12:e69322. doi: 10.7554/eLife.69322. Epub ahead of print. PMID: 37272618.
Targeting of Calbindin 1 rescues erythropoiesis in a human model of Diamond Blackfan anemia. Wang N, LaVasseur C, Riaz R, Papoin J, Blanc L, Narla A. Targeting of Calbindin 1 rescues erythropoiesis in a human model of Diamond Blackfan anemia. Blood Cells Mol Dis. 2023 May 26;102:102759. doi: 10.1016/j.bcmd.2023.102759. Epub ahead of print. PMID: 37267698.
Ribosomal protein mutations and cell competition: autonomous and nonautonomous effects on a stress response. Kiparaki M, Baker NE. Ribosomal protein mutations and cell competition: autonomous and nonautonomous effects on a stress response. Genetics. 2023 Jun 2:iyad080. doi: 10.1093/genetics/iyad080. Epub ahead of print. PMID: 37267156.
Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease. Iskander D, Roy NBA, Payne E, Drasar E, Hennessy K, Harrington Y, Christodoulidou C, Karadimitris A, Batkin L, de la Fuente J. Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease. Blood Rev. 2023 May 8:101097. doi: 10.1016/j.blre.2023.101097. Epub ahead of print. PMID: 37263874.
Prevalence and clinical expression of germline predisposition to myeloid neoplasms in adults with marrow hypocellularity. Molteni E, Bono E, Galli A, Elena C, Ferrari J, Fiorelli N, Pozzi S, Ferretti VV, Sarchi M, Rizzo E, Camilotto V, Boveri E, Cazzola M, Malcovati L. Prevalence and clinical expression of germline predisposition to myeloid neoplasms in adults with marrow hypocellularity. Blood. 2023 May 22:blood.2022019304. doi: 10.1182/blood.2022019304. Epub ahead of print. PMID: 37216690.
Engineered human Diamond-Blackfan anemia disease model confirms therapeutic effects of clinically applicable lentiviral vector at single-cell resolution. Liu Y, Schmiderer L, Hjort M, Lang S, Bremborg T, Rydström A, Schambach A, Larsson J, Karlsson S. Engineered human Diamond-Blackfan anemia disease model confirms therapeutic effects of clinically applicable lentiviral vector at single-cell resolution. Haematologica. 2023 May 18. doi: 10.3324/haematol.2022.282068. Epub ahead of print. PMID: 37199130.
Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces. Valli R, Penzo M. Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces. Front Genet. 2023 Apr 12;14:1194788. doi: 10.3389/fgene.2023.1194788. PMID: 37124624.
Ovarian tissue cryopreservation in the pediatric with rare diseases- experience from China's first and the largest ovarian tissue cryobank. Ruan X, Cheng J, Du J, Jin F, Gu M, Ju R, Wu Y, Li L, Wang Y, Jiang L, Yang Y, Li Y, Wang Z, Ma J, Zhang M, Mueck AO. Front Endocrinol (Lausanne). 2023 Apr 3;14:1137940. doi: 10.3389/fendo.2023.1137940. PMID: 37077363.
Novel ribosomal protein L26 variant and modeling in a patient with Diamond-Blackfan anemia: Case report. Peñaloza D, Paredes D, Arias-Almeida B, Hosomichi K, Reyes C, Romero VI. Pediatr Blood Cancer. 2023 Apr 19:e30368. doi: 10.1002/pbc.30368. Epub ahead of print. PMID: 37073646.
SATB1 chromatin loops regulate Megakaryocyte/Erythroid Progenitor Expansion by facilitating HSP70 and GATA1 induction. Wilkes MC, Chae HD, Scanlon V, Cepika AM, Wentworth EP, Saxena M, Eskin A, Chen Z, Glader B, Roncarolo MG, Nelson SF, Sakamoto KM. Stem Cells. 2023 Mar 29:sxad025. doi: 10.1093/stmcls/sxad025. Epub ahead of print. PMID: 36987811.
De novo intronic GATA1 mutation leads to Diamond-Blackfan Anemia like disease.Liu S, Pei K, Chen L, Wu J, Chen Q, Zhang J, Zhang H, Wang C. Front Genet. 2023 Feb 10;14:1068923. doi: 10.3389/fgene.2023.1068923. PMID: 36845397.
Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review. Medicina (Kaunas).Moisa SM, Spoiala EL, Trandafir LM, Butnariu LI, Miron IC, Ciobanu A, Mocanu A, Ivanov A, Ciongradi CI, Sarbu I, Ciubara A, Rusu CD, Luca AC, Burlacu A. 2023 Feb 14;59(2):362. doi: 10.3390/medicina59020362. PMID: 36837563.
Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A. Gonzalez-Menendez P, Phadke I, Olive ME, Joly A, Papoin J, Yan H, Galtier J, Platon J, Kang SWS, McGraw KL, Daumur M, Pouzolles M, Kondo T, Boireau S, Paul F, Young DJ, Lamure S, Mirmira RG, Narla A, Cartron G, Dunbar CE, Boyer-Clavel M, Porat-Shliom N, Dardalhon V, Zimmermann VS, Sitbon M, Dever T, Mohandas N, Da Costa LM, Udeshi ND, Blanc L, Kinet S, Taylor N. Blood. 2023 Feb 3:blood.2022017584. doi: 10.1182/blood.2022017584. Epub ahead of print. PMID: 36735910.
Utility of Whole Exome Sequencing in the Early Diagnosis of Atypical Diamond-Blackfan Anemia. Al-Mulla A, Austin F, Helou M. J Pediatr Hematol Oncol. 2023 Apr 1;45(3):159-161. doi: 10.1097/MPH.0000000000002616. Epub 2023 Jan 9. PMID: 36706306.
Endocrine disorders in patients with transfusion-dependent hereditary anemias. Vitebskaya AV, Bugakova ES, Pisareva EA, Tikhonovich YV. Probl Endokrinol (Mosk). 2022 Jul 27;68(6):121-130. Russian. doi: 10.14341/probl13149. PMID: 36689717.
Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation. Piantanida N, La Vecchia M, Sculco M, Talmon M, Palattella G, Kurita R, Nakamura Y, Ronchi AE, Dianzani I, Ellis SR, Fresu LG, Aspesi A. Front Genet. 2022 Dec 12;13:1045236. doi: 10.3389/fgene.2022.1045236. PMID: 36579335.
Transplantation using targeted busulfan for Diamond-Blackfan anemia. Kato S, Nakano Y, Hidaka M, Sekiguchi M, Watanabe K, Fujimura J, Kato M. Pediatr Int. 2023 Jan;65(1):e15440. doi: 10.1111/ped.15440. PMID: 36495472.
Transfusion burden in early childhood plays an important role in iron overload in Diamond-Blackfan anaemia. de Wilde JRA, van Dooijeweert B, van Vuren AJ, Huisman EJ, Smiers FJ, van der Veer A, van Wijk R, van Solinge WW, Nieuwenhuis EES, van Beers EJ, Bartels M. EJHaem. 2022 Aug 30;3(4):1300-1304. doi: 10.1002/jha2.524. PMID: 36467824.
Reducing the aneuploid cell burden - cell competition and the ribosome connection. Baker NE, Montagna C. Dis Model Mech. 2022 Nov 1;15(11):dmm049673. doi: 10.1242/dmm.049673. Epub 2022 Nov 29. PMID: 36444717.
An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity. Bhoopalan SV, Yen JS, Mayuranathan T, Mayberry KD, Yao Y, Lillo Osuna MA, Jang Y, Liyanage JS, Blanc L, Ellis SR, Wlodarski MW, Weiss MJ. JCI Insight. 2023 Jan 10;8(1):e161810. doi: 10.1172/jci.insight.161810. PMID: 36413407.
Animal models of Diamond-Blackfan anemia: updates and challenges. Liu YL, Shibuya A, Glader B, Wilkes MC, Barna M, Sakamoto KM. Haematologica. 2022 Nov 17. doi: 10.3324/haematol.2022.282042. Epub ahead of print. PMID: 36384250.
Gata1s mutant mice display persistent defects in the erythroid lineage. Ling T, Zhang K, Yang J, Gurbuxani S, Crispino JD. Blood Adv. 2022 Nov 9:bloodadvances.2022008124. doi: 10.1182/bloodadvances.2022008124. Epub ahead of print. PMID: 36350717.
L’érythroblastopénie : diagnostic, classification, traitement [Pure red cell aplasia: Diagnosis, classification and treatment]. Lobbes H. Rev Med Interne. 2023 Jan;44(1):19-26. French. doi: 10.1016/j.revmed.2022.10.385. Epub 2022 Nov 3. PMID: 36336519.
Molecular etiology of defective nuclear and mitochondrial ribosome biogenesis: Clinical phenotypes and therapy. Jerome MS, Nanjappa DP, Chakraborty A, Chakrabarty S. Biochimie. 2023 Apr;207:122-136. doi: 10.1016/j.biochi.2022.11.001. Epub 2022 Nov 4. PMID: 36336106.
Prevalence and risk factors of obesity in children with Diamond-Blackfan anemia. Yi MH, Wan Y, Cheng SQ, Gong XW, Yin ZX, Li J, Gao YY, Wu C, Zong SY, Chang LX, Chen YM, Zheng RX, Zhu XF. Zhongguo Dang Dai Er Ke Za Zhi. 2022 Oct 15;24(10):1143-1148. Chinese. doi: 10.7499/j.issn.1008-8830.2206070. PMID: 36305116.
Late-onset familial Diamond-Blackfan anemia with neutropenia caused by RPL35A variant. Tamefusa K, Muraoka M, Washio K, Wakamatsu M, Shimada A. Pediatr Int. 2022 Jan;64(1):e15275. doi: 10.1111/ped.15275. PMID: 36257617.
Bone marrow failure and TP53 activating mutations. Ito E. Rinsho Ketsueki. 2022;63(9):1115-1125. Japanese. doi: 10.11406/rinketsu.63.1115. PMID: 36198537.
Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia. Skorodumova LO, Davydenko KA, Filatova AY, Skoblov MY, Kulemin NA, Khadzhieva MB, Zakharova ES, Gordeeva VD, Smetanina NS, Fedyushkina IV, Anastasevich LA, Larin SS. Clin Genet. 2023 Jan;103(1):93-96. doi: 10.1111/cge.14221. Epub 2022 Sep 12. PMID: 36057918.
Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1. Chen T, Zhang Q, Shang X, Zou S, Qin J, Li K, Lin B, Tao Z, Long X, Xu X. Clin Genet. 2022 Dec;102(6):548-554. doi: 10.1111/cge.14218. Epub 2022 Sep 13. PMID: 36029112.
Diamond-Blackfan anaemia with iron overload: A serious issue. Quarello P, Ramenghi U, Fagioli F. Br J Haematol. 2022 Oct;199(2):171-172. doi: 10.1111/bjh.18393. Epub 2022 Aug 5. PMID: 35929529.
Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19. Cole S, Giri N, Alter BP, Gianferante DM. Front Genet. 2022 Jul 18;13:914141. doi: 10.3389/fgene.2022.914141. PMID: 35923690.
Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress. Kubickova A, Maceckova Z, Vojta P, Ondra M, Volejnikova J, Koralkova P, Jungova A, Jahoda O, Mojzikova R, Hadacova I, Cermak J, Horvathova M, Pospisilova D, Hajduch M. Blood Cells Mol Dis. 2022 Nov;97:102690. doi: 10.1016/j.bcmd.2022.102690. Epub 2022 Jul 6. PMID: 35871033.
Agranulocytosis in patients with Diamond-Blackfan anaemia (DBA) treated with deferiprone for post-transfusion iron overload: A retrospective study of the French DBA cohort. Lecornec N, Castex MP, Réguerre Y, Moreau P, Marie I, Garçon L, Da Costa L, Leblanc T. Br J Haematol. 2022 Oct;199(2):285-288. doi: 10.1111/bjh.18366. Epub 2022 Jul 19. PMID: 35852515.
Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond-Blackfan anaemia. Kobayashi A, Ohtaka R, Toki T, Hara J, Muramatsu H, Kanezaki R, Takahashi Y, Sato T, Kamio T, Kudo K, Sasaki S, Yoshida T, Utsugisawa T, Kanno H, Yoshida K, Nannya Y, Takahashi Y, Kojima S, Miyano S, Ogawa S, Terui K, Ito E. EJHaem. 2022 Jan 10;3(1):163-167. doi: 10.1002/jha2.374. PMID: 35846220.
Differential diagnosis of inherited bone marrow failure syndromes in erythrocyte disorders. Hama A. Rinsho Ketsueki. 2022;63(6):590-599. Japanese. doi: 10.11406/rinketsu.63.590. PMID: 35831193.
Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes. Sakaguchi H, Yoshida N. Int J Hematol. 2022 May 28. doi: 10.1007/s12185-022-03362-4. Online ahead of print. PMID: 35633493 Review.
Turning up the HEAT(R3) in Diamond-Blackfan anemia. Iskander D, Warren AJ. Blood. 2022 May 26;139(21):3101-3102. doi: 10.1182/blood.2022015881. PMID: 35616991 No abstract available.
Inherited bone marrow failure in the pediatric patient. Dokal I, Tummala H, Vulliamy TJ. Blood. 2022 May 23:blood.2020006481. doi: 10.1182/blood.2020006481. Online ahead of print. PMID: 35605178
Pure Red Cell Aplasia. Mangla A, Hamad H. 2022 May 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–.PMID: 31751023
DNA Methyl Transferase 3A (DNMT3A) Mutation Presenting as Isolated Pure Red Cell Aplasia. Sidda A, Manu G, Alsharedi M, Dotson J, Nahar N. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221097523. doi: 10.1177/23247096221097523. PMID: 35593442
Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia. Hiregange DG, Rivalta A, Yonath A, Zimmerman E, Bashan A, Yonath H. FEBS Open Bio. 2022 May 18. doi: 10.1002/2211-5463.13444. Online ahead of print. PMID: 35583751
Decoding the pathogenesis of Diamond-Blackfan anemia using single-cell RNA-seq. Wang B, Wang C, Wan Y, Gao J, Ma Y, Zhang Y, Tong J, Zhang Y, Liu J, Chang L, Xu C, Shen B, Chen Y, Jiang E, Kurita R, Nakamura Y, Lim KC, Engel JD, Zhou J, Cheng T, Zhu X, Zhu P, Shi L. Cell Discov. 2022 May 10;8(1):41. doi: 10.1038/s41421-022-00389-z. PMID: 35534476
Genetics and genomics of bone marrow failure syndrome. Kim HY, Kim HJ, Kim SH. Blood Res. 2022 Apr 30;57(S1):86-92. doi: 10.5045/br.2022.2022056. PMID: 35483932
Cell autonomous and non-autonomous consequences of deviations in translation machinery on organism growth and the connecting signalling pathways. Surya A, Sarinay-Cenik E. Open Biol. 2022 Apr;12(4):210308. doi: 10.1098/rsob.210308. Epub 2022 Apr 27. PMID: 35472285
Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis. Chirita-Emandi A, Petrescu CA, Zimbru CG, Stoica F, Marian C, Ciubotaru A, Bataneant M, Puiu M. Front Genet. 2022 Apr 8;13:870233. doi: 10.3389/fgene.2022.870233. eCollection 2022. PMID: 35464845.
Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond-Blackfan anemia. Wilkes MC, Scanlon V, Shibuya A, Cepika AM, Eskin A, Chen Z, Narla A, Glader B, Roncarolo MG, Nelson SF, Sakamoto KM. Exp Hematol. 2022 Jul;111:66-78. doi: 10.1016/j.exphem.2022.04.005. Epub 2022 Apr 20. PMID: 35460833
Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell-extrinsic contributions to erythropoiesis. Doty RT, Fan X, Young DJ, Liang J, Singh K, Pakbaz Z, Desmond R, Young-Baird SK, Chandrasekharappa SC, Donovan FX, Phelps SR, Winkler T, Dunbar CE, Abkowitz JL. Blood. 2022 Jun 9;139(23):3439-3449. doi: 10.1182/blood.2021013507. PMID: 35349664.
Dedicated chaperones coordinate co-translational regulation of ribosomal protein production with ribosome assembly to preserve proteostasis. Pillet B, Méndez-Godoy A, Murat G, Favre S, Stumpe M, Falquet L, Kressler D. Elife. 2022 Mar 31;11:e74255. doi: 10.7554/eLife.74255. PMID: 35357307
GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease. van Dooijeweert B, Kia SK, Dahl N, Fenneteau O, Leguit R, Nieuwenhuis E, van Solinge W, van Wijk R, Da Costa L, Bartels M. Genes (Basel). 2022 Feb 28;13(3):447. doi: 10.3390/genes13030447. PMID: 35328001.
Ribosomal protein L5 facilitates rDNA-bundled condensate and nucleolar assembly. Matsumori H, Watanabe K, Tachiwana H, Fujita T, Ito Y, Tokunaga M, Sakata-Sogawa K, Osakada H, Haraguchi T, Awazu A, Ochiai H, Sakata Y, Ochiai K, Toki T, Ito E, Goldberg IG, Tokunaga K, Nakao M, Saitoh N. Life Sci Alliance. 2022 Mar 23;5(7):e202101045. doi: 10.26508/lsa.202101045. Print 2022 Jul. PMID: 35321919.
Challenges in the management of pregnancy complicated by maternal Diamond Blackfan Anaemia: A case report. Tabassum S, Shah FA, O’Hare R. J Pak Med Assoc. 2022 Feb;72(2):357-359. doi: 10.47391/JPMA.1805. PMID: 35320193
The Ribosomal Protein L5 Functions During Xenopus Anterior Development Through Apoptotic Pathways. Schreiner C, Kernl B, Dietmann P, Riegger RJ, Kühl M, Kühl SJ. Front Cell Dev Biol. 2022 Feb 22;10:777121. doi: 10.3389/fcell.2022.777121. eCollection 2022. PMID: 35281111.
Congenital Disorders of the Pediatric Thumb. Nguyen JL, Ho CA. JBJS Rev. 2022 Mar 1;10(3). doi: 10.2106/JBJS.RVW.21.00147. PMID: 35230999.
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia. O’Donohue MF, Da Costa L, Lezzerini M, Unal S, Joret C, Bartels M, Brilstra E, Scheijde-Vermeulen M, Wacheul L, De Keersmaecker K, Vereecke S, Labarque V, Saby M, Lefevre SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc T, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DLJ, MacInnes AW. Blood. 2022 May 26;139(21):3111-3126. doi: 10.1182/blood.2021011846. PMID: 35213692
The chaperone Tsr2 regulates Rps26 release and reincorporation from mature ribosomes to enable a reversible, ribosome-mediated response to stress. Yang YM, Karbstein K. Sci Adv. 2022 Feb 25;8(8):eabl4386. doi: 10.1126/sciadv.abl4386. Epub 2022 Feb 25. PMID: 35213229
Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems. Macečková Z, Kubíčková A, De Sanctis JB, Hajdúch M. Int J Mol Sci. 2022 Feb 8;23(3):1886. doi: 10.3390/ijms23031886. PMID: 35163808
Diamond Blackfan Anemia. Gadhiya K, Wills C. 2022 Jan 31. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–.PMID: 31424886
De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia. Fedorova D, Ovsyannikova G, Kurnikova M, Pavlova A, Konyukhova T, Pshonkin A, Smetanina N. Pediatr Blood Cancer. 2022 Apr;69(4):e29558. doi: 10.1002/pbc.29558. Epub 2022 Jan 27. PMID: 35084091
Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report. Mars-Holt E, Murdoch A, Frugoli A, Utz B, Kong L. Am J Case Rep. 2022 Jan 17;23:e932649. doi: 10.12659/AJCR.932649. PMID: 35038319
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype. Lebaron S, O’Donohue MF, Smith SC, Engleman KL, Juusola J, Safina NP, Thiffault I, Saunders CJ, Gleizes PE. Hum Mutat. 2022 Mar;43(3):389-402. doi: 10.1002/humu.24323. Epub 2022 Jan 23. PMID: 34961992
Poor outcome after hematopoietic stem cell transplantation of patients with unclassified inherited bone marrow failure syndromes. Lim YJ, Arbiv OA, Kalbfleisch ME, Klaassen RJ, Fernandez C, Rayar M, Steele M, Lipton JH, Cuvelier G, Pastore YD, Silva M, Brossard J, Michon B, Abish S, Sinha R, Corriveau-Bourque C, Breakey VR, Tole S, Goodyear L, Sung L, Zlateska B, Cada M, Dror Y. Eur J Haematol. 2022 Apr;108(4):278-287. doi: 10.1111/ejh.13733. Epub 2022 Jan 13. PMID: 34897809
Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia. Lipton JM, Molmenti CLS, Desai P, Lipton A, Ellis SR, Vlachos A. Genes (Basel). 2021 Dec 26;13(1):56. doi: 10.3390/genes13010056. PMID: 35052397
Diamond–Blackfan anemia. Da Costa LM, Marie I, Leblanc TM. Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440
Mechanisms of somatic transformation in inherited bone marrow failure syndromes. Choijilsuren HB, Park Y, Jung M. Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):390-398. doi: 10.1182/hematology.2021000271. PMID: 34889377
A Rare Case of Hypoparathyroidism and Myxedema Coma in a Patient With Diamond-Blackfan Anemia. Ruggiero RA, Iqbal QZ, Akram A, Dendy J, Zaidan J. Cureus. 2021 Nov 27;13(11):e19941. doi: 10.7759/cureus.19941. eCollection 2021 Nov. PMID: 34976531
Craniofacial Characteristics and Orthodontic Treatment of Diamond Blackfan Syndrome: Two Case Reports. Sasaki S, Kitaura H, Goto M, Yoshida M, Mizoguchi I. Cleft Palate Craniofac J. 2021 Nov 17:10556656211053774. doi: 10.1177/10556656211053774. Online ahead of print. PMID: 34787488
Targeting elevated heme levels to treat a mouse model for Diamond-Blackfan Anemia. Sjögren SE, Chen J, Mattebo A, Alattar AG, Karlsson H, Siva K, Soneji S, Tedgård U, Chen JJ, Gram M, Flygare J. Exp Hematol. 2022 Jan;105:50-61. doi: 10.1016/j.exphem.2021.10.005. Epub 2021 Oct 30. PMID: 34757171
[New insights into inherited bone marrow failure syndrome]. Ito E, Toki T, Kamio T, Terui K. Rinsho Ketsueki. 2021;62(10):1455-1464. doi: 10.11406/rinketsu.62.1455. PMID: 34732617
The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis. Lonetti A, Indio V, Dianzani I, Ramenghi U, Da Costa L, Pospíšilová D, Migliaccio AR. Front Physiol. 2021 Oct 13;12:745032. doi: 10.3389/fphys.2021.745032. eCollection 2021. PMID: 34721069
Iron overload in inherited anaemias: why one size can’t fit all. Roy NBA. Br J Haematol. 2022 Jan;196(2):266-267. doi: 10.1111/bjh.17905. Epub 2021 Oct 27. PMID: 34708402
[Deferasirox and Complex Proximal Tubulopathy. Presentation of two clinical cases]. Niño Taravilla C, Cervera Bravo Á, Otaola Arca H, Sevilla J, Aparicio López C. Andes Pediatr. 2021 Aug;92(4):584-589. doi: 10.32641/andespediatr.v92i4.3154. PMID: 34652377.
[Advances in bone marrow failure related ribosomopathies]. Li J, Wan Y, Zhu XF. Zhonghua Er Ke Za Zhi. 2021 Sep 2;59(9):799-803. doi: 10.3760/cma.j.cn112140-20210406-00296.PMID: 34645224
Using the Zebrafish as a Genetic Model to Study Erythropoiesis. Zhang Y, Chen M, Chen C. Int J Mol Sci. 2021 Sep 28;22(19):10475. doi: 10.3390/ijms221910475. PMID: 34638816
[Research Progress on Pathogenesis of Congenital Pure Red Cell Aplasia—Review]. Liu WY, Wang HQ, Shao ZH. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Oct;29(5):1654-1657. doi: 10.19746/j.cnki.issn.1009-2137.2021.05.045. PMID: 34627456
Guidelines for the monitoring and management of iron overload in patients with haemoglobinopathies and rare anaemias. Shah FT, Porter JB, Sadasivam N, Kaya B, Moon JC, Velangi M, Ako E, Pancham S. Br J Haematol. 2022 Jan;196(2):336-350. doi: 10.1111/bjh.17839. Epub 2021 Oct 6. PMID: 34617272 No abstract available.
Investigation of the molecular causes underlying physical abnormalities in Diamond-Blackfan anemia patients with RPL5 haploinsufficiency. Fukui Y, Hayano S, Kawanabe N, Wang Z, Shimada A, Saito MK, Asaka I, Kamioka H. Pathol Int. 2021 Dec;71(12):803-813. doi: 10.1111/pin.13168. Epub 2021 Sep 29. PMID: 34587661
Pearson syndrome in a child transplanted for Diamond-Blackfan anemia. Uygun V, Daloğlu H, Öztürkmen S, Karasu G, Yeşilipek A. Arch Argent Pediatr. 2021 Oct;119(5):e559-e561. doi: 10.5546/aap.2021.eng.e559. PMID: 34569763
Short Stature in Patients with Diamond-Blackfan Anemia: A Cross-Sectional Study. Wan Y, Gong X, Cheng S, Yin Z, Gao Y, Li J, Zong S, Zhang Y, Chen Y, Zheng R, Zhu X. J Pediatr. 2022 Jan;240:177-185. doi: 10.1016/j.jpeds.2021.09.015. Epub 2021 Sep 17. PMID: 34543620
Enzymatic Changes in Red Blood Cells of Diamond-Blackfan Anemia. Utsugisawa T, Uchiyama T, Toki T, Shimojima-Yamamoto K, Ohga S, Ito E, Kanno H. Tohoku J Exp Med. 2021 Sep;255(1):49-55. doi: 10.1620/tjem.255.49. PMID: 34526430
Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia. Iskander D, Wang G, Heuston EF, Christodoulidou C, Psaila B, Ponnusamy K, Ren H, Mokhtari Z, Robinson M, Chaidos A, Trivedi P, Trasanidis N, Katsarou A, Szydlo R, Palii CG, Zaidi MH, Al-Oqaily Q, Caputo VS, Roy A, Harrington Y, Karnik L, Naresh K, Mead AJ, Thongjuea S, Brand M, de la Fuente J, Bodine DM, Roberts I, Karadimitris A. Sci Transl Med. 2021 Sep 8;13(610):eabf0113. doi: 10.1126/scitranslmed.abf0113. Epub 2021 Sep 8. PMID: 34516827
Exploring the Rare Etiology of Severe Anemia in an Immunocompromised Patient. Joseph KD, Thota V, Bains A, Patel NS, Mustaqeem R, Mulla S, Thirumaran R, Trawinski J. Cureus. 2021 Jul 30;13(7):e16750. doi: 10.7759/cureus.16750. eCollection 2021 Jul. PMID: 34513373
[Diagnosis and management of pure red cell aplasia]. Fujishima N. Rinsho Ketsueki. 2021;62(8):931-937. doi: 10.11406/rinketsu.62.931. PMID: 34497233
A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia. Yu L, Lemay P, Ludlow A, Guyot MC, Jones M, Mohamed FF, Saroya GA, Panaretos C, Schneider E, Wang Y, Myers G, Khoriaty R, Li Q, Franceschi R, Engel JD, Kaartinen V, Rothstein TL, Justice MJ, Kibar Z, Singh SA. Blood Adv. 2021 Oct 26;5(20):4167-4178. doi: 10.1182/bloodadvances.2021004658. PMID: 34464976
Recommendations on hematopoietic stem cell transplantation for patients with Diamond-Blackfan anemia. On behalf of the Pediatric Diseases and Severe Aplastic Anemia Working Parties of the EBMT. Diaz-de-Heredia C, Bresters D, Faulkner L, Yesilipek A, Strahm B, Miano M, Dalle JH, Peffault de Latour R, Corbacioglu S. Bone Marrow Transplant. 2021 Dec;56(12):2956-2963. doi: 10.1038/s41409-021-01449-w. Epub 2021 Aug 31. PMID: 34462566
Alloimmunization in transfused patients with constitutional anemias in Norway. Furuseth MT, Alme C, Garvik LJ, Hellebostad M, Bechensteen AG, Akkök ÇA. Transfus Apher Sci. 2021 Oct;60(5):103257. doi: 10.1016/j.transci.2021.103257. Epub 2021 Aug 17. PMID: 34420880
Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes. Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM. Am J Hematol. 2021 Nov 1;96(11):1450-1460. doi: 10.1002/ajh.26321. Epub 2021 Aug 27. PMID: 34390506
The active component of ginseng, ginsenoside Rb1, improves erythropoiesis in models of Diamond-Blackfan anemia by targeting Nemo-like kinase. Wilkes MC, Jung K, Lee BE, Saxena M, Sathianathen RS, Mercado JD, Perez C, Flygare J, Narla A, Glader B, Sakamoto KM. J Biol Chem. 2021 Sep;297(3):100988. doi: 10.1016/j.jbc.2021.100988. Epub 2021 Jul 21. PMID: 34298020
Bone Marrow Failure. Moore CA, Krishnan K. 2021 Jul 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–.PMID: 29083589
Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature. Karaosmanoglu B, Kursunel MA, Uckan Cetinkaya D, Gumruk F, Esendagli G, Unal S, Taskiran EZ. Front Physiol. 2021 Jun 11;12:679919. doi: 10.3389/fphys.2021.679919. eCollection 2021.PMID: 34177624
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles. Brodie SA, Khincha PP, Giri N, Bouk AJ, Steinberg M, Dai J, Jessop L, Donovan FX, Chandrasekharappa SC, de Andrade KC, Maric I, Ellis SR, Mirabello L, Alter BP, Savage SA. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006015. doi: 10.1101/mcs.a006015. Print 2021 Aug. PMID: 34162668
Diamond–Blackfan Anemia. Sieff C. 2009 Jun 25 [updated 2021 Jun 17]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301769. Review.
Bone marrow transplantation without myeloablative conditioning in a mouse model for Diamond-Blackfan Anemia corrects the disease phenotype. Dahl M, Warsi S, Liu Y, Debnath S, Billing M, Siva K, Flygare J, Karlsson S. Exp Hematol. 2021 Jun 11:S0301-472X(21)00203-4. doi: 10.1016/j.exphem.2021.06.002. Online ahead of print. PMID: 34126174
The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics. Vogel N, Schmugge M, Renella R, Waespe N, Hengartner H; Swiss Paediatric Oncology Group (SPOG) Hematology Working Group. Eur J Pediatr. 2021 Jun 10. doi: 10.1007/s00431-021-04146-4. Online ahead of print. PMID: 34110484
Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry. Lipton JM, Molmenti CLS, Hussain M, Desai P, Florento M, Atsidaftos E, Vlachos A. Pediatr Blood Cancer. 2021 Jun 5:e28984. doi: 10.1002/pbc.28984. Online ahead of print. PMID: 34089224
Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia. An K, Zhou JB, Xiong Y, Han W, Wang T, Ye ZQ, Wu YD. Front Genet. 2021 May 24;12:650897. doi: 10.3389/fgene.2021.650897. eCollection 2021. PMID: 34108988
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Haematologica. 2021 May 1;106(5):1303-1310. doi: 10.3324/haematol.2020.246629. PMID: 32241839
Diamond-Blackfan Anemia: 2 Cases With a Twist. Kossiva L, Markande A, Vagianou F, Delaporta P, Kattamis A. J Pediatr Hematol Oncol. 2021 May 1;43(4):e539-e542. doi: 10.1097/MPH.0000000000001767. PMID: 32118814
Zebrafish, an In Vivo Platform to Screen Drugs and Proteins for Biomedical Use. Lee HC, Lin CY, Tsai HJ. Pharmaceuticals (Basel). 2021 May 24;14(6):500. doi: 10.3390/ph14060500.PMID: 34073947
Diamond-Blackfan Anemia: A Case Report and Review of the Literature. Dorn KM, Burns KD, Trout MAR, Ward DI, Wagner KJ, Meyer LR, Baack ML, Rodel RL.Neonatology. 2021 May 18:1-5. doi: 10.1159/000516030. Online ahead of print. PMID: 34004602
Diagnosing Diamond-Blackfan anaemia: ‘Vorsprung durch Technik’. Hills RK. Br J Haematol. 2021. PMID: 33997960 No abstract available.
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia. van Dooijeweert B, et al. Br J Haematol. 2021. PMID: 33997957
Unique Combination of Diamond-Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report. Tsukanov AS, Pikunov DY, Shubin VP, Barinov AA, Kashnikov VN, Shelygin YA, Kaprin AD, Filonenko EV, Sidorov DV, Maschan AA, Novichkova GA, Yasko LA, Raykina EV, Rumyantsev AG. Front Oncol. 2021 Apr 16;11:652696. doi: 10.3389/fonc.2021.652696. eCollection 2021. PMID: 33937060
Shock in the Setting of Diamond-Blackfan Anemia Relapse. Haddaden M, Husami S, Alom M, Pang Y, Imam Z, Keena D. Case Rep Cardiol. 2021 Apr 6;2021:6623119. doi: 10.1155/2021/6623119. eCollection 2021. PMID: 33927902
Whole exome sequencing of a breast tumor in a patient with Diamond Blackfan anemia. Narla A, Ruddy KJ, Ebert BL, Mar B. Blood Cells Mol Dis. 2021 Jul;89:102566. doi: 10.1016/j.bcmd.2021.102566. Epub 2021 Apr 1. PMID: 33862369 No abstract available.
Correction: Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia. Koyamaishi S, Kamio T, Kobayashi A, Sato T, Kudo K, Sasaki S, Kanezaki R, Hasegawa D, Muramatsu H, Takahashi Y, Sasahara Y, Hiramatsu H, Kakuda H, Tanaka M, Ishimura M, Nishi M, Ishiguro A, Yabe H, Sarashina T, Yamamoto M, Yuza Y, Hyakuna N, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Miyano S, Ogawa S, Toki T, Terui K, Ito E. Bone Marrow Transplant. 2021 May;56(5):1218-1219. doi: 10.1038/s41409-020-01076-x. PMID: 33057144 No abstract available.
Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder. Panici B, Nakajima H, Carlston CM, Ozadam H, Cenik C, Cenik ES. Genomics. 2021 Apr 20;113(4):1895-1905. doi: 10.1016/j.ygeno.2021.04.020. Online ahead of print. PMID: 33862179
Pure Red Cell Aplasia. Mangla A, Hamad H. 2021 Apr 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–.PMID: 31751023
Eltrombopag Improves Erythroid Differentiation in a Human Induced Pluripotent Stem Cell Model of Diamond Blackfan Anemia. Qanash H, Li Y, Smith RH, Linask K, Young-Baird S, Hakami W, Keyvanfar K, Choy JS, Zou J, Larochelle A. Cells. 2021 Mar 26;10(4):734. doi: 10.3390/cells10040734. PMID: 33810313
Stem Cell Transplantation for Diamond-Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT). Miano M, Eikema DJ, de la Fuente J, Bosman P, Ghavamzadeh A, Smiers F, Sengeløv H, Yesilipek A, Formankova R, Bader P, Díaz Pérez MÁ, Bertrand Y, Niemeyer C, Diallo S, Ansari M, Bykova TA, Faraci M, Bonanomi S, Gozdzik J, Satti TM, Bodova I, Wölfl M, Rocha VG, Mellgren K, Rascon J, Holter W, Lange A, Meisel R, Beguin Y, Mozo Y, Kriván G, Sirvent A, Bruno B, Dalle JH, Onofrillo D, Giardino S, Risitano AM, de Latour RP, Dufour C. Transplant Cell Ther. 2021 Mar;27(3):274.e1-274.e5. doi: 10.1016/j.jtct.2020.12.024. Epub 2020 Dec 25. PMID: 33781541
Diamond Blackfan Anemia. Gadhiya K, Budh DP. 2021 Mar 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan– PMID: 31424886
Successful unrelated cord blood transplantation for Diamond–Blackfan anemia. Watakabe M, Ishihara T, Ochi S, Shima M, Nogami K. Pediatr Int. 2021 Mar;63(3):356-358. doi: 10.1111/ped.14429. Epub 2021 Mar 11. PMID: 33704870
Eukaryotic protein uS19: a component of the decoding site of ribosomes and a player in human diseases. Graifer D, Karpova G. Biochem J. 2021 Mar 12;478(5):997-1008. doi: 10.1042/BCJ20200950. PMID: 33661277
Methylated HNRNPK acts on RPS19 to regulate ALOX15 synthesis in erythropoiesis. Naarmann-de Vries IS, Senatore R, Moritz B, Marx G, Urlaub H, Niessing D, Ostareck DH, Ostareck-Lederer A. Nucleic Acids Res. 2021 Apr 6;49(6):3507-3523. doi: 10.1093/nar/gkab116. PMID: 33660773
Single-cell analysis of erythropoiesis in Rpl11 haploinsufficient mice reveals insight into the pathogenesis of Diamond-Blackfan anemia. Doty RT, Yan X, Meng C, Lausted C, Tian Q, Abkowitz JL.Exp Hematol. 2021 May;97:66-78.e6.doi:10.1016/j.exphem.2021.02.010. Epub 2021 Feb 22. PMID: 33631277
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19. Takafuji S, Mori T, Nishimura N, Yamamoto N, Uemura S, Nozu K, Terui K, Toki T, Ito E, Muramatsu H, Takahashi Y, Matsuo M, Yamamura T, Iijima K. Pediatr Hematol Oncol. 2021 Feb 24:1-16. doi: 10.1080/08880018.2021.1887984. Online ahead of print. PMID: 33622161
A useful method to diagnose Pearson syndrome mimicking Diamond–Blackfan anemia. Nishimura T, Yamada A, Utoyama M, Saito Y, Moritake H. Pediatr Int. 2021 Feb;63(2):223-225. doi: 10.1111/ped.14385. Epub 2021 Feb 15. PMID: 33586850 No abstract available.
Successful gene therapy of Diamond-Blackfan anemia in a mouse model and human CD34+ cord blood hematopoietic stem cells using a clinically applicable lentiviral vector. Liu Y, Dahl M, Debnath S, Rothe M, Smith EM, Grahn THM, Warsi S, Chen J, Flygare J, Schambach A, Karlsson S. Haematologica. 2021 Jan 14. doi:10.3324/haematol.2020.269142. Online ahead of print. PMID: 33440921
Horner Syndrome: An Unknown Entity After Tunneled Central Venous Catheter Insertion. Chakraborty S, Dua V, Sachdev M, Bansal M, Sinha A. J Pediatr Hematol Oncol. 2021 Jan;43(1):37-38. doi: 10.1097/MPH.0000000000001947. PMID: 32925404 No abstract available.
Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia. Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M. Int J Mol Sci. 2020 Dec 17;21(24):9652. doi: 10.3390/ijms21249652. PMID: 33348919
Special pre- and posttransplant considerations in inherited bone marrow failure and hematopoietic malignancy predisposition syndromes. Bonfim C. Hematology Am Soc Hematol Educ Program. 2020 Dec 4;2020(1):107-114. doi: 10.1182/hematology. 2020000095. PMID: 33275667
Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data. Chhabra P, Bhatia P, Singh M, Bansal D, Jain R, Varma N, Trehan A. Blood Cells Mol Dis. 2021 Mar;87:102510. doi: 10.1016/j.bcmd.2020.102510. Epub 2020 Nov 5. PMID: 33197791
The Use of B-Cell Polysome Profiling to Validate Novel RPL5 (uL18) and RPL26 (uL24) Variants in Diamond-Blackfan Anemia. Ludlow A, George N, Glassford M, Udenberg K, Hannibal MC, Schwalm C, Scott K, Rothstein TL, Singh SA. J Pediatr Hematol Oncol. 2021 Apr 1;43(3):e336-e340. doi: 10.1097/MPH.0000000000001980. PMID: 33122585
Allogeneic Hematopoietic Stem Cell Transplant Offer Good Outcomes in Pediatric Aplastic Anemia: Experience From Developing World. Sachdev M, Bansal M, Chakraborty S, Jain S, Bhargava R, Dua V. J Pediatr Hematol Oncol. 2020 Oct 28. doi: 10.1097/MPH.0000000000001981. Online ahead of print. PMID: 33122581
Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia. Taylor AM, Macari ER, Chan IT, Blair MC, Doulatov S, Vo LT, Raiser DM, Siva K, Basak A, Pirouz M, Shah AN, McGrath K, Humphries JM, Stillman E, Alter BP, Calo E, Gregory RI, Sankaran VG, Flygare J, Ebert BL, Zhou Y, Daley GQ, Zon LI. Sci Transl Med. 2020 Oct 21;12(566):eabb5831. doi: 10.1126/scitranslmed.abb5831.PMID: 33087503
How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies. Venturi G, Montanaro L. Cells. 2020 Oct 15;9(10):2300. doi: 10.3390/cells9102300. PMID: 33076379 Free PMC article. Review.
Massive iron overload and acute-on-chronic liver failure in a patient with Diamond-Blackfan anaemia: a case report. Assis-Mendonça GR, Cunha-Silva M, Fernandes MF, Torres LD, de Almeida Verissimo MP, Okano MTN, Mazo DF, Lalli CA, Sevá-Pereira T, Stelini RF, da Costa LBE. BMC Gastroenterol. 2020 Oct 12;20(1):332. doi: 10.1186/s12876-020-01468-9. PMID: 33045993 Free PMC article.
L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry. Vlachos A, Atsidaftos E, Lababidi ML, Muir E, Rogers ZR, Alhushki W, Bernstein J, Glader B, Gruner B, Hartung H, Knoll C, Loew T, Nalepa G, Narla A, Panigrahi AR, Sieff CA, Walkovich K, Farrar JE, Lipton JM. Pediatr Blood Cancer. 2020 Dec;67(12):e28748. doi: 10.1002/pbc.28748. Epub 2020 Oct 6. PMID: 33025707 Clinical Trial.
The Role of α1-Microglobulin (A1M) in Erythropoiesis and Erythrocyte Homeostasis-Therapeutic Opportunities in Hemolytic Conditions. Kristiansson A, Gram M, Flygare J, Hansson SR, Åkerström B, Storry JR. Int J Mol Sci. 2020 Sep 30;21(19):7234. doi: 10.3390/ijms21197234. PMID: 33008134 Free PMC article. Review.
Real-World Experience Measurement of Liver Iron Concentration by R2 vs. R2 Star MRI in Hemoglobinopathies. Abou Zahr R, Burkhardt BEU, Ehsan L, Potersnak A, Greil G, Dillenbeck J, Rogers Z, Hussain T. Diagnostics (Basel). 2020 Sep 29;10(10):768. doi: 10.3390/diagnostics10100768. PMID: 33003498 Free PMC article.
A Review of Diamond-Blackfan Anemia: Current Evidence on Involved Genes and Treatment Modalities. Tyagi A, Gupta A, Dutta A, Potluri P, Batti B. Cureus. 2020 Aug 25;12(8):e10019. doi: 10.7759/cureus.10019. PMID: 32983714 Free PMC article. Review.
Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia. Koyamaishi S, Kamio T, Kobayashi A, Sato T, Kudo K, Sasaki S, Kanezaki R, Hasegawa D, Muramatsu H, Takahashi Y, Sasahara Y, Hiramatsu H, Kakuda H, Tanaka M, Ishimura M, Nishi M, Ishiguro A, Yabe H, Sarashina T, Yamamoto M, Yuza Y, Hyakuna N, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Miyano S, Ogawa S, Toki T, Terui K, Ito E. Bone Marrow Transplant. 2021 May;56(5):1013-1020. doi: 10.1038/s41409-020-01056-1. Epub 2020 Sep 18. PMID: 32948829
Ribosomopathies: New Therapeutic Perspectives. Orgebin E, Lamoureux F, Isidor B, Charrier C, Ory B, Lézot F, Baud’huin M. Cells. 2020 Sep 11;9(9):2080. doi: 10.3390/cells9092080. PMID: 32932838 Free PMC article. Review.
Dental considerations in a paediatric patient with Diamond-Blackfan anaemia. Azam I, Rahul M, Tewari N, Bansal K. BMJ Case Rep. 2020 Sep 14;13(9):e237992. doi: 10.1136/bcr-2020-237992. PMID: 32928813
Metformin-induced suppression of Nemo-like kinase improves erythropoiesis in preclinical models of Diamond-Blackfan anemia through induction of miR-26a. Wilkes MC, Siva K, Varetti G, Mercado J, Wentworth EP, Perez CA, Saxena M, Kam S, Kapur S, Chen J, Narla A, Glader B, Lin S, Serrano M, Flygare J, Sakamoto KM. Exp Hematol. 2020 Nov;91:65-77. doi: 10.1016/j.exphem.2020.09.187. Epub 2020 Sep 12. PMID: 32926965
Outcomes in pediatrics patients diagnosed with bone marrow failure disorders treated in a tertiary care center. Medina Valencia D, Estacio M, Clarete A, Timarán S, Manzi E, Beltrán-Gómez E, Franco AA. Rev Chil Pediatr. 2020 Aug;91(4):545-552. doi: 10.32641/rchped.vi91i4.1579. Epub 2020 Sep 11. PMID: 33399731 English, Spanish.
Recommendations for Pregnancy in Rare Inherited Anemias. Taher AT, Iolascon A, Matar CF, Bou-Fakhredin R, de Franceschi L, Cappellini MD, Barcellini W, Russo R, Andolfo I, Tyan P, Gulbis B, Aydinok Y, Anagnou NP, Bencaiova GA, Tamary H, Martinez PA, Forni G, Vindigni R. Hemasphere. 2020 Aug 12;4(4):e446. doi: 10.1097/ HS9.0000000000000446. eCollection 2020 Aug. PMID: 32885142
p53 activation during ribosome biogenesis regulates normal erythroid differentiation. Le Goff S, Boussaid I, Floquet C, Raimbault A, Hatin I, Andrieu-Soler C, Salma M, Leduc M, Gautier EF, Guyot B, d’Allard D, Montel-Lehry N, Ducamp S, Houvert A, Guillonneau F, Giraudier S, Cramer-Bordé E, Morlé F, Diaz JJ, Hermine O, Taylor N, Kinet S, Verdier F, Padua RA, Mohandas N, Gleizes PE, Soler E, Mayeux P, Fontenay M. Blood. 2021 Jan 7;137(1):89-102. doi: 10.1182/blood.2019003439. PMID: 32818241
Over 60 Years of Experimental Hematology (without a License). Lodish HF. Exp Hematol. 2020 Sep;89:1-12. doi: 10.1016/j.exphem.2020.08.005. Epub 2020 Aug 13. PMID: 32798645
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bertuch AA. Hum Mutat. 2020 Nov;41(11):1918-1930. doi: 10.1002/humu.24092. Epub 2020 Aug 30. PMID: 32790018
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele. Akram T, Fatima A, Klar J, Hoeber J, Zakaria M, Tariq M, Baig SM, Schuster J, Dahl N. Int J Hematol. 2020 Dec;112(6):894-899. doi: 10.1007/s12185-020-02950-6. Epub 2020 Aug 9. PMID: 32772263
Molecular Biology of Osteosarcoma. Czarnecka AM, Synoradzki K, Firlej W, Bartnik E, Sobczuk P, Fiedorowicz M, Grieb P, Rutkowski P. Cancers (Basel). 2020 Jul 31;12(8):2130. doi: 10.3390/cancers12082130. PMID: 32751922 Free PMC article. Review.
Diamond-Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature. Jahan D, Al Hasan MM, Haque M. J Pharm Bioallied Sci. 2020 Apr-Jun;12(2):163-170. doi: 10.4103/jpbs.JPBS_234_19. Epub 2020 Apr 10. PMID: 32742115
Clonal hematopoiesis in the inherited bone marrow failure syndromes. Tsai FD, Lindsley RC. Blood. 2020 Oct 1;136(14):1615-1622. doi: 10.1182/blood.2019000990. PMID: 32736377
Diamond–Blackfan anemia. Da Costa L, Leblanc T, Mohandas N. Blood. 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755 Review.
Introduction to a review series on inherited anemias. Cazzola M. Blood. 2020 Sep 10;136(11):1215-1216. doi: 10.1182/blood.2019004083. PMID: 32702753 No abstract available.
Bone Marrow Failure. Moore CA, Krishnan K. 2020 Jul 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–. PMID: 29083589
Outcome of colorectal cancer in Diamond-Blackfan syndrome with a ribosomal protein S19 mutation. Kimura K, Shimazu K, Toki T, Misawa M, Fukuda K, Yoshida T, Taguchi D, Fukuda S, Iijima K, Takahashi N, Ito E, Nanjyo H, Shibata H. Clin J Gastroenterol. 2020 Dec;13(6):1173-1177. doi: 10.1007/s12328-020-01176-7. Epub 2020 Jul 8. PMID: 32643123
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. Schnappauf O, Zhou Q, Moura NS, Ombrello AK, Michael DG, Deuitch N, Barron K, Stone DL, Hoffmann P, Hershfield M, Applegate C, Bjornsson HT, Beck DB, Witmer PD, Sobreira N, Wohler E, Chiorini JA, Center TAG, Dalgard CL, Center NIS, Kastner DL, Aksentijevich I. J Clin Immunol. 2020 Aug;40(6):917-926. doi: 10.1007/s10875-020-00817-3. Epub 2020 Jul 8. PMID: 32638197
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes. Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M. Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672. PMID: 32630050
Moxibustion with deferasirox results in safe, accelerated, and sustained cardiac iron chelation for a young Diamond Blackfan Anemia patient: An integrative case report. Marie EF. Explore (NY). 2021 May-Jun;17(3):239-246. doi:10.1016/ j.explore.2020.05.011. Epub 2020 May 23. PMID: 32622815
Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase. Wilkes MC, Siva K, Chen J, Varetti G, Youn MY, Chae H, Ek F, Olsson R, Lundbäck T, Dever DP, Nishimura T, Narla A, Glader B, Nakauchi H, Porteus MH, Repellin CE, Gazda HT, Lin S, Serrano M, Flygare J, Sakamoto KM. Nat Commun. 2020 Jul 3;11(1):3344. doi: 10.1038/s41467-020-17100-z. PMID: 32620751
Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers. Mangaonkar AA, Patnaik MM. Mayo Clin Proc. 2020 Jul;95(7):1482-1498. doi: 10.1016/j.mayocp.2019.12.013. Epub 2020 Jun 19. PMID: 32571604
Hematopoietic cell transplantation for Diamond Blackfan anemia: A report from the Pediatric Group of the Brazilian Bone Marrow Transplantation Society. Darrigo LG Junior, Loth G, Kuwahara C, Vieira A, Colturato V, Rodrigues AL, Arcuri L, Fernandes J, Macedo A, Tavares R, Gomes A, Ribeiro L, Seber A, Zecchin V, de Souza M, Calixto R, Pasquini R, Flowers M, Rocha V, Bonfim C. Eur J Haematol. 2020 Oct;105(4):426-433. doi: 10.1111/ejh.13463. Epub 2020 Jul 2. PMID: 32525237
Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia. Strahm B, Loewecke F, Niemeyer CM, Albert M, Ansari M, Bader P, Bertrand Y, Burkhardt B, Da Costa LM, Ferster A, Fischer A, Güngör T, Gruhn B, Hainmann I, Kapp F, Lang P, Müller I, Schulz A, Szvetnik A, Wlodarski M, Noellke P, Leblanc T, Dalle JH. Blood Adv. 2020 Apr 28;4(8):1760-1769. doi: 10.1182/bloodadvances.2019001210. PMID: 32343795
Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID-19 pandemic. Roy NBA, Telfer P, Eleftheriou P, de la Fuente J, Drasar E, Shah F, Roberts D, Atoyebi W, Trompeter S, Layton DM, Lugthart S, Stuart-Smith S, Chakravorty S, Wright J, Porter J, Inusa B, Howard J; National Haemoglobinopathy Panel. Br J Haematol. 2020 May;189(4):635-639. doi: 10.1111/bjh.16687. Epub 2020 May 10. PMID: 32330288
Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias. Fan X, Desmond R, Winkler T, Young DJ, Dumitriu B, Townsley DM, Gutierrez-Rodrigues F, Lotter J, Valdez J, Sellers SE, Barranta ME, Shalhoub RN, Wu CO, Albitar M, Calvo KR, Young NS, Dunbar CE. Blood Adv. 2020 Apr 28;4(8):1700-1710. doi: 10.1182/bloodadvances.2020001657. PMID: 32330244
Integrated analyses of translatome and proteome identify the rules of translation selectivity in RPS14-deficient cells. Boussaid I, Le Goff S, Floquet C, Gautier EF, Raimbault A, Viailly PJ, Al Dulaimi D, Burroni B, Dusanter-Fourt I, Hatin I, Mayeux P, Cosson B, Fontenay M. Haematologica. 2021 Mar 1;106(3):746-758. doi: 10.3324/haematol.2019.239970. PMID: 32327500
Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia. Kazerounian S, Yuan D, Alexander MS, Beggs AH, Gazda HT. Discoveries (Craiova). 2019 Sep 30;7(3):e96. doi: 10.15190/d.2019.9. PMID: 32309614
Diamond-Blackfan anaemia: understanding an old disease. Kattamis A. Br J Haematol. 2020 Jul;190(1):14-15. doi: 10.1111/bjh.16546. Epub 2020 Mar 2. PMID: 32118286 No abstract available.
Nucleolar Organization and Functions in Health and Disease. Stochaj U, Weber SC. Cells. 2020 Feb 25;9(3):526. doi: 10.3390/cells9030526. PMID: 32106410
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? Quarello P, Garelli E, Carando A, Cillario R, Brusco A, Giorgio E, Ferrante D, Corti P, Zecca M, Luciani M, Pierri F, Putti MC, Cantarini ME, Farruggia P, Barone A, Cesaro S, Russo G, Fagioli F, Dianzani I, Ramenghi U; AIEOP working group on Diamond Blackfan Anaemia. Br J Haematol. 2020 Jul;190(1):93-104. doi: 10.1111/bjh.16508. Epub 2020 Feb 21. PMID: 32080838
The nuclear gene rpl18 regulates erythroid maturation via JAK2-STAT3 signaling in zebrafish model of Diamond-Blackfan anemia. Chen C, Lu M, Lin S, Qin W. Cell Death Dis. 2020 Feb 19;11(2):135. doi: 10.1038/s41419-020-2331-5. PMID: 32075953
Improvement of native pulmonary alveolar proteinosis after contralateral single living-donor lobar lung transplantation: A case report. Kobayashi K, Ohkouchi S, Sasahara Y, Ebina M, Nakata K, Saito R, Akiba M, Sado T, Oishi H, Watanabe T, Kurosawa H, Okada Y. Pediatr Transplant. 2020 Mar;24(2):e13659. doi: 10.1111/petr.13659. Epub 2020 Jan 27. PMID: 31985141
Steroid resistance in Diamond Blackfan anemia associates with p57Kip2 dysregulation in erythroid progenitors. Ashley RJ, Yan H, Wang N, Hale J, Dulmovits BM, Papoin J, Olive ME, Udeshi ND, Carr SA, Vlachos A, Lipton JM, Da Costa L, Hillyer C, Kinet S, Taylor N, Mohandas N, Narla A, Blanc L. J Clin Invest. 2020 Apr 1;130(4):2097-2110. doi: 10.1172/JCI132284. PMID: 31961825
Hypoxia influences polysome distribution of human ribosomal protein S12 and alternative splicing of ribosomal protein mRNAs. Brumwell A, Fell L, Obress L, Uniacke J. RNA. 2020 Mar;26(3):361-371. doi: 10.1261/rna.070318.119. Epub 2020 Jan 7. PMID: 31911497
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism. Lezzerini M, Penzo M, O’Donohue MF, Marques Dos Santos Vieira C, Saby M, Elfrink HL, Diets IJ, Hesse AM, Couté Y, Gastou M, Nin-Velez A, Nikkels PGJ, Olson AN, Zonneveld-Huijssoon E, Jongmans MCJ, Zhang G, van Weeghel M, Houtkooper RH, Wlodarski MW, Kuiper RP, Bierings MB, van der Werff Ten Bosch J, Leblanc T, Montanaro L, Dinman JD, Da Costa L, Gleizes PE, MacInnes AW. Nucleic Acids Res. 2020 Jan 24;48(2):770-787. doi: 10.1093/nar/gkz1042. PMID: 31799629
Gene disruption of ribosomal protein L5 (RPL5) decreased the sensitivity of CHO-K1 cells to uncoupler carbonylcyanide-3-chlorophenylhydrazone. Araki M, Ishibashi T, Munesue M, Ohashi K, Nobukuni Y, Maeda M. Drug Discov Ther. 2019;13(6):306-313. doi: 10.5582/ddt.2019.01080. PMID: 31956228
A Drug Repurposing and Protein-Protein Interaction Network Study of Ribosomopathies Using Yeast as a Model System. Ertekin E, Gencturk E, Kasim M, Ulgen KO. OMICS. 2020 Feb;24(2):96-109. doi: 10.1089/omi.2019.0096. Epub 2019 Dec 31. PMID: 31895625
The outcome of allogeneic Hematopoietic Stem Cell Transplantation on Diamond-Blackfan anemia using busulfan-based myeloablative regimen. Behfar M, Koochakzadeh L, Yazdanian N, Salajegheh P, Rostami T, Khodayari-Namini N, Ghavamzadeh A, Hamidieh AA. Turk J Pediatr. 2019;61(3):407-412. doi: 10.24953/turkjped.2019.03.013.PMID: 31916719
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. Lauhasurayotin S, Cuvelier GD, Klaassen RJ, Fernandez CV, Pastore YD, Abish S, Rayar M, Steele M, Jardine L, Breakey VR, Brossard J, Sinha R, Silva M, Goodyear L, Lipton JH, Michon B, Corriveau-Bourque C, Sung L, Shabanova I, Li H, Zlateska B, Dhanraj S, Cada M, Scherer SW, Dror Y. NPJ Genom Med. 2019 Dec 9;4:30. doi: 10.1038/s41525-019-0104-9. eCollection 2019. PMID: 31839986
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions. Volejnikova J, Vojta P, Urbankova H, Mojzíkova R, Horvathova M, Hochova I, Cermak J, Blatny J, Sukova M, Bubanska E, Feketeova J, Prochazkova D, Horakova J, Hajduch M, Pospisilova D. Blood Cells Mol Dis. 2020 Mar;81:102380. doi: 10.1016/j.bcmd.2019.102380. Epub 2019 Nov 11. PMID: 31855845
Regulation of GATA1 levels in erythropoiesis. Gutiérrez L, Caballero N, Fernández-Calleja L, Karkoulia E, Strouboulis J. IUBMB Life. 2020 Jan;72(1):89-105. doi: 10.1002/iub.2192. Epub 2019 Nov 25. PMID: 31769197 Review.
GATA1 mutations in red cell disorders. Ling T, Crispino JD. IUBMB Life. 2019 Oct 25. doi: 10.1002/iub.2177. [Epub ahead of print] PMID: 31652397
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5. Tominaga M, Hamanoue S, Goto H, Saito T, Nagai JI, Masuno M, Umeda Y, Kurosawa K. Hum Genome Var. 2019 Aug 8;6:36. doi: 10.1038/s41439-019-0067-5. eCollection 2019. PMID: 31645974
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. Le Caignec C, Ory B, Lamoureux F, O’Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud’huin M, Isidor B. Am J Hum Genet. 2019 Oct 14. pii: S0002-9297(19)30364-7. doi: 10.1016/j.ajhg.2019.09.024. [Epub ahead of print] PMID: 31630789
Loss of rps9 in Zebrafish Leads to p53-Dependent Anemia. Chen C, Huang H, Yan R, Lin S, Qin W. G3 (Bethesda). 2019 Oct 16. pii: g3.400585.2019. doi: 10.1534/g3.119.400585. [Epub ahead of print] PMID: 31619461
Zebrafish Models of Diamond-Blackfan Anemia: A Tool for Understanding the Disease Pathogenesis and Drug Discovery. Uechi T, Kenmochi N. Pharmaceuticals (Basel). 2019 Oct 9;12(4). pii: E151. doi: 10.3390/ph12040151. Review. PMID: 31600948
A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2. Sahin S, Adrovic A, Kasapcopur O. Curr Opin Rheumatol. 2019 Oct 9. doi: 10.1097/BOR.0000000000000669. [Epub ahead of print] PMID: 31599797
Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report. Yoo YS, Lee NH, Choi YB. Medicine (Baltimore). 2019 Sep;98(39):e17337. doi: 10.1097/MD.0000000000017337. PMID: 31574871
Managing the Unusual Causes of Fetal Anemia. Maisonneuve E, Ben M’Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N’Dour C, Mailloux A, Cortey A, Jouannic JM. Fetal Diagn Ther. 2019 Sep 10:1-9. doi: 10.1159/000501554. [Epub ahead of print] PMID: 31505487
Diamond Blackfan Anemia. Gadhiya K, Budh DP. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan-. 2019 Jul 23. PMID: 31424886
Chromatin occupancy and epigenetic analysis reveal new insights into the function of the GATA1 N terminus in erythropoiesis. Ling T, Birger Y, Stankiewicz MJ, Ben-Haim N, Kalisky T, Rein A, Kugler E, Chen W, Fu C, Zhang K, Patel H, Sikora JW, Goo YA, Kelleher N, Zou L, Izraeli S, Crispino JD. Blood. 2019 Nov 7;134(19):1619-1631. doi: 10.1182/blood.2019001234. PMID: 31409672
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach. Kedar PS, Harigae H, Ito E, Muramatsu H, Kojima S, Okuno Y, Fujiwara T, Dongerdiye R, Warang PP, Madkaikar MR. Int J Hematol. 2019 Nov;110(5):618-626. doi: 10.1007/s12185-019-02716-9. Epub 2019 Aug 10. PMID: 31401766
Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia. Chai KY, Quijano CJ, Chiruka S. Case Rep Hematol. 2019 Jul 1;2019:4684156. doi: 10.1155/2019/4684156. eCollection 2019. PMID: 31355022
Effect of L-Leucine Therapy on Hematopoietic Function in Elderly Myelodysplastic Syndrome Patients. Ito K, Hayashi T, Inaguma Y, Terazawa T, Ando M, Ando Y, Tsuge M, Kato A, Shimato A, Suzuki S, Kato S, Tomita A, Yamada S, Emi N. Biol Pharm Bull. 2019 Oct 1;42(10):1651-1657. doi: 10.1248/bpb.b19-00184. Epub 2019 Jul 25. PMID: 31341143
The genetics of human hematopoiesis and its disruption in disease. Bao EL, Cheng AN, Sankaran VG. EMBO Mol Med. 2019 Aug;11(8):e10316. doi: 10.15252/emmm.201910316. Epub 2019 Jul 17. Review. PMID: 31313878
Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient. Shi X, Huang X, Zhang Y, Cui X. BMC Med Genet. 2019 Jul 5;20(1):120. doi: 10.1186/s12881-019-0848-1. PMID: 31277601
Diamond-Blackfan anemia RPL35A: a case report. Noel CB. J Med Case Rep. 2019 Jun 18;13(1):185. doi: 10.1186/s13256-019-2127-3. PMID: 31208452
Hereditary myeloid malignancies. Rafei H, DiNardo CD. Best Pract Res Clin Haematol. 2019 Jun;32(2):163-176. doi: 10.1016/j.beha.2019.05.001. Epub 2019 May 3. Review. PMID:31203998
Translation of upstream open reading frames in a model of neuronal differentiation. Rodriguez CM, Chun SY, Mills RE, Todd PK. BMC Genomics. 2019 May 20;20(1):391. doi: 10.1186/s12864-019-5775-1. PMID: 31109297
Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes. Neishabury M, Mehri M, Fattahi Z, Najmabadi H, Azarkeivan A. Haematologica. 2019 May 16. pii: haematol.2019.216069. doi: 10.3324/haematol.2019.216069. [Epub ahead of print] PMID: 31097629
A monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2 Subtitle: Deficiency of adenosine deaminase 2. Ozen S, Bilginer Y, Batu ED, Taşkıran E, Özkara HA, Ünal Ş, Güleray N, Erden A, Karadağ Ö, Gümrük F, Çetin M, Sönmez HE, Ayvaz DÇ, Tezcan I. J Rheumatol. 2019 May 1. pii: jrheum.181384. doi: 10.3899/jrheum.181384. [Epub ahead of print] PMID: 31043544
Impaired cellular and humoral immunity is a feature of Diamond-Blackfan anaemia; experience of 107 unselected cases in the United Kingdom. Iskander D, Roberts I, Rees C, Szydlo R, Alikian M, Neale M, Harrington Y, Kelleher P, Karadimitris A, de la Fuente J. Br J Haematol. 2019 Apr 13. doi: 10.1111/bjh.15915. [Epub ahead of print] PMID: 30980390
A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan AnemiaUnresponsive to Steroid Treatment. Farah RA, Kamel L, Roy N, Proven M, Wray K, Roberts I, Wlodarski MW. J Pediatr Hematol Oncol. 2019 Mar 29. doi: 10.1097/MPH.0000000000001435. [Epub ahead of print] PMID: 30933022
Aplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2018. Becktell K, Berlyne D, Pagliuca S, Pommert L, Prata PH, Margolis D, de Latour RP, Dufour C, Pierri F. Leuk Res. 2019 May;80:19-25. doi: 10.1016/j.leukres.2019.03.003. Epub 2019 Mar 20.PMID: 30908982
Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment. Engidaye G, Melku M, Enawgaw B. EJIFCC. 2019 Mar 1;30(1):67-81. eCollection 2019 Mar. PMID: 30881276
Diamond-Blackfan Anemia. Clinton C, Gazda HT. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2009 Jun 25 [updated 2019 Mar 7]. PMID: 20301769
A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia. Siva K, Ek F, Chen J, Ghani Alattar A, Sigmundsson K, Olsson R, Wlodarski M, Lundbäck T, Flygare J. SLAS Discov. 2019 Mar;24(3):304-313. doi: 10.1177/2472555218823531. PMID: 30784369
The Genetic Landscape of Diamond-Blackfan Anemia. Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O’Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O’Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. No abstract available. PMID: 30735661
Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit. Sfougataki I, Grafakos I, Varela I, Mitrakos A, Karagiannidou A, Tzannoudaki M, Poulou M, Mertzanian A, Roubelakis G M, Stefanaki K, Traeger-Synodinos J, Kanavakis E, Kitra V, Tzetis M, Goussetis E. Blood Cells Mol Dis. 2019 May;76:32-39. doi: 10.1016/j.bcmd.2019.01.003. Epub 2019 Jan 24. PMID: 30709626
Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1. Rio S, Gastou M, Karboul N, Derman R, Suriyun T, Manceau H, Leblanc T, El Benna J, Schmitt C, Azouzi S, Larghéro J, Karim Z, Macias-Garcia A, Chen JJ, Hermine O, Courtois G, Puy H, Gouya L, Mohandas N, Da Costa L. Blood. 2019 Mar 21;133(12):1358-1370. doi: 10.1182/blood-2018-09-875674. Epub 2019 Jan 30. PMID: 30700418
Peering through zebrafish to understand inherited bone marrow failure syndromes. Oyarbide U, Topczewski J, Corey SJ. Haematologica. 2019 Jan;104(1):13-24. doi: 10.3324/haematol.2018.196105. Epub 2018 Dec 20. Review. PMID: 30573510
Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications. Kallen ME, Dulau-Florea A, Wang W, Calvo KR. Semin Hematol. 2019 Jan;56(1):69-82. doi: 10.1053/j.seminhematol.2018.05.016. Epub 2018 Jun 23. Review. PMID: 30573048
Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia. Claassen D, Boals M, Bowling KM, Cooper GM, Cox J, Hershfield M, Lewis S, Wlodarski M, Weiss MJ, Estepp JH. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). pii: a003384. doi: 10.1101/mcs.a003384. Print 2018 Dec. PMID: 30559313
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity. Roberti D, Conforti R, Giugliano T, Brogna B, Tartaglione I, Casale M, Piluso G, Perrotta S. Front Genet. 2018 Nov 19;9:549. doi: 10.3389/fgene.2018.00549. eCollection 2018. PMID: 30524470
Single-cell analyses demonstrate that a heme-GATA1 feedback loop regulates red cell differentiation. Doty RT, Yan X, Lausted C, Munday AD, Yang Z, Yi D, Jabbari N, Liu L, Keel SB, Tian Q, Abkowitz JL. Blood. 2019 Jan 31;133(5):457-469. doi: 10.1182/blood-2018-05-850412. Epub 2018 Dec 10. PMID: 30530752
The Genetic Landscape of Diamond-Blackfan Anemia. Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O’Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O’Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):356. PMID: 30503522
How I manage children with Diamond-Blackfan anaemia. Bartels M, Bierings M. Br J Haematol. 2019 Jan;184(2):123-133. doi: 10.1111/bjh.15701. Epub 2018 Dec 4. Review. PMID: 30515771
A potential link between p53, cell competition and ribosomopathy in mammals and in Drosophila. Baker NE, Kiparaki M, Khan C. Dev Biol. 2019 Feb 1;446(1):17-19. doi: 10.1016/j.ydbio.2018.11.018. Epub 2018 Dec 2. PMID: 30513308
LHX3 deficiency presenting in the United States with severe developmental delay in a child of Syrian refugee parents. Ahern S, Daniels M, Bhangoo A. Endocrinol Diabetes Metab Case Rep. 2018;2018. pii: EDM180079. doi: 10.1530/EDM-18-0079. Epub 2018 Nov 22. PMID: 30481152
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation. Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A. Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20. No abstract available. PMID: 30460677
Author Correction: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. Aspesi A, Monteleone V, Betti M, Actis C, Morleo G, Sculco M, Guarrera S, Wlodarski MW, Ramenghi U, Santoro C, Ellis SR, Loreni F, Follenzi A, Dianzani I. Sci Rep. 2018 Nov 16;8(1):17227. doi: 10.1038/s41598-018-35522-0. PMID: 30442972
Emerging Therapeutic Approaches for Diamond Blackfan Anemia. Aspesi A, Borsotti C, Follenzi A. Curr Gene Ther. 2018;18(6):327-335. doi: 10.2174/1566523218666181109124538.PMID: 30411682
Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2. Lee PY. Front Pediatr. 2018 Oct 18;6:282. doi: 10.3389/fped.2018.00282. eCollection 2018. Review. PMID: 30406060
Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies. Hetman M, Slomnicki LP. J Neurochem. 2019 Feb;148(3):325-347. doi: 10.1111/jnc.14576. Epub 2018 Nov 12. Review. PMID: 30144322
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases. Aubert M, O’Donohue MF, Lebaron S, Gleizes PE. Biomolecules. 2018 Oct 24;8(4). pii: E123. doi: 10.3390/biom8040123. Review. PMID: 30356013
Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia. Khurana M, Edwards D, Rescorla F, Miller C, He Y, Sierra Potchanant E, Nalepa G. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003152. doi: 10.1101/mcs.a003152. Print 2018 Oct. PMID: 30275003
Increased risk of colon cancer and osteogenic sarcoma in Diamond Blackfan anemia. Vlachos A, Rosenberg PS, Atsidaftos E, Kang J, Onel K, Sharaf RN, Alter BP, Lipton JM.
Blood. 2018 Sep 28. pii: blood-2018-05-848937. doi: 10.1182/blood-2018-05-848937. [Epub ahead of print] No abstract available. PMID: 30266775
An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia. Da Costa L, Narla A, Mohandas N. F1000Res. 2018 Aug 29;7. pii: F1000 Faculty Rev-1350. Doi: 10.12688/f1000research. 15542.1. eCollection 2018. Review. PMID: 30228860
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan Anemia. Jongmans MCJ, Diets IJ, Quarello P, Garelli E, Kuiper RP, Pfundt R. Haematologica. 2018 Sep 13. pii: haematol.2018.200683. doi: 10.3324/haematol.2018.200683. [Epub ahead of print] No abstract available.PMID: 30213830
Molecular basis for disassembly of an importin:ribosomal protein complex by the escortin Tsr2. Schütz S, Michel E, Damberger FF, Oplová M, Peña C, Leitner A, Aebersold R, Allain FH, Panse VG. Nat Commun. 2018 Sep 10;9(1):3669. doi: 10.1038/s41467-018-06160-x. PMID: 30201955
Rare anemias from the group of congenital bone marrow failure syndromes. Pospíšilová D. Vnitr Lek. 2018 Summer;64(5):488-500. PMID: 30193517
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease. Alsultan A, Al-Suliman AM, Aleem A, AlGahtani FH, Alfadhel M. Genet Test Mol Biomarkers. 2018 Sep;22(9):561-567. doi: 10.1089/gtmb.2018.0058. Epub 2018 Sep 5.PMID: 30183354
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome. Toki T, Yoshida K, Wang R, Nakamura S, Maekawa T, Goi K, Katoh MC, Mizuno S, Sugiyama F, Kanezaki R, Uechi T, Nakajima Y, Sato Y, Okuno Y, Sato-Otsubo A, Shiozawa Y, Kataoka K, Shiraishi Y, Sanada M, Chiba K, Tanaka H, Terui K, Sato T, Kamio T, Sakaguchi H, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Kanno H, Miyano S, Kojima S, Ishiguro A, Sugita K, Kenmochi N, Takahashi S, Eto K, Ogawa S, Ito E. Am J Hum Genet. 2018 Sep 6;103(3):440-447. doi: 10.1016/j.ajhg.2018.07.020. Epub 2018 Aug 23. PMID: 30146126
[Diagnostic targets and exosome sequence analysis of Diamond-Blackfan anemia in Japan]. Toki T, Ito E. Rinsho Ketsueki. 2018;59(7):945-952. doi: 10.11406/rinketsu.59.945. Japanese.PMID: 30078807
Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment. Li H, Lodish HF, Sieff CA. Hematol Oncol Clin North Am. 2018 Aug;32(4):701-712. doi: 10.1016/j.hoc.2018.04.005. Epub 2018 Jun 5. Review. PMID: 30047421
The histopathology of bone marrow failure in children. Iwafuchi H. J Clin Exp Hematop. 2018;58(2):68-86. doi: 10.3960/jslrt.18018. Review. PMID: 29998978
[Inherited bone marrow failure syndrome: management and diagnostic advances utilizing next-generation sequencing]. Muramatsu H. Rinsho Ketsueki. 2018;59(6):716-722. doi: 10.11406/rinketsu.59.716. Japanese. PMID: 29973450
Correction to: Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. Sonoda M, Ishimura M, Ichimiya Y, Terashi E, Eguchi K, Sakai Y, Takada H, Hama A, Kanno H, Toki T, Ito E, Ohga S. Int J Hematol. 2018 Aug;108(2):236. doi: 10.1007/s12185-018-2493-4. PMID: 29967977
Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. Gansner JM, Furutani E, Campagna DR, Fleming MD, Shimamura A. Am J Hematol. 2018 Sep;93(9):1194-1195. doi: 10.1002/ajh.25155. Epub 2018 Sep 6. No abstract available. PMID: 29885000
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. Aspesi A, Betti M, Sculco M, Actis C, Olgasi C, Wlodarski MW, Vlachos A, Lipton JM, Ramenghi U, Santoro C, Follenzi A, Ellis SR, Dianzani I. Hum Mutat. 2018 Aug;39(8):1102-1111. doi: 10.1002/humu.23551. Epub 2018 May 28. PMID: 29766597
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan AnemiaSuggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry. Vlachos A, Osorio DS, Atsidaftos E, Kang J, Lababidi ML, Seiden HS, Gruber D, Glader BE, Onel K, Farrar JE, Bodine DM, Aspesi A, Dianzani I, Ramenghi U, Ellis SR, Lipton JM. Circ Genom Precis Med. 2018 May;11(5):e002044. doi: 10.1161/CIRCGENETICS.117.002044. No abstract available. PMID: 29748317
Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network. Khan A, Ali A, Junaid M, Liu C, Kaushik AC, Cho WCS, Wei DQ. BMC Syst Biol. 2018 Apr 24;12(Suppl 4):39. doi: 10.1186/s12918-018-0563-0. PMID: 29745857
Assessment of liver and cardiac iron overload using MRI in patients with chronic anemias in Latin American countries: results from ASIMILA study. Cancado R, Watman NP, Lobo C, Chona Z, Manzur F, Traina F, Park M, Drelichman G, Zarate JP, Marfil L. Hematology. 2018 Oct;23(9):676-682. doi: 10.1080/10245332.2018.1461292. Epub 2018 Apr 17. PMID: 29663858
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. Wlodarski MW, Da Costa L, O’Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW. Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29. PMID: 29599205
Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia. Danilova N, Wilkes M, Bibikova E, Youn MY, Sakamoto KM, Lin S. Sci Rep. 2018 Mar 26;8(1):5165. doi: 10.1038/s41598-018-23561-6. PMID: 29581525
Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis. Khajuria RK, Munschauer M, Ulirsch JC, Fiorini C, Ludwig LS, McFarland SK, Abdulhay NJ, Specht H, Keshishian H, Mani DR, Jovanovic M, Ellis SR, Fulco CP, Engreitz JM, Schütz S, Lian J, Gripp KW, Weinberg OK, Pinkus GS, Gehrke L, Regev A, Lander ES, Gazda HT, Lee WY, Panse VG, Carr SA, Sankaran VG. Cell. 2018 Mar 22;173(1):90-103.e19. doi: 10.1016/j.cell.2018.02.036. Epub 2018 Mar 15. PMID: 29551269
Diagnostic and prognostic implications of ribosomal protein transcript expression patterns in human cancers. Dolezal JM, Dash AP, Prochownik EV. BMC Cancer. 2018 Mar 12;18(1):275. doi: 10.1186/s12885-018-4178-z. PMID: 29530001
Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. Sonoda M, Ishimura M, Ichimiya Y, Terashi E, Eguchi K, Sakai Y, Takada H, Hama A, Kanno H, Toki T, Ito E, Ohga S. Int J Hematol. 2018 Feb 23. doi: 10.1007/s12185-018-2424-4. [Epub ahead of print] PMID: 29476317
Ribosome biogenesis protein Urb2 regulates hematopoietic stem cells development via P53 pathway in zebrafish. Cai P, Mao X, Zhao J, Luo L. Biochem Biophys Res Commun. 2018 Mar 4;497(2):776-782. doi: 10.1016/j.bbrc.2018.02.153. Epub 2018 Feb 19. PMID: 29470984
Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets. Fujii YR. Methods Mol Biol. 2018;1733:145-157. doi: 10.1007/978-1-4939-7601-0_12. PMID: 29435930
Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line. Moore KS, Yagci N, van Alphen F, Paolini NA, Horos R, Held NM, Houtkooper RH, van den Akker E, Meijer AB, ‘t Hoen PAC, von Lindern M. Sci Rep. 2018 Feb 8;8(1):2628. doi: 10.1038/s41598-018-20518-7. PMID: 29422612
Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 mRNA translation. Chennupati V, Veiga DF, Maslowski KM, Andina N, Tardivel A, Yu EC, Stilinovic M, Simillion C, Duchosal MA, Quadroni M, Roberts I, Sankaran VG, MacDonald HR, Fasel N, Angelillo-Scherrer A, Schneider P, Hoang T, Allam R. J Clin Invest. 2018 Feb 6. pii: 94956. doi: 10.1172/JCI94956. [Epub ahead of print] PMID: 29408805
GATA1 insufficiencies in primary myelofibrosis and other hematopoietic disorders: consequences for therapy. Ling T, Crispino JD, Zingariello M, Martelli F, Migliaccio AR. Expert Rev Hematol. 2018 Feb 5. doi: 10.1080/17474086.2018.1436965. [Epub ahead of print] PMID: 29400094
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. Russo R, Andolfo I, Manna F, Gambale A, Marra R, Rosato BE, Caforio P, Pinto V, Pignataro P, Radhakrishnan K, Unal S, Tomaiuolo G, Forni GL, Iolascon A. Am J Hematol. 2018 Feb 3. doi: 10.1002/ajh.25058. [Epub ahead of print] PMID: 29396846
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. Calo E, Gu B, Bowen ME, Aryan F, Zalc A, Liang J, Flynn RA, Swigut T, Chang HY, Attardi LD, Wysocka J. Nature. 2018 Feb 1;554(7690):112-117. doi: 10.1038/nature25449. Epub 2018 Jan 24. PMID: 29364875
Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models. Chakraborty A, Uechi T, Nakajima Y, Gazda HT, O’Donohue MF, Gleizes PE, Kenmochi N. Biochem Biophys Res Commun. 2018 Jan 8;495(2):1839-1845. doi: 10.1016/j.bbrc.2017.12.019. Epub 2017 Dec 7. PMID: 29225165
Acquired ribosomopathies in leukemia and solid tumors. Vlachos A. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):716-719. doi: 10.1182/asheducation-2017.1.716. Review. PMID:29222326
Treatment of inherited bone marrow failure syndromes beyond transplantation. Calado RT, Clé DV. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):96-101. doi: 10.1182/asheducation-2017.1.96. Review. PMID:29222242
Inherited bone marrow failure syndromes: considerations pre- and posttransplant. Alter BP. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):88-95. doi: 10.1182/asheducation-2017.1.88. Review. PMID:29222241
Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. West AH, Churpek JE. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):79-87. doi: 10.1182/asheducation-2017.1.79. Review. PMID:29222240
Sperm RNA elements as markers of health. Burl RB, Clough S, Sendler E, Estill M, Krawetz SA. Syst Biol Reprod Med. 2017 Dec 3:1-14. doi: 10.1080/19396368.2017.1393583. [Epub ahead of print] PMID:29199464
Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome. Sakamoto KM, Narla A. Leukemia. 2017 Sep 8. doi: 10.1038/leu.2017.314. [Epub ahead of print] No abstract available. PMID:29182601
Inherited bone marrow failure syndromes: considerations pre- and posttransplant. Alter BP. Blood. 2017 Nov 23;130(21):2257-2264. doi: 10.1182/blood-2017-05-781799. Review. PMID:29167174
Advanced Cell Culture Models for Diamond Blackfan Anemia and other Erythroid Disorders. Migliaccio AR, Varricchio L. Stem Cells. 2017 Nov 10. doi: 10.1002/stem.2735. [Epub ahead of print] Review. PMID:29124822
Pediatric Diamond-Blackfan anemia in the Netherlands: an overview of clinical characteristics and underlying molecular defects. van Dooijeweert B, van Ommen CH, Smiers FJ, Tamminga RYJ, Te Loo MW, Donker AE, Peters M, Granzen B, Gille JJP, Bierings MB, MacInnes AW, Bartels M. Eur J Haematol. 2017 Nov 7. doi: 10.1111/ejh.12995. [Epub ahead of print] PMID:29114930
Ribosomopathies: There’s strength in numbers. Mills EW, Green R. Science. 2017 Nov 3;358(6363). pii: eaan2755. doi: 10.1126/science.aan2755. Review. PMID:29097519
Bone Marrow Failure. Moore CA, Krishnan K. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2017 Jun-2017 Oct 6. PMID: 29083589
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. Da Costa L, O’Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW. Eur J Med Genet. 2017 Oct 26. pii: S1769-7212(17)30505-0. doi: 10.1016/j.ejmg.2017.10.017. [Epub ahead of print] Review. PMID: 29081386
The severe phenotype of Diamond-Blackfan anemia is modulated byheat shock protein 70. Gastou M, Rio S, Dussiot M, Karboul N, Moniz H, Leblanc T, Sevin M, Gonin P, Larghéro J, Garrido C, Narla A, Mohandas N, Vainchenker W, Hermine O, Solary E, Da Costa L. Blood Adv. 2017 Oct 10;1(22):1959-1976. doi: 10.1182/bloodadvances.2017008078. eCollection 2017 Oct 10. PMID: 29296843
Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after 15 years of follow-up. Alter BP, Giri N, Savage SA, Rosenberg PS. Haematologica. 2017 Oct 19. pii: haematol.2017.178111. doi: 10.3324/haematol.2017.178111. [Epub ahead of print] PMID: 29051281
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia. Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele MG, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y. Clin Genet. 2017 Oct 16. doi: 10.1111/cge.13158. [Epub ahead of print] PMID: 29044489
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient. Venugopal P, Moore S, Lawrence DM, George AJ, Hannan RD, Bray SC, Bik To L, D’Andrea RJ, Feng J, Tirimacco A, Yeoman AL, Young CC, Fine M, Schreiber AW, Hahn CN, Barnett C, Saxon B, Scott HS. Haematologica. 2017 Sep 29. pii: haematol.2017.166678. doi: 10.3324/haematol.2017.166678. [Epub ahead of print] No abstract available. PMID: 28971907
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. Aspesi A, Monteleone V, Betti M, Actis C, Morleo G, Sculco M, Guarrera S, Wlodarski MW, Ramenghi U, Santoro C, Ellis SR, Loreni F, Follenzi A, Dianzani I. Sci Rep. 2017 Sep 20;7(1):12010. doi: 10.1038/s41598-017-12307-5. PMID: 28931864
Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia. Ogasawara T, Kawauchi K, Mori N, Sakura H, Katoh F, Kanno H, Ito E. Rinsho Ketsueki. 2017;58(8):917-921. doi: 10.11406/rinketsu.58.917. Japanese. PMID:28883274
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes. Giri N, Reed HD, Stratton P, Savage SA, Alter BP. Pediatr Blood Cancer. 2017 Aug 12. doi: 10.1002/pbc.26757. [Epub ahead of print] PMID:28801981
Rps26 directs mRNA-specific translation by recognition of Kozak sequence elements. Fer retti MB, Ghalei H, Ward EA, Potts EL, Karbstein K. Nat Struct Mol Biol. 2017 Jul 31. doi: 10.1038/nsmb.3442. [Epub ahead of print] PMID:28759050
Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione. Noguchi J, Kanno H, Chiba Y, Ito E, Ishiguro A. Pediatr Int. 2017 Jul;59(7):838-840. doi: 10.1111/ped.13284. No abstract available. PMID:28745457
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. Carlston CM, Afify ZA, Palumbos JC, Bagley H, Barbagelata C, Wooderchak-Donahue WL, Mao R, Carey JC. Am J Med Genet A. 2017 Jul 25. doi: 10.1002/ajmg.a.38360. [Epub ahead of print] PMID:28742285
Iron overload directly affecting the ovaries in a patient with Diamond-Blackfan anaemia: a case report. Mascarenhas M, Rawnsley V, Balen A. Hum Fertil (Camb). 2017 Jun 23:1-5. doi: 10.1080/14647273.2017.1342875. [Epub ahead of print] PMID:28643569
Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. Savage SA, Dufour C. Semin Hematol. 2017 Apr;54(2):105-114. doi: 10.1053/j.seminhematol.2017.04.004. Epub 2017 Apr 7. Review. PMID:28637614
Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes. Li Q, Luo C, Luo C, Wang J, Li B, Ding L, Chen J. Ann Hematol. 2017 Aug;96(8):1389-1397. doi: 10.1007/s00277-017-3041-7. Epub 2017 Jun 16. PMID:28623394
Confounding in <i>ex vivo</i> models of Diamond-Blackfan anemia.Ulirsch JC, Lareau C, Ludwig LS, Mohandas N, Nathan DG, Sankaran VG. Blood. 2017 Jun 14. pii: blood-2017-05-783191. doi: 10.1182/blood-2017-05-783191. [Epub ahead of print] No abstract available. PMID:28615220
Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders. Burroughs LM, Shimamura A, Talano JA, Domm JA, Baker KK, Delaney C, Frangoul H, Margolis DA, Baker KS, Nemecek ER, Geddis AE, Sandmaier BM, Deeg HJ, Storb R, Woolfrey AE. Biol Blood Marrow Transplant. 2017 Jun 7. pii: S1083-8791(17)30511-6. doi: 10.1016/j.bbmt.2017.06.002. [Epub ahead of print] PMID:28602958
Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition? Fadus MC, Rush ET, Lettieri CK. Clin Case Rep. 2017 Apr 4;5(6):748-752. doi: 10.1002/ccr3.931. eCollection 2017 Jun. PMID:28588803
GATA Transcription Factors: Basic Principles and Related Human Disorders. Fujiwara T. Tohoku J Exp Med. 2017 Jun;242(2):83-91. doi: 10.1620/tjem.242.83.PMID:28566565
Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT. Dietz AC, Savage SA, Vlachos A, Mehta PA, Bresters D, Tolar J, Bonfim C, Dalle JH, de la Fuente J, Skinner R, Boulad F, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP. Biol Blood Marrow Transplant. 2017 May 19. pii: S1083-8791(17)30469-X. doi:10.1016/j.bbmt.2017.05.022. [Epub ahead of print] Review. PMID:28533057
Bone mineral density in patients with inherited bone marrow failure syndromes. Shankar RK, Giri N, Lodish MB, Sinaii N, Reynolds JC, Savage SA, Stratakis CA, Alter BP. Pediatr Res. 2017 May 31. doi: 10.1038/pr.2017.117. [Epub ahead of print] PMID:28486441
Mid-life extra-haematopoetic manifestations of Diamond-Blackfan anaemia. Muir C, Dodds A, Samaras K. Endocrinol Diabetes Metab Case Rep. 2017 Apr 19;2017. pii: 16-0141. doi: 10.1530/EDM-16-0141. eCollection 2017. PMID:28469922
Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia.Debnath S, Jaako P, Siva K, Rothe M, Chen J, Dahl M, Gaspar HB, Flygare J, Schambach A, Karlsson S. Mol Ther. 2017 Aug 2;25(8):1805-1814. doi: 10.1016/j.ymthe.2017.04.002. Epub 2017 Apr 20. PMID:28434866
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.Alkhunaizi E, Schrewe B, Alizadehfar R, Vézina C, Stewart GS, Braverman N. Am J Med Genet A. 2017 Jun;173(6):1514-1520. doi: 10.1002/ajmg.a.38208. Epub 2017 Apr 21. PMID:28432740
Molecular convergence in ex vivo models of Diamond-Blackfan anemia.O’Brien KA, Farrar JE, Vlachos A, Anderson SM, Tsujiura CA, Lichtenberg J, Blanc L, Atsidaftos E, Elkahloun A, An X, Ellis SR, Lipton JM, Bodine DM. Blood. 2017 Jun 8;129(23):3111-3120. doi: 10.1182/blood-2017-01-760462. Epub 2017 Apr 4. PMID:28377399
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations. Errichiello E, Vetro A, Mina T, Wischmeijer A, Berrino E, Carella M, Romagnoli M, Sacchini P, Venesio T, Zecca M, Zuffardi O. Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6. PMID:28376382
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Kim AR, Ulirsch JC, Wilmes S, Unal E, Moraga I, Karakukcu M, Yuan D, Kazerounian S, Abdulhay NJ, King DS, Gupta N, Gabriel SB, Lander ES, Patiroglu T, Ozcan A, Ozdemir MA, Garcia KC, Piehler J, Gazda HT, Klein DE, Sankaran VG. Cell. 2017 Mar 9;168(6):1053-1064.e15. doi: 10.1016/j.cell.2017.02.026. PMID:28283061
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA. J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9. PMID:28280134
The genomics of inherited bone marrow failure: from mechanism to the clinic. Wegman-Ostrosky T, Savage SA. Br J Haematol. 2017 May;177(4):526-542. doi: 10.1111/bjh.14535. Epub 2017 Feb 17. Review. PMID:28211564
[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia]. He X, Xu ZL. Zhongguo Dang Dai Er Ke Za Zhi. 2017 Feb;19(2):171-175. Chinese. PMID:28202115
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, Humphries JM, DeVine A, Narla A, Alter BP, Beggs AH, Agarwal S, Ebert BL, Gazda HT, Lodish HF, Sieff CA, Schlaeger TM, Zon LI, Daley GQ. Sci Transl Med. 2017 Feb 8;9(376). pii: eaah5645. doi: 10.1126/scitranslmed.aah5645.PMID:28179501
GATA factor mutations in hematologic disease. Crispino JD, Horwitz MS. Blood. 2017 Apr 13;129(15):2103-2110. doi: 10.1182/blood-2016-09-687889. Epub 2017 Feb 8. Review.PMID:28179280
Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation. Dietz AC, Mehta PA, Vlachos A, Savage SA, Bresters D, Tolar J, Boulad F, Dalle JH, Bonfim C, de la Fuente J, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP. Biol Blood Marrow Transplant. 2017 May;23(5):726-735. doi: 10.1016/j.bbmt.2017.01.075. Epub 2017 Jan 20. Review. PMID:28115275
Transcriptome Profiling Identifies Ribosome Biogenesis as a Target of Alcohol Teratogenicity and Vulnerability during Early Embryogenesis.Berres ME, Garic A, Flentke GR, Smith SM. PLoS One. 2017 Jan 3;12(1):e0169351. doi: 10.1371/journal.pone.0169351. eCollection 2017. PMID:28046103
[Disorders of Ribosomal Proteins and Related Hematologic Diseases -Review]. Qi YK, Wu LY. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2016 Dec;24(6):1892-1896. doi: 10.7534/j.issn.1009-2137.2016.06.051. Chinese. PMID:28024515
Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia. Crazzolara R, Kropshofer G, Haas OA, Matthes-Martin S, Kager L. Haematologica. 2017 Mar;102(3):e73-e75. doi: 10.3324/haematol.2016.157149. Epub 2016 Dec 7. No abstract available. PMID:27927765
Pure red cell aplasia. Means RT Jr. Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):51-56. Review. PMID:27913462
Exome sequencing identified <i>RPS15A</i> as a novel causative gene for Diamond-Blackfan anemia. Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E. Haematologica. 2017 Mar;102(3):e93-e96. doi: 10.3324/haematol.2016.153932. Epub 2016 Dec 1. No abstract available. PMID:27909223
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. Ichimura T, Yoshida K, Okuno Y, Yujiri T, Nagai K, Nishi M, Shiraishi Y, Ueno H, Toki T, Chiba K, Tanaka H, Muramatsu H, Hara T, Kanno H, Kojima S, Miyano S, Ito E, Ogawa S, Ohga S. Int J Hematol. 2017 Apr;105(4):515-520. doi: 10.1007/s12185-016-2151-7. Epub 2016 Nov 23. PMID: 27882484
Pure red cell aplasia. Means RT Jr. Blood. 2016 Nov 24;128(21):2504-2509. Review. PMID:27881371
Iron Overload and Platelet Function Defects: Possible Correlation. Dahi AA, Hanafy E, Al Pakra M. J Investig Med High Impact Case Rep. 2016 Oct 26;4(4):2324709616675645. eCollection 2016 Oct-Dec. PMID:27826594
Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis. Robson A, Owens ND, Baserga SJ, Khokha MK, Griffin JN. BMC Dev Biol. 2016 Oct 26;16(1):38. PMID:27784267
Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers.Sornjai W, Lithanatudom P, Erales J, Joly P, Francina A, Hacot S, Fucharoen S, Svasti S, Diaz JJ, Mertani HC, Smith DR. Int J Biol Macromol. 2017 Jan;94(Pt A):728-734. doi: 10.1016/j.ijbiomac.2016.10.039. Epub 2016 Oct 17. PMID:27765567
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. Kalejaiye A, Giri N, Brewer CC, Zalewski CK, King KA, Adams CD, Rosenberg PS, Kim HJ, Alter BP. Pediatr Blood Cancer. 2016 Dec;63(12):2139-2145. doi: 10.1002/pbc.26155. PMID: 27428025
Iron Overload and Platelet Function Defects: Possible Correlation. Dahi AA, Hanafy E, Al Pakra M. J Investig Med High Impact Case Rep. 2016 Oct 26;4(4):2324709616675645.PMID: 27826594
Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis. Robson A, Owens ND, Baserga SJ, Khokha MK, Griffin JN. BMC Dev Biol. 2016 Oct 26;16(1):38. PMID: 27784267
Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers.Sornjai W, Lithanatudom P, Erales J, Joly P, Francina A, Hacot S, Fucharoen S, Svasti S, Diaz JJ, Mertani HC, Smith DR. Int J Biol Macromol. 2016 Oct 17. pii: S0141-8130(16)31101-1. doi: 0.1016/j.ijbiomac.2016.10.039. [Epub ahead of print] PMID: 27765567
Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis. Juli G, Gismondi A, Monteleone V, Caldarola S, Iadevaia V, Aspesi A, Dianzani I, Proud CG, Loreni F. Sci Rep. 2016 Oct 13;6:35026. doi: 10.1038/srep35026. PMID: 27734913
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with Diamond Blackfan Anemia as a young adult. Narla A, Yuan D, Kazerounian S, LaVasseur C, Ulirsch JC, Narla J, Glader B, Sankaran VG, Gazda H. Blood Cells Mol Dis. 2016 Oct;61:46-7. doi: 10.1016/j.bcmd.2016.08.001. No abstract available. PMID: 27667165
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. Wan Y, Chen X, An W, Ruan M, Zhang J, Chang L, Zhang R, Zhu S, Zhang Y, Yang W, Guo Y, Yuan W, Zou Y, Chen Y, Zhu X. Int J Hematol. 2016 Oct;104(4):430-9. doi: 10.1007/s12185-016-2044-9. PMID: 27329125
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. J Pediatr Hematol Oncol. 2016 Oct;38(7):e260-2. doi: 10.1097/MPH.0000000000000587. PMID: 27258031
Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. Ozono S, Mitsuo M, Noguchi M, Nakagawa S, Ueda K, Inada H, Ohga S, Ito E. Pediatr Int. 2016 Sep;58(9):930-3. doi: 10.1111/ped.13018. PMID: 27601194
A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. Zhang JY, Jia M, Zhao HZ, Luo ZB, Xu WQ, Shen HP, Tang YM. Blood Cells Mol Dis. 2016 Aug 31;62:1-5. doi: 10.1016/j.bcmd.2016.08.003. [Epub ahead of print] PMID: 27732904
Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia. Kubik-Zahorodna A, Schuster B, Kanchev I, Sedláček R. Folia Biol (Praha). 2016;62(4):139-47. PMID: 27643579
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. Narla A, Davis NL, Lavasseur C, Wong C, Glader B. Am J Hematol. 2016 Aug 24. doi: 10.1002/ajh.24541. [Epub ahead of print] No abstract available. PMID: 27556864
Towards RNA Repair of Diamond-Blackfan Anemia Hematopoietic Stem Cells. D’Allard D, Liu J. Hum Gene Ther. 2016 Aug 22. [Epub ahead of print] PMID: 27550323
A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies. Yuan H, Meng Z, Liu L, Deng X, Hu X, Liang L. Mol Cytogenet. 2016 Aug 2;9:58. doi: 10.1186/s13039-016-0268-2. PMID: 27486481
Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis. Papneja K, Bhatt MD, Kirby-Allen M, Arora S, Wiernikowski JT, Athale UH. Pediatr Blood Cancer. 2016 Aug;63(8):1480-3. doi: 10.1002/pbc.25995. PMID:27082377
Recent advances in inherited bone marrow failure syndrome research.Ito E, Toki T, Terui K. Rinsho Ketsueki. 2016 Jul;57(7):882-90. doi: 10.11406/rinketsu.57.882. PMID: 27498735
The role of ribosomal proteins in the regulation of cell proliferation, tumorigenesis, and genomic integrity. Xu X, Xiong X, Sun Y. Sci China Life Sci. 2016 Jul;59(7):656-72. doi: 10.1007/s11427-016-0018-0. Review. PMID: 27294833
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. Utsugisawa T, Uchiyama T, Toki T, Ogura H, Aoki T, Hamaguchi I, Ishiguro A, Ohara A, Kojima S, Ohga S, Ito E, Kanno H. Blood Cells Mol Dis. 2016 Jul;59:31-6. doi: 10.1016/j.bcmd.2016.03.007. PMID:27282564
A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia. Jiang H, Wu MY, Li DZ. Indian J Hematol Blood Transfus. 2016 Jun;32(Suppl 1):233-4. doi: 10.1007/s12288-015-0524-3. No abstract available. PMID: 27408399
The Stomatological Complications of Diamond-Blackfan Anemia: A Case Report. Gomes RF, Munerato MC. Clin Med Res. 2016 Jun;14(2):97-102. doi: 10.3121/cmr.2015.1305. PMID: 26864506
Diamond-Blackfan Anemia. Clinton C, Gazda HT.In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 2009 Jun 25 [updated 2016 Apr 7]. PMID: 20301769
Hereditary Predispositions to Myelodysplastic Syndrome. Bannon SA, DiNardo CD. Int J Mol Sci. 2016 May 30;17(6). pii: E838. doi: 10.3390/ijms17060838. Review. PMID: 27248996
[Laparoscopic Nephrectomy in Infant with Diamond Blackfan Syndrome]. Matsui H, Suzuki K, Kato K, Hattori R. Hinyokika Kiyo. 2016 Apr;62(4):193-6. Japanese. PMID: 27217013
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. Yang Z, Keel SB, Shimamura A, Liu L, Gerds AT, Li HY, Wood BL, Scott BL, Abkowitz JL. Sci Transl Med. 2016 May 11;8(338):338ra67. doi: 10.1126/scitranslmed.aaf3006. PMID: 27169803
Use of n-of-1 (single patient) trials to assess the effect of age of transfused blood on health-related quality of life in transfusion-dependent patients. Hsia CC, Mahon JL, Seitelbach M, Chia J, Zou G, Chin-Yee IH. Transfusion. 2016 May;56(5):1192-200. doi: 10.1111/trf.13484.PMID: 26840915
Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG. Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4434-9. doi: 10.1073/pnas.1521754113. PMID: 27044088
Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop a Defect in Erythropoiesis.Kamio T, Gu BW, Olson TS, Zhang Y, Mason PJ, Bessler M. PLoS One. 2016 Apr 4;11(4):e0152263. doi: 10.1371/journal.pone.0152263. PMID: 27042854
Role of ribosomal protein mutations in tumor development (Review).Goudarzi KM, Lindström MS. Int J Oncol. 2016 Apr;48(4):1313-24. doi: 10.3892/ijo.2016.3387. PMID: 26892688
Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. Dalle JH, Peffault de Latour R. Int J Hematol. 2016 Apr;103(4):373-9. doi: 10.1007/s12185-016-1951-0. Review. PMID: 26872907
Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia. Wan Y, Zhang Q, Zhang Z, Song B, Wang X, Zhang Y, Jia Q, Cheng T, Zhu X, Leung AY, Yuan W, Jia H, Fang X. BMC Med Genomics. 2016 Mar 9;9:13. doi: 10.1186/s12920-016-0174-9. PMID: 26961822
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia. Quarello P, Garelli E, Carando A, Mancini C, Foglia L, Botto C, Farruggia P, De Keersmaecker K, Aspesi A, Ellis SR, Dianzani I, Ramenghi U. Br J Haematol. 2016 Mar;172(5):782-5. doi: 10.1111/bjh.13880. PMID: 26763766
[Inherited bone marrow failure syndromes]. Okuno Y. Rinsho Ketsueki. 2016 Feb;57(2):98-103. doi: 10.11406/rinketsu.57.98. Review. Japanese. PMID: 26935625
Neonatal manifestations of inherited bone marrow failure syndromes.Khincha PP, Savage SA. Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Review. PMID: 26724991
Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A. Pediatr Blood Cancer. 2016 Feb;63(2):306-12. doi: 10.1002/pbc.25780. PMID: 26496000
Differential expression of ribosomal proteins in myelodysplastic syndromes. Rinker EB, Dueber JC, Qualtieri J, Tedesco J, Erdogan B, Bosompem A, Kim AS. J Clin Pathol. 2016 Feb;69(2):176-80. doi: 10.1136/jclinpath-2015-203093. PMID: 26408650
Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice. Kazerounian S, Ciarlini PD, Yuan D, Ghazvinian R, Alberich-Jorda M, Joshi M, Zhang H, Beggs AH, Gazda HT. J Cancer. 2016 Jan 1;7(1):32-6. doi: 10.7150/jca.13292. PMID: 26722357
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. Ikeda F, Toki T, Kanezaki R, Terui K, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Ogawa S, Ito E. Int J Hematol. 2016 Jan;103(1):112-4. doi: 10.1007/s12185-015-1891-0. No abstract available. PMID: 26608366
[Molecular diagnosis and hematopoietic stem cell transplantation in 17 children with inherited bone marrow failure syndrome]. Li Q, Li B, Luo C, Wang J, Luo C, Ding L, Chen J. Zhonghua Er Ke Za Zhi. 2015 Nov;53(11):817-23. Chinese. PMID: 26758319
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes.Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Tuy FP, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA. PLoS Genet. 2015 Nov 19;11(11):e1005682. doi: 10.1371/journal.pgen.1005682. No abstract available. PMID: 26584186
Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A. Pediatr Blood Cancer. 2015 Oct 23. doi: 10.1002/pbc.25780. [Epub ahead of print] PMID: 26496000
Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis. Morgado-Palacin L, Varetti G, Llanos S, Gómez-López G, Martinez D, Serrano M. Cell Rep. 2015 Oct 27;13(4):712-22. doi: 10.1016/j.celrep.2015.09.038. Epub 2015 Oct 17. PMID: 26489471
Transcriptome analysis of Rpl11-deficient zebrafish model of Diamond-Blackfan Anemia. Zhang Z, Jia H, Zhang Q, Wan Y, Song B, Jia Q, Liu H, Zhu X, Fang X. Genom Data. 2014 Jun 17;2:173-5. doi: 10.1016/j.gdata.2014.06.008. eCollection 2014 Dec. PMID: 26484089
In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature. Pesciotta EN, Lam HS, Kossenkov A, Ge J, Showe LC, Mason PJ, Bessler M, Speicher DW. PLoS One. 2015 Oct 16;10(10):e0140036. doi: 10.1371/journal.pone.0140036. eCollection 2015. PMID: 26474164
[Diagnosis and management of inherited bone marrow failure syndrome]. Yabe M, Yabe H. Rinsho Ketsueki. 2015 Oct;56(10):1914-21. doi: 10.11406/rinketsu.56.1914. Japanese. PMID: 26458429
GATA1 and PU.1 Bind to Ribosomal Protein Genes in Erythroid Cells: Implications for Ribosomopathies. Amanatiadou EP, Papadopoulos GL, Strouboulis J, Vizirianakis IS. PLoS One. 2015 Oct 8;10(10):e0140077. doi: 10.1371/journal.pone.0140077. eCollection 2015. PMID: 26447946
Differential expression of ribosomal proteins in myelodysplastic syndromes. Rinker EB, Dueber JC, Qualtieri J, Tedesco J, Erdogan B, Bosompem A, Kim AS. J Clin Pathol. 2015 Sep 25. pii: jclinpath-2015-203093. doi: 10.1136/jclinpath-2015-203093. [Epub ahead of print] PMID: 26408650
Anemia as the Main Manifestation of Myelodysplastic Syndromes. Santini V. Semin Hematol. 2015 Oct;52(4):348-56. doi: 10.1053/j.seminhematol.2015.06.002. Epub 2015 Jun 30. Review. PMID: 26404446
Ribosomopathies: how a common root can cause a tree of pathologies.Danilova N, Gazda HT. Dis Model Mech. 2015 Sep 1;8(9):1013-26. doi: 10.1242/dmm.020529. Review. PMID: 26398160
Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy. Macrì S, Pavesi E, Crescitelli R, Aspesi A, Vizziello C, Botto C, Corti P, Quarello P, Notari P, Ramenghi U, Ellis SR, Dianzani I. PLoS One. 2015 Sep 22;10(9):e0138200. doi: 10.1371/journal.pone.0138200. eCollection 2015. PMID: 26394034
Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia.Sjögren SE, Siva K, Soneji S, George AJ, Winkler M, Jaako P, Wlodarski M, Karlsson S, Hannan RD, Flygare J. Br J Haematol. 2015 Nov;171(4):517-29. doi: 10.1111/bjh.13632. Epub 2015 Aug 25. PMID: 26305041
Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia. Ge J, Apicella M, Mills JA, Garçon L, French DL, Weiss MJ, Bessler M, Mason PJ. PLoS One. 2015 Aug 10;10(8):e0134878. doi: 10.1371/journal.pone.0134878. eCollection 2015. PMID: 26258650
[Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia]. Toki T, Ito E. Rinsho Ketsueki. 2015 Jul;56(7):867-76. doi: 10.11406/rinketsu.56.867. Japanese. MID:26251151
Diamond-Blackfan Anemia: Death by Heme Toxicity? Elghetany MT. Eur J Haematol. 2015 Aug 1. doi: 10.1111/ejh.12643. [Epub ahead of print] PMID: 26235290
Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report. Matsuda I, Tsuchida YA, Toyoshima F, Tozawa K, Ikehara H, Ohda Y, Hori K, Ohtsuka Y, Watari J, Miwa H, Hirota S. Int J Clin Exp Pathol. 2015 May 1;8(5):5938-43. eCollection 2015. PMID: 26191323
Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare. Flores Ballester E, Gil-Fernández JJ, Vázquez Blanco M, Mesa JM, de Dios García J, Tamayo AT, Burgaleta C. Clin Case Rep. 2015 Jun;3(6):392-5. doi: 10.1002/ccr3.240. Epub 2015 Apr 9. PMID: 26185635
RPS24 knockdown inhibits colorectal cancer cell migration and proliferation in vitro. Wang Y, Sui J, Li X, Cao F, He J, Yang B, Zhu X, Sun Y, Pu YD. Gene. 2015 Oct 25;571(2):286-91. doi: 10.1016/j.gene.2015.06.084. Epub 2015 Jul 3. PMID: 26149657
Mutation of kri1l causes definitive hematopoiesis failure via PERK-dependent excessive autophagy induction. Jia XE, Ma K, Xu T, Gao L, Wu S, Fu C, Zhang W, Wang Z, Liu K, Dong M, Jing C, Ren C, Dong Z, Chen Y, Jin Y, Huang Q, Chang X, Deng M, Li L, Luo L, Zhu J, Dang Y, Chang HC, Zon LI, Zhou Y, Chen S, Pan W. Cell Res. 2015 Aug;25(8):946-62. doi: 10.1038/cr.2015.81. Epub 2015 Jul 3. PMID: 26138676
Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway. Antunes AT, Goos YJ, Pereboom TC, Hermkens D, Wlodarski MW, Da Costa L, MacInnes AW. PLoS Genet. 2015 Jul 1;11(7):e1005326. doi: 10.1371/journal.pgen.1005326. eCollection 2015 Jul. PMID: 26132763
RAP-011 improves erythropoiesis in zebrafish model of Diamond-Blackfan anemia through antagonizing lefty1. Ear J, Huang H, Wilson T, Tehrani Z, Lindgren A, Sung V, Laadem A, Daniel TO, Chopra R, Lin S. Blood. 2015 Aug 13;126(7):880-90. doi: 10.1182/blood-2015-01-622522. Epub 2015 Jun 24. PMID: 26109203
Successful use of reduced-intensity conditioning and matched-unrelated hematopoietic stem cell transplant in a child with Diamond-Blackfan anemia and cirrhosis. Asquith JM, Copacia J, Mogul MJ, Bajwa RP. Pediatr Transplant. 2015 Sep;19(6):E157-9. doi: 10.1111/petr.12547. Epub 2015 Jun 23. PMID: 26103586
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia. Mercurio S, Aspesi A, Silengo L, Altruda F, Dianzani I, Chiabrando D. Eur J Haematol. 2015 Jun 8. doi: 10.1111/ejh.12599. [Epub ahead of print] PMID:26058344
Bilateral heel pain in a patient with Diamond-Blackfan anaemia. Charles LT, Mehdi AM, Baker D, Edwards MR. Foot (Edinb). 2015 Jun;25(2):110-3. doi: 10.1016/j.foot.2015.03.002. Epub 2015 Mar 9. PMID: 26004126
Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia. Jaako P, Debnath S, Olsson K, Zhang Y, Flygare J, Lindström MS, Bryder D, Karlsson S. Leukemia. 2015 Nov;29(11):2221-9. doi: 10.1038/leu.2015.128. Epub 2015 May 19. PMID: 25987256
PPAR-α and glucocorticoid receptor synergize to promote erythroid progenitor self-renewal. Lee HY, Gao X, Barrasa MI, Li H, Elmes RR, Peters LL, Lodish HF. Nature. 2015 May 11. doi: 10.1038/nature14326. [Epub ahead of print] PMID: 25970251
Immune status of patients with inherited bone marrow failure syndromes. Giri N, Alter BP, Penrose K, Falk RT, Pan Y, Savage SA, Williams M, Kemp TJ, Pinto LA. Am J Hematol. 2015 May 12. doi: 10.1002/ajh.24046. [Epub ahead of print] PMID: 25963299
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. Smetanina NS, Mersiyanova IV, Kurnikova MA, Ovsyannikova GS, Hachatryan LA, Bobrynina VO, Maschan MA, Novichkova GA, Lipton JM, Maschan AA. Pediatr Blood Cancer. 2015 May 6. doi: 10.1002/pbc.25534. [Epub ahead of print] PMID: 25946618
Identification and Fine Mapping of Nuclear and Nucleolar Localization Signals within the Human Ribosomal Protein S17. Kenney SP, Meng XJ. PLoS One. 2015 Apr 8;10(4):e0124396. doi: 10.1371/journal.pone.0124396. eCollection 2015. PMID: 25853866
Elucidation of the EP defect in Diamond-Blackfan anemia by characterization and prospective isolation of human EPs. Iskander D, Psaila B, Gerrard G, Chaidos A, En Foong H, Harrington Y, Karnik LC, Roberts I, de la Fuente J, Karadimitris A. Blood. 2015 Apr 16;125(16):2553-7. doi: 10.1182/blood-2014-10-608042. Epub 2015 Mar 9. PMID: 25755292
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H, Christodoulou J. Clin Genet. 2015 Feb 20. doi: 10.1111/cge.12573. [Epub ahead of print] PMID: 25703294
Global transcriptome and chromatin occupancy analysis reveal the short isoform of GATA1 is deficient for erythroid specification and gene expression. Chlon TM, McNulty M, Goldenson B, Rosinski A, Crispino JD. Haematologica. 2015 May;100(5):575-84. doi: 10.3324/haematol.2014.112714. Epub 2015 Feb 14. PMID: 25682601
Association between donor leukocyte telomere length and survival after unrelated allogeneic hematopoietic cell transplantation for severe aplastic anemia. Gadalla SM, Wang T, Haagenson M, Spellman SR, Lee SJ, Williams KM, Wong JY, De Vivo I, Savage SA. JAMA. 2015 Feb 10;313(6):594-602. doi: 10.1001/jama.2015.7. PMID: 25668263
Genetic predisposition syndromes: when should they be considered in the work-up of MDS? Babushok DV, Bessler M. Best Pract Res Clin Haematol. 2015 Mar;28(1):55-68. doi: 10.1016/j.beha.2014.11.004. Epub 2014 Nov 12. Review. PMID: 25659730
Growth hormone improves short stature in children with Diamond-Blackfan anemia. Howell JC, Joshi SA, Hornung L, Khoury J, Harris RE, Rose SR. Pediatr Blood Cancer. 2015 Mar;62(3):402-8. doi: 10.1002/pbc.25341. Epub 2014 Dec 9. PMID: 25492299
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, Goi K, Matsubara K, Koike K, Ishiguro A, Okamoto Y, Watanabe K, Kanno H, Kojima S, Miyano S, Kenmochi N, Ogawa S, Ito E. Br J Haematol. 2015 Mar;168(6):854-64. doi: 10.1111/bjh.13229. Epub 2014 Nov 25. PMID: 25424902
Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes. Sklavos MM, Stratton P, Giri N, Alter BP, Savage SA, Pinto LA. J Clin Endocrinol Metab. 2015 Feb;100(2):E197-203. doi: 10.1210/jc.2014-2838. Epub 2014 Nov 18. PMID: 25405500
Bmi1 promotes erythroid development through regulating ribosome biogenesis. Gao R, Chen S, Kobayashi M, Yu H, Zhang Y, Wan Y, Young SK, Soltis A, Yu M, Vemula S, Fraenkel E, Cantor A, Antipin Y, Xu Y, Yoder MC, Wek RC, Ellis SR, Kapur R, Zhu X, Liu Y. Stem Cells. 2015 Mar;33(3):925-38. doi: 10.1002/stem.1896. PMID: 25385494
Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.Hamilton JG, Hutson SP, Frohnmayer AE, Han PK, Peters JA, Carr AG, Alter BP. J Genet Couns. 2014 Dec 27. [Epub ahead of print] PMID: 25540896
Ribosomopathies: mechanisms of disease. Nakhoul H, Ke J, Zhou X, Liao W, Zeng SX, Lu H. Clin Med Insights Blood Disord. 2014 Aug 14;7:7-16. doi: 10.4137/CMBD.S16952. eCollection 2014. Review. PMID: 25512719
Ribosomal stress activates eEF2K-eEF2 pathway causing translation elongation inhibition and recruitment of terminal oligopyrimidine (TOP) mRNAs on polysomes. Gismondi A, Caldarola S, Lisi G, Juli G, Chellini L, Iadevaia V, Proud CG, Loreni F. Nucleic Acids Res. 2014 Nov 10;42(20):12668-80. doi: 10.1093/nar/gku996. Epub 2014 Oct 20. PMID: 25332393
Telomere length in inherited bone marrow failure syndromes. Alter BP, Giri N, Savage SA, Rosenberg PS. Haematologica. 2015 Jan;100(1):49-54. doi: 10.3324/haematol.2014.114389. Epub 2014 Oct 10. PMID: 2530461
TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors. Bibikova E, Youn MY, Danilova N, Ono-Uruga Y, Konto-Ghiorghi Y, Ochoa R, Narla A, Glader B, Lin S, Sakamoto KM. Blood. 2014 Dec 11;124(25):3791-8. doi: 10.1182/blood-2014-06-584656. Epub 2014 Sep 30. PMID: 25270909
Mapping iron in human heart tissue with synchrotron x-ray fluorescence microscopy and cardiovascular magnetic resonance. House MJ, Fleming AJ, de Jonge MD, Paterson D, Howard DL, Carpenter JP, Pennell DJ, St Pierre TG. J Cardiovasc Magn Reson. 2014 Sep 27;16:80. doi: 10.1186/s12968-014-0080-2. PMID: 25270330
Meeting the emerging public health needs of persons with blood disorders. Parker CS, Tsai J, Siddiqi AE, Atrash HK, Richardson LC. Am J Prev Med. 2014 Nov;47(5):658-63. doi: 10.1016/j.amepre. 2014.07.008. Epub 2014 Sep 19. PMID: 25245797
Marrow failure: a window into ribosome biology. Ruggero D, Shimamura A. Blood. 2014 Oct 30;124(18):2784-92. doi: 10.1182/blood-2014-04-526301. Epub 2014 Sep 18. Review. PMID: 25237201
RAP-011, an activin receptor ligand trap, increases hemoglobin concentration in hepcidin transgenic mice. Langdon JM, Barkataki S, Berger AE, Cheadle C, Xue QL, Sung V, Roy CN. Am J Hematol. 2015 Jan;90(1):8-14. doi: 10.1002/ajh.23856. Epub 2014 Oct 25. PMID: 25236856
Pancreatic iron and fat assessment by MRI-R2* in patients with iron overload diseases. Pfeifer CD, Schoennagel BP, Grosse R, Wang ZJ, Graessner J, Nielsen P, Adam G, Fischer R, Yamamura J. J Magn Reson Imaging. 2014 Sep 19. doi: 10.1002/jmri.24752. [Epub ahead of print] PMID: 25236606
Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia. Jaako P, Debnath S, Olsson K, Modlich U, Rothe M, Schambach A, Flygare J, Karlsson S. Haematologica. 2014 Dec;99(12):1792-8. doi: 10.3324/haematol.2014.111195. Epub 2014 Sep 12. PMID: 25216681
Current insights into inherited bone marrow failure syndromes. Chung NG, Kim M. Korean J Pediatr. 2014 Aug;57(8):337-44. doi: 10.3345/kjp.2014.57.8.337. Epub 2014 Aug 25. Review. PMID: 25210520
Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients. Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer C, Vichinsky E. Br J Haematol. 2014 Dec;167(5):692-6. doi: 10.1111/bjh.13081. Epub 2014 Sep 11. PMID: 25209728
Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency. Song B, Zhang Q, Zhang Z, Wan Y, Jia Q, Wang X, Zhu X, Leung AY, Cheng T, Fang X, Yuan W, Jia H. BMC Genomics. 2014 Sep 4;15:759. doi: 10.1186/1471-2164-15-759. PMID: 25189322
A RanGTP-independent mechanism allows ribosomal protein nuclear import for ribosome assembly. Schütz S, Fischer U, Altvater M, Nerurkar P, Peña C, Gerber M, Chang Y, Caesar S, Schubert OT, Schlenstedt G, Panse VG. Elife. 2014 Aug 21;3:e03473. doi: 10.7554/eLife.03473. PMID: 25144938
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients withDiamond Blackfan Anemia. Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, Kossiva L, Kostaridou S, Kattamis A. Pediatr Blood Cancer. 2014 Dec;61(12):2249-55. doi: 10.1002/pbc.25183. Epub 2014 Aug 17. PMID: 25132370
L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way. Narla A, Payne EM, Abayasekara N, Hurst SN, Raiser DM, Look AT, Berliner N, Ebert BL, Khanna-Gupta A. Br J Haematol. 2014 Nov;167(4):524-8. doi: 10.1111/bjh.13069. Epub 2014 Aug 7. PMID: 25098371
Analysis of the interactome of ribosomal protein S19 mutants. Caterino M, Aspesi A, Pavesi E, Imperlini E, Pagnozzi D, Ingenito L, Santoro C, Dianzani I, Ruoppolo M.Proteomics. 2014 Oct;14(20):2286-96. doi: 10.1002/pmic.201300513. Epub 2014 Sep 18. PMID: 25069755
Successful haematopoietic stem cell transplantation in 44 children from healthy siblings conceived after preimplantation HLA matching.Kahraman S, Beyazyurek C, Yesilipek MA, Ozturk G, Ertem M, Anak S, Kansoy S, Aksoylar S, Kuşkonmaz B, Oniz H, Slavin S, Karakas Z, Tac HA, Gulum N, Ekmekci GC. Reprod Biomed Online. 2014 Sep;29(3):340-51. doi: 10.1016/j.rbmo.2014.05.010. Epub 2014 Jun 12. PMID: 25066893
Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.Zhang Y, Ear J, Yang Z, Morimoto K, Zhang B, Lin S. Cell Death Dis. 2014 Jul 24;5:e1352. doi: 10.1038/cddis.2014.318. PMID: 25058426
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. Farrar JE, Quarello P, Fisher R, O’Brien KA, Aspesi A, Parrella S, Henson AL, Seidel NE, Atsidaftos E, Prakash S, Bari S, Garelli E, Arceci RJ, Dianzani I, Ramenghi U, Vlachos A, Lipton JM, Bodine DM, Ellis SR. Am J Hematol. 2014 Oct;89(10):985-91. doi: 10.1002/ajh.23807. Epub 2014 Aug 4. PMID: 25042156
Pearson syndrome in a Diamond-Blackfan anemia cohort. Alter BP. Blood. 2014 Jul 17;124(3):312-3. doi: 10.1182/blood-2014-04-571687. PMID: 25035146
Reduced translation of GATA1 in Diamond-Blackfan anemia. Boultwood J, Pellagatti A.Nat Med. 2014 Jul;20(7):703-4. doi: 10.1038/nm.3630. No abstract available. PMID: 24999938
Nom1 mediates pancreas development by regulating ribosome biogenesis in zebrafish. Qin W, Chen Z, Zhang Y, Yan R, Yan G, Li S, Zhong H, Lin S. PLoS One. 2014 Jun 26;9(6):e100796. doi: 10.1371/journal.pone.0100796. eCollection 2014.PMID: 24967912
High-throughput transcriptome sequencing identifies candidate genetic modifiers of vulnerability to fetal alcohol spectrum disorders. Garic A, Berres ME, Smith SM. Alcohol Clin Exp Res. 2014 Jul;38(7):1874-82. doi: 10.1111/acer.12457. Epub 2014 Jun 24. PMID: 24962712
Altered translation of GATA1 in Diamond-Blackfan anemia. Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG. Nat Med. 2014 Jul;20(7):748-53. doi: 10.1038/nm.3557. Epub 2014 Jun 22. PMID: 24952648
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K. Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18. PMID: 24942156
Inherited bone marrow failure syndromes in adolescents and young adults. Wilson DB, Link DC, Mason PJ, Bessler M. Ann Med. 2014 Sep;46(6):353-63. doi: 10.3109/07853890.2014.915579. Epub 2014 Jun 3. Review. PMID: 24888387
Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway. Heijnen HF, van Wijk R, Pereboom TC, Goos YJ, Seinen CW, van Oirschot BA, van Dooren R, Gastou M, Giles RH, van Solinge W, Kuijpers TW, Gazda HT, Bierings MB, Da Costa L, MacInnes AW. PLoS Genet. 2014 May 29;10(5):e1004371. doi: 10.1371/journal.pgen.1004371. eCollection 2014. PMID: 24875531
Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia. Aspesi A, Pavesi E, Robotti E, Crescitelli R, Boria I, Avondo F, Moniz H, Da Costa L, Mohandas N, Roncaglia P, Ramenghi U, Ronchi A, Gustincich S, Merlin S, Marengo E, Ellis SR, Follenzi A, Santoro C, Dianzani I. Gene. 2014 Jul 25;545(2):282-9. doi: 10.1016/j.gene.2014.04.077. Epub 2014 May 15. PMID: 24835311
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA. Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14. PMID: 24829207
The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia. Danilova N, Bibikova E, Covey TM, Nathanson D, Dimitrova E, Konto Y, Lindgren A, Glader B, Radu CG, Sakamoto KM, Lin S. Dis Model Mech. 2014 Jul;7(7):895-905. doi: 10.1242/dmm.015495. Epub 2014 May 8. PMID: 24812435
Recurrent GATA1 mutations in Diamond-Blackfan anaemia. Klar J, Khalfallah A, Arzoo PS, Gazda HT, Dahl N. Br J Haematol. 2014 Sep;166(6):949-51. doi: 10.1111/bjh.12919. Epub 2014 Apr 28. No abstract available. PMID: 24766296
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S. Blood. 2014 Jul 17;124(3):437-40. doi: 10.1182/blood-2014-01-545830. Epub 2014 Apr 15. PMID: 24735966
Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency. Pospisilova D, Holub D, Zidova Z, Sulovska L, Houda J, Mihal V, Hadacova I, Radova L, Dzubak P, Hajduch M, Divoky V, Horvathova M. Haematologica. 2014 Jul;99(7):e118-21. doi: 10.3324/haematol.2014.104034. Epub 2014 Apr 11. No abstract available. PMID: 24727814
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. Chae H, Park J, Lee S, Kim M, Kim Y, Lee JW, Chung NG, Cho B, Jeong DC, Kim J, Kim JR, Park G. Exp Mol Med. 2014 Mar 28;46:e88. doi: 10.1038/emm.2013.159. PMID: 24675553
Diamond Blackfan anemia: a model for the translational approach to understanding human disease. Vlachos A, Blanc L, Lipton JM. Expert Rev Hematol. 2014 Jun;7(3):359-72. doi: 10.1586/17474086.2014.897923. Epub 2014 Mar 26. Review. PMID: 24665981
Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children. Gelbart D. JAAPA. 2014 Apr;27(4):36-44. doi: 10.1097/01.JAA.0000442702.95598.fc. Review. PMID: 24662257
Transient erythroblastopenia of childhood is an underdiagnosed and self-limiting disease. van den Akker M, Dror Y, Odame I. Acta Paediatr. 2014 Jul;103(7):e288-94. doi: 10.1111/apa.12634. Epub 2014 Apr 29. PMID: 24635829
Diamond Blackfan anemia: a Cheshire cat of hematology. Farrar JE. Pediatr Blood Cancer. 2014 Jul;61(7):1154-5. doi: 10.1002/pbc.25014. Epub 2014 Mar 14. No abstract available. PMID: 24634369
Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry. Fagioli F, Quarello P, Zecca M, Lanino E, Corti P, Favre C, Ripaldi M, Ramenghi U, Locatelli F, Prete A. Br J Haematol. 2014 Jun;165(5):673-81. doi: 10.1111/bjh.12787. Epub 2014 Feb 24. PMID: 24611452
A Case of Diamond Blackfan Anemia (DBA) with Mutation in Ribosomal Protein S19. Solomon J, Kamalammal R, Menezes GA, Sait MY, Lohith H, Ramalingam R. J Clin Diagn Res. 2014 Jan;8(1):179-80. doi: 10.7860/JCDR/2014/7018.3899. Epub 2014 Oct 23. PMID: 24596764
p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5. Singh SA, Goldberg TA, Henson AL, Husain-Krautter S, Nihrane A, Blanc L, Ellis SR, Lipton JM, Liu JM. PLoS One. 2014 Feb 18;9(2):e89098. doi: 10.1371/journal.pone.0089098. eCollection 2014. PMID: 24558476
The emerging roles of ribosome biogenesis in craniofacial development. Ross AP, Zarbalis KS. Front Physiol. 2014 Feb 4;5:26. doi: 10.3389/fphys.2014.00026. eCollection 2014. Review. PMID: 24550838
[Turner-like syndrome: a case report]. Velletri MR, Valenzise M, Wasniewska M, Arasi S, Santisi A, Romeo M, Pitrolo E, Santucci S, Corica D, Crisafulli R, Zirilli G. Pediatr Med Chir. 2013 Sep-Oct;35(5):228-30. Italian. PMID: 24516945
Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes. Pereboom TC, Bondt A, Pallaki P, Klasson TD, Goos YJ, Essers PB, Groot Koerkamp MJ, Gazda HT, Holstege FC, Costa LD, MacInnes AW. Exp Hematol. 2014 May;42(5):394-403.e4. doi: 10.1016/j.exphem.2013.12.010. Epub 2014 Jan 23. PMID: 24463277
Dysferlin and other non-red cell proteins accumulate in the red cell membrane of diamond-blackfan anemia patients. Pesciotta EN, Sriswasdi S, Tang HY, Speicher DW, Mason PJ, Bessler M. PLoS One. 2014 Jan 14;9(1):e85504. doi: 10.1371/journal.pone.0085504. eCollection 2014 Jan 14. PMID: 24454878 [PubMed – in process]
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. Parrella S, Aspesi A, Quarello P, Garelli E, Pavesi E, Carando A, Nardi M, Ellis SR, Ramenghi U, Dianzani I. Pediatr Blood Cancer. 2014 Jan 22. doi: 10.1002/pbc.24944. [Epub ahead of print] PMID: 24453067 [PubMed – as supplied by publisher]
Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure in zebrafish. Yadav GV, Chakraborty A, Uechi T, Kenmochi N. Int J Biochem Cell Biol. 2014 Jan 11. pii: S1357-2725(14)00015-6. doi: 10.1016/j.biocel.2014.01.006. [Epub ahead of print] PMID: 24417973 [PubMed – as supplied by publisher]
Nucleolar stress in Diamond Blackfan anemia pathophysiology. Ellis SR. Biochim Biophys Acta. 2014 Jan 8. pii: S0925-4439(14)00002-7. doi: 10.1016/j.bbadis.2013.12.013. [Epub ahead of print] PMID: 24412987 [PubMed – as supplied by publisher]
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. Burgess T, Brown NJ, Stark Z, Bruno DL, Oertel R, Chong B, Calabro V, Kornberg A, Sanderson C, Kelly J, Howell KB, Savarirayan R, Hinds R, Greenway A, Slater HR, White SM. Am J Med Genet A. 2014 Jan;164(1):77-86. doi: 10.1002/ajmg.a.36203. Epub 2013 Nov 21. PMID: 24352913 [PubMed – in process]
Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing.Zhang Z, Jia H, Zhang Q, Wan Y, Zhou Y, Jia Q, Zhang W, Yuan W, Cheng T, Zhu X, Fang X. BMC Genomics. 2013 Dec 17;14:896. doi: 10.1186/1471-2164-14-896. PMID: 24341334 [PubMed – in process]
Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing.Zhang Z, Jia H, Zhang Q, Wan Y, Zhou Y, Jia Q, Zhang W, Yuan W, Cheng T, Zhu X, Fang X. BMC Genomics. 2013 Dec 17;14:896. doi: 10.1186/1471-2164-14-896. PMID: 24341334 [PubMed – in process]
Persistent Pulmonary Hypertension of the Newborn Associated With Severe Congenital Anemia of Various Etiologies. Landau D, Kapelushnik J, Harush MB, Marks K, Shalev H. J Pediatr Hematol Oncol. 2013 Dec 4. [Epub ahead of print] PMID: 24309603 [PubMed – as supplied by publisher]
VarRanker: rapid prioritization of sequence variations associated with human disease. O’Fallon BD, Wooderchak-Donahue W, Bayrak-Toydemir P, Crockett D. BMC Bioinformatics. 2013;14 Suppl 13:S1. doi: 10.1186/1471-2105-14-S13-S1. Epub 2013 Oct 1. PMID: 24268183 [PubMed – in process]
A novel reduced intensity conditioning regimen for unrelated umbilical cord blood transplantation in children with non-malignant diseases.Parikh SH, Mendizabal A, Benjamin CL, Komanduri KV, Antony J, Petrovic A, Hale G, Driscoll TA, Martin PL, Page K, Flickinger K, Moffet J, Niedzwiecki D, Kurtzberg J, Szabolcs P. Biol Blood Marrow Transplant. 2013 Nov 29. doi:pii: S1083-8791(13)00558-2. 10.1016/j.bbmt.2013.11.021. [Epub ahead of print] PMID:24296492 [PubMed – as supplied by publisher]
Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders. Trainor PA, Merrill AE. Biochim Biophys Acta. 2013 Nov 16. doi:pii: S0925-4439(13)00335-9.10.1016/j.bbadis.2013.11.010. [Epub ahead of print] PMID: 24252615 [PubMed – as supplied by publisher]
Genomic characterization of the inherited bone marrow failure syndromes. Khincha PP, Savage SA. Semin Hematol. 2013 Oct;50(4):333-47. doi: 10.1053/j.seminhematol.2013.09.002. PMID: 24246701 [PubMed – in process]
Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways. Jia Q, Zhang Q, Zhang Z, Wang Y, Zhang W, Zhou Y, Wan Y, Cheng T, Zhu X, Fang X, Yuan W, Jia H. PLoS One. 2013 Nov 11;8(11). doi: 10.1371/annotation/df71e418-b886-49ea-bb6a-b96341b27cfc. PMID: 24244255 [PubMed – as supplied by publisher]
The inherited bone marrow failure syndromes. Chirnomas SD, Kupfer GM. Pediatr Clin North Am. 2013 Dec;60(6):1291-310. doi: 10.1016/j.pcl.2013.09.007. PMID: 24237972 [PubMed – in process]
Using induced human pluripotent stem cells to study Diamond-Blackfan anemia: an outlook on the clinical possibilities. Mason PJ, Perdigones N, Bessler M. Expert Rev Hematol. 2013 Dec;6(6):627-9. doi: 10.1586/17474086.2013.859521. No abstract available. PMID: 24219546 [PubMed – in process]
A Generic, Flexible Protocol for Preimplantation Human Leukocyte Antigen Typing Alone or in Combination with a Monogenic Disease, for Rapid Case Work-up and Application. Kakourou G, Destouni A, Vrettou C, Traeger-Synodinos J, Kanavakis E. Hemoglobin. 2013 Oct 16. [Epub ahead of print] PMID: 24131134 [PubMed – as supplied by publisher]
Transcriptome analysis of the zebrafish model of Diamond-Blackfan anemia from RPS19 deficiency via p53-dependent and -independent pathways. Jia Q, Zhang Q, Zhang Z, Wang Y, Zhang W, Zhou Y, Wan Y, Cheng T, Zhu X, Fang X, Yuan W, Jia H. PLoS One. 2013 Aug 19;8(8):e71782. doi: 10.1371/journal.pone.0071782. PMID: 23990987 [PubMed – in process]
Genetics. Mysterious ribosomopathies. McCann KL, Baserga SJ. Science. 2013 Aug 23;341(6148):849-50. doi: 10.1126/science.1244156. No abstract available. PMID: 23970686 [PubMed – indexed for MEDLINE]
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. Vlachos A, Farrar JE, Atsidaftos E, Muir E, Narla A, Markello TC, Singh SA, Landowski M, Gazda HT, Blanc L, Liu JM, Ellis SR, Arceci RJ, Ebert BL, Bodine DM, Lipton JM. Blood. 2013 Oct 3;122(14):2487-90. doi: 10.1182/blood-2013-06-509935. Epub 2013 Aug 13. PMID: 23943650 [PubMed – in process]
Defects in DBA: more than meets the eye. Da Costa L. Blood. 2013 Aug 8;122(6):856-7. doi: 10.1182/blood-2013-06-508465. PMID: 23929834 [PubMed – indexed for MEDLINE]
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. Matsui K, Giri N, Alter BP, Pinto LA. Br J Haematol. 2013 Oct;163(1):81-92. doi: 10.1111/bjh.12475. Epub 2013 Jul 25. PMID: 23889587 [PubMed – in process]
The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders. Raiser DM, Narla A, Ebert BL. Leuk Lymphoma. 2013 Aug 28. [Epub ahead of print] PMID: 23863123 [PubMed – as supplied by publisher]
Tissue iron evaluation in chronically transfused children shows significant levels of iron loading at a very young age. Berdoukas V, Nord A, Carson S, Puliyel M, Hofstra T, Wood J, Coates TD. Am J Hematol. 2013 Nov;88(11):E283-5. doi: 10.1002/ajh.23543. Epub 2013 Sep 2. PMID: 23861216 [PubMed – in process]
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Landowski M, O’Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT. Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30. PMID: 23812780
Diamond blackfan anemia: a tertiary care center experience. Singh AK, Radhakrishnan N, Seth T, Mishra P, Mahapatra M, Pati H. Mediterr J Hematol Infect Dis. 2013 Jun 3;5(1):e2013039. doi: 10.4084/MJHID.2013.039. Print 2013. PMID: 23795277 [PubMed]
Cardiovascular function and treatment in β-thalassemia major: a consensus statement from the American Heart Association. Pennell DJ, Udelson JE, Arai AE, Bozkurt B, Cohen AR, Galanello R, Hoffman TM, Kiernan MS, Lerakis S, Piga A, Porter JB, Walker JM, Wood J; American Heart Association Committee on Heart Failure and Transplantation of the Council on Clinical Cardiology and Council on Cardiovascular Radiology and Imaging. Circulation. 2013 Jul 16;128(3):281-308. doi: 10.1161/CIR.0b013e31829b2be6. Epub 2013 Jun 17. Erratum in: Circulation. 2013 Sep 24;128(13):e203. PMID: 23775258 [PubMed – indexed for MEDLINE]
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. Garçon L, Ge J, Manjunath SH, Mills JA, Apicella M, Parikh S, Sullivan LM, Podsakoff GM, Gadue P, French DL, Mason PJ, Bessler M, Weiss MJ. Blood. 2013 Aug 8;122(6):912-21. doi: 10.1182/blood-2013-01-478321. Epub 2013 Jun 6. PMID: 23744582 [PubMed – indexed for MEDLINE]
The ribosomal protein S26 regulates p53 activity in response to DNA damage. Cui D, Li L, Lou H, Sun H, Ngai SM, Shao G, Tang J. Oncogene. 2013 Jun 3. doi: 10.1038/onc.2013.170. [Epub ahead of print] PMID: 23728348 [PubMed – as supplied by publisher]
Perturbation of fetal hematopoiesis in a mouse model of Down syndrome’s transient myeloproliferative disorder. Birger Y, Goldberg L, Chlon TM, Goldenson B, Muler I, Schiby G, Jacob-Hirsch J, Rechavi G, Crispino JD, Izraeli S. Blood. 2013 Aug 8;122(6):988-98. doi: 10.1182/blood-2012-10-460998. Epub 2013 May 29. PMID: 23719302 [PubMed – indexed for MEDLINE]
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Gerrard G, Valgañón M, Foong HE, Kasperaviciute D, Iskander D, Game L, Müller M, Aitman TJ, Roberts I, de la Fuente J, Foroni L, Karadimitris A. Br J Haematol. 2013 Aug;162(4):530-6. doi: 10.1111/bjh.12397. Epub 2013 May 30. PMID: 23718193 [PubMed – indexed for MEDLINE]
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. Alter BP, Rosenberg PS, Day T, Menzel S, Giri N, Savage SA, Thein SL. Br J Haematol. 2013 Aug;162(4):542-6. doi: 10.1111/bjh.12399. Epub 2013 May 29. PMID: 23713742 [PubMed – indexed for MEDLINE]
[One case of torsades de pointes with Aase’s syndrome induced by moxifloxacin]. Cheng L, Fang Y, Li JQ. Zhonghua Xin Xue Guan Bing Za Zhi. 2013 Jan;41(1):69-70. Chinese.
First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia. Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R. Am J Hematol. 2013 Apr;88(4):340-1. No abstract available. PMID: 23641487 [PubMed – indexed for MEDLINE]
[The pure red cell aplasia in children (observation 2010-2012 years)].Mtvarelidze Z, Kvezereli-Kopadze A, Kvezereli-Kopadze M. Georgian Med News. 2013 Mar;(216):46-51. Russian. PMID: 23567308 [PubMed – in process.
Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA. Preti M, O’Donohue MF, Montel-Lehry N, Bortolin-Cavaillé ML, Choesmel V, Gleizes PE. Nucleic Acids Res. 2013 Apr;41(8):4709-23. doi: 10.1093/nar/gkt160. Epub 2013 Mar 12. PMID: 23482395 [PubMed – indexed for MEDLINE]
Clinical utility gene card for: Diamond-Blackfan anemia–update 2013.Vlachos A, Dahl N, Dianzani I, Lipton JM. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.34. Epub 2013 Mar 6. No abstract available. PMID: 23463023 [PubMed – in process]
Immune aregenerative anemia without erythroblastopenia: a previously undescribed condition. Brousse V, Brouzes C, Sicre de Fontbrune F, Casadevall N, Varet B. Ann Hematol. 2013 Sep;92(9):1289-90. doi: 10.1007/s00277-013-1696-2. Epub 2013 Feb 14. No abstract available. PMID: 23408098 [PubMed – indexed for MEDLINE]
Genetics of ribosomal proteins: “curiouser and curiouser”. Terzian T, Box N. PLoS Genet. 2013;9(1):e1003300. doi: 10.1371/journal.pgen.1003300. Epub 2013 Jan 31. No abstract available. PMID: 23382707 [PubMed – indexed for MEDLINE]
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes. Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA. PLoS Genet. 2013;9(1):e1003094. doi: 10.1371/journal.pgen.1003094. Epub 2013 Jan 31. PMID: 23382688 [PubMed – indexed for MEDLINE]
Quality control mechanisms during ribosome maturation. Karbstein K. Trends Cell Biol. 2013 May;23(5):242-50. doi: 10.1016/j.tcb.2013.01.004. Epub 2013 Feb 1. Review. PMID: 23375955 [PubMed – indexed for MEDLINE]
First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R. Am J Hematol. 2013 Feb;88(2):160. doi: 10.1002/ajh.23366. No abstract available. Erratum in: Am J Hematol. 2013 Apr;88(4):340-1. PMID: 23349008 [PubMed – indexed for MEDLINE]
Dual functions of the C5a receptor as a connector for the K562 erythroblast-like cell-THP-1 macrophage-like cell island and as a sensor for the differentiation of the K562 erythroblast-like cell during haemin-induced erythropoiesis. Nishiura H, Zhao R, Yamamoto T. Clin Dev Immunol. 2012;2012:187080. doi: 10.1155/2012/187080. Epub 2012 Dec 30. PMID: 23346183 [PubMed – indexed for MEDLINE]
Inherited bone marrow failure syndromes in 2012. Sakaguchi H, Nakanishi K, Kojima S. Int J Hematol. 2013 Jan;97(1):20-9. doi: 10.1007/s12185-012-1249-9. Epub 2012 Dec 28. PMID: 23271412 [PubMed – in process]
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia. Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K, Alter BP, Glader B. Br J Haematol. 2013 Feb;160(4):547-54. doi: 10.1111/bjh.12167. Epub 2012 Dec 17. PMID: 23252420 [PubMed – indexed for MEDLINE]
Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. Doelken SC, Seeger K, Hundsdoerfer P, Weber-Ferro W, Klopocki E, Graul-Neumann L. Am J Med Genet A. 2013 Jan;161A(1):218-24. doi: 10.1002/ajmg.a.35695. Epub 2012 Dec 14. PMID: 23239641 [PubMed – indexed for MEDLINE]
Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies. Boultwood J, Yip BH, Vuppusetty C, Pellagatti A, Wainscoat JS. Adv Biol Regul. 2013 Jan;53(1):8-17. doi: 10.1016/j.jbior.2012.09.002. Epub 2012 Sep 13. Review. PMID: 23031788 [PubMed – indexed for MEDLINE]
Osteosarcoma after bone marrow transplantation. Ueki H, Maeda N, Sekimizu M, Tsukushi S, Nishida Y, Horibe K. J Pediatr Hematol Oncol. 2013 Mar;35(2):134-8. doi: 10.1097/MPH.0b013e3182677f19. PMID: 22995925 [PubMed – indexed for MEDLINE]
[Analysis of mutations of ribosomal protein genes in 21 cases of Diamond-Blackfan anemia]. Chen YM, Ruan M, Zou Y, Guo Y, Wang SC, Chen XJ, Zhang L, Liu TF, Zhu XF. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Dec;20(6):1414-8. Chinese. PMID: 23257444 [PubMed – in process]
Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia. Horos R, von Lindern M. Br J Haematol. 2012 Dec;159(5):514-27. doi: 10.1111/bjh.12058. Epub 2012 Sep 27. Review. PMID: 23016900 [PubMed – indexed for MEDLINE]
L-Leucine alleviates Diamond-Blackfan anemia. Kamimae-Lanning AN, Kurre P. Blood. 2012 Sep 13;120(11):2157-8. doi: 10.1182/blood-2012-07-443978. No abstract available. PMID: 22977078 [PubMed]
Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia. Neuwirtova R, Fuchs O, Holicka M, Vostry M, Kostecka A, Hajkova H, Jonasova A, Cermak J, Cmejla R, Pospisilova D, Belickova M, Siskova M, Hochova I, Vondrakova J, Sponerova D, Kadlckova E, Novakova L, Brezinova J, Michalova K. Ann Hematol. 2013 Jan;92(1):11-8. doi: 10.1007/s00277-012-1568-1. Epub 2012 Sep 11. PMID: 22965552 [PubMed – indexed for MEDLINE]
Transfusion-dependent anaemia of undetermined origin: a distinctive syndrome in paediatric medical tourism. Lee AC. Ann Acad Med Singapore. 2012 Jul;41(7):305-8. PMID: 22892608 [PubMed – indexed for MEDLINE]
Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro. Moniz H, Gastou M, Leblanc T, Hurtaud C, Crétien A, Lécluse Y, Raslova H, Larghero J, Croisille L, Faubladier M, Bluteau O, Lordier L, Tchernia G, Vainchenker W, Mohandas N, Da Costa L; DBA Group of Société d’Hématologie et d’Immunologie Pédiatrique-SHIP. Cell Death Dis. 2012 Jul 26;3:e356. doi: 10.1038/cddis.2012.88. PMID: 22833095 [PubMed – indexed for MEDLINE]
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation.Farruggia P, Quarello P, Garelli E, Paolicchi O, Ruffo GB, Cuccia L, Cannella S, Bruno G, D’Angelo P. Pediatr Rep. 2012 Apr 2;4(2):e25. doi: 10.4081/pr.2012.e25. Epub 2012 Apr 26. PMID: 22803003 [PubMed]
Eltrombopag fails to improve severe thrombocytopenia in late-stage dyskeratosis congenita and diamond-blackfan-anaemia.
Trautmann K, Jakob C, von Grünhagen U, Schleyer E, Brümmendorf TH, Siegert G, Ehninger G, Platzbecker U.Thromb Haemost. 2012 Jun 28;108(2). [Epub ahead of print] No abstract available. PMID: 22739569 [PubMed – as supplied by publisher]
[Analysis of clinical characteristics in 45 cases of diamond-blackfan anemia].
Chen YM, Ruan M, Wang YQ, Zou Y, Zhang L, Liu TF, Zhu XF. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Jun;20(3):646-9. Chinese. PMID: 22739174 [PubMed – in process]
L-Leucine improves anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q)MDS by activating the mTOR pathway.
Payne E, Virgilio M, Narla A, Sun H, Levine M, Paw BH, Berliner N, Look AT, Ebert B, Khanna-Gupta A. Blood. 2012 Jun 25. [Epub ahead of print] PMID: 22734070 [PubMed – as supplied by publisher]
Alterations in the ribosomal machinery in cancer and hematologic disorders.
Shenoy N, Kessel R, Bhagat T, Bhattacharya S, Yu Y, McMahon C, Verma A. J Hematol Oncol. 2012 Jun 18;5(1):32. [Epub ahead of print] PMID: 22709827 [PubMed – as supplied by publisher]
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT. J Clin Invest. 2012 Jul 2;122(7):2439-43. doi: 10.1172/JCI63597. Epub 2012 Jun 18. PMID: 22706301 [PubMed – in process]
What’s in a name?
Weiss MJ, Mason PJ, Bessler M. J Clin Invest. 2012 Jul 2;122(7):2346-9. doi: 10.1172/JCI63989. Epub 2012 Jun 18. PMID: 22706300 [PubMed – in process]
High frequency of ribosomal protein gene deletions in Italian Diamond Blackfan anemia patients detected by Multiplex Ligation-dependent Probe Amplification (MLPA) assay.
Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U. Haematologica. 2012 Jun 11. [Epub ahead of print] PMID: 22689679 [PubMed – as supplied by publisher]
Hemin augments growth and hemoglobinization of erythroid precursors from patients with diamond-blackfan anemia.
Fibach E, Aker M. Anemia. 2012;2012:940260. Epub 2012 May 13. PMID: 22655180 [PubMed – in process]
Progress towards Mechanism-Based Treatment for Diamond-Blackfan Anemia.
Sjögren SE, Flygare J. ScientificWorldJournal. 2012;2012:184362. Epub 2012 Apr 24. PMID: 22619618 [PubMed – in process]
A novel mutation of ribosomal protein s10 gene in a Japanese patient with diamond-blackfan anemia.
Yazaki M, Kamei M, Ito Y, Konno Y, Wang R, Toki T, Ito E. J Pediatr Hematol Oncol. 2012 May;34(4):293-5. PMID: 22510774 [PubMed – in process]
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.
Yanatori I, Yasui Y, Miura K, Kishi F. Blood Cells Mol Dis. 2012 Apr 5. [Epub ahead of print] PMID: 22483575 [PubMed – as supplied by publisher]
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Pospisilova D, Cmejlova J, Ludikova B, Stary J, Cerna Z, Hak J, Timr P, Petrtylova K, Blatny J, Vokurka S, Cmejla R. Blood Cells Mol Dis. 2012 Apr 15;48(4):209-18. Epub 2012 Mar 3. PMID: 22381658 [PubMed – in process]
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.
Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. Blood. 2012 Apr 19;119(16):3815-9. Epub 2012 Feb 23. PMID: 22362038[PubMed – in process]
Chronically Transfused Pediatric Sickle Cell Patients are Protected from Cardiac Iron Overload.
Kaushik N, Eckrich MJ, Parra D, Yang E. Pediatr Hematol Oncol. 2012 Apr;29(3):254-60. Epub 2012 Feb 3.PMID: 22303979 [PubMed – in process]
Establishing Rps6 hemizygous mice as a model for studying how ribosomal protein haploinsufficiency impairs erythropoiesis.
Keel SB, Phelps S, Sabo KM, O’Leary MN, Kirn-Safran CB, Abkowitz JL. Exp Hematol. 2012 Apr;40(4):290-4. Epub 2011 Dec 20. PMID: 22198155 [PubMed – in process]
Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activation.
Taylor AM, Humphries JM, White RM, Murphey RD, Burns CE, Zon LI. Exp Hematol. 2012 Mar;40(3):228-237.e5. doi: 10.1016/j.exphem.2011.11.007.. Epub 2011 Nov 25.PMID:22120640 [PubMed – indexed for MEDLINE]
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Kojima S, Kitoh T, Goi K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I.Blood. 2012 Mar 8;119(10):2376-84. Epub 2012 Jan 18. PMID: 22262766[PubMed – in process]
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda HT, Preti M, Sheen MR, O’Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Hum Mutat. 2012 Mar 19. doi: 10.1002/humu.22081. [Epub ahead of print] PMID: 22431104 [PubMed – as supplied by publisher]
Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.
Horos R, Ijspeert H, Pospisilova D, Sendtner R, Andrieu-Soler C, Taskesen E, Nieradka A, Cmejla R, Sendtner M, Touw IP, von Lindern M. Blood. 2012 Jan 5;119(1):262-72. Epub 2011 Nov 4.PMID:22058113[PubMed – indexed for MEDLINE]
Diamond-blackfan anemia and isolated cleft palate.
Macey GL, Azzawi K. Cleft Palate Craniofac J. 2012 Jan;49(1):124. No abstract available. PMID: 22242723 [PubMed – in process]
Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM. Blood. 2011 Dec 22;118(26):6943-51. Epub 2011 Nov 1. PMID:22045982[PubMed – indexed for MEDLINE]
Fetal anemia of unknown cause–a diagnostic challenge.
Amann C, Geipel A, Müller A, Heep A, Ritgen J, Stressig R, Kozlowski P, Gembruch U, Berg C. Ultraschall Med. 2011 Dec;32 Suppl 2:E134-40. Epub 2011 Dec 9. PMID: 22161617[PubMed – in process]
Diamond Blackfan anemia.
Ball S.Hematology Am Soc Hematol Educ Program. 2011;2011:487-91. Review.PMID: 22160079 [PubMed – indexed for MEDLINE]
Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia.
Jaako P, Flygare J, Olsson K, Quere R, Ehinger M, Henson A, Ellis S, Schambach A, Baum C, Richter J, Larsson J, Bryder D, Karlsson S.Blood. 2011 Dec 1;118(23):6087-96. Epub 2011 Oct 11.PMID:21989989[PubMed – indexed for MEDLINE]
Guarding the ‘translation apparatus’: defective ribosome biogenesis and the p53 signaling pathway.
Chakraborty A, Uechi T, Kenmochi N. Wiley Interdiscip Rev RNA. 2011 Jul-Aug;2(4):507-22. doi: 10.1002/wrna.73. Epub 2011 Jan 20. Review.PMID: 21957040 [PubMed – indexed for MEDLINE]
Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome.
Boultwood J, Pellagatti A, Wainscoat JS. Adv Enzyme Regul. 2011 Sep 12. [Epub ahead of print] No abstract available. PMID: 21930148 [PubMed – as supplied by publisher]
Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome.
McGowan KA, Pang WW, Bhardwaj R, Perez MG, Pluvinage JV, Glader BE, Malek R, Mendrysa SM, Weissman IL, Park CY, Barsh GS. Blood. 2011 Sep 29;118(13):3622-33. Epub 2011 Jul 25. PMID: 21788341 [PubMed – in process]
Oral and dental manifestations of diamond-blackfan anemia: case reports.
Ozden FO, Gunduz K, Ozden B, Isci KD, Fisgin T. Eur J Dent. 2011 Jul;5(3):344-8. PMID: 21769279 [PubMed – in process]
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.
Varricchio L, Godbold J, Scott SA, Whitsett C, Da Costa L, Pospisilova D, Garelli E, Quarello P, Ramenghi U, Migliaccio AR. Blood. 2011 Jul 14;118(2):473-4. No abstract available. PMID: 21757629 [PubMed – indexed for MEDLINE]
Managing the difficult case of fetal anemia.
Zhang EG, Regan F, Layton M, Paramasivam G, Wyatt-Ashmead J, Roberts I, Kumar S. J Matern Fetal Neonatal Med. 2011 Jun 30. [Epub ahead of print] PMID: 21714692 [PubMed – as supplied by publisher]
Neutrophil functions in patients with inherited bone marrow failure syndromes.
Rochowski A, Sun C, Glogauer M, Alter BP. Pediatr Blood Cancer. 2011 Aug;57(2):306-9. doi: 10.1002/pbc.22885. Epub 2010 Nov 5. PMID: 21671367 [PubMed – indexed for MEDLINE]
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y. J Med Genet. 2011 Sep;48(9):618-28. Epub 2011 Jun 9. PMID: 21659346 [PubMed – in process]
Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report.
Nair V, Das S, Sharma A, Sharma S, Kaur J, Mishra D. J Med Case Reports. 2011 Jun 4;5(1):216. PMID: 21639928 [PubMed]
[The congenital parcial erithroblastopenia–Diamond-Blackfan anemia.]
Kvazireli-Kopadze MA, Pagava KI, Korinteli IA. Georgian Med News. 2011 Apr;(193):81-5. Russian. PMID: 21617281 [PubMed – indexed for MEDLINE]
Dexamethasone and lenalidomide have distinct functional effects on erythropoiesis.
Narla A, Dutt S, McAuley JR, Al-Shahrour F, Hurst S, McConkey M, Neuberg D, Ebert BL. Blood. 2011 Aug 25;118(8):2296-304. Epub 2011 Apr 28. PMID: 21527522 [PubMed – in process]
The central core region of yeast ribosomal protein L11 is important for subunit joining and translational fidelity.
Rhodin MH, Rakauskaite R, Dinman JD. Mol Genet Genomics. 2011 Jun;285(6):505-16. Epub 2011 Apr 26. PMID: 21519857 [PubMed – indexed for MEDLINE]
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.
Burwick N, Shimamura A, Liu JM. Semin Hematol. 2011 Apr;48(2):136-43. Review. PMID: 21435510 [PubMed – in process]
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
Farrar JE, Dahl N. Semin Hematol. 2011 Apr;48(2):124-35. PMID: 21435509 [PubMed – in process]
Diamond Blackfan anemia treatment: past, present, and future.
Narla A, Vlachos A, Nathan DG. Semin Hematol. 2011 Apr;48(2):117-23. PMID: 21435508 [PubMed – in process]
Animal models of Diamond Blackfan anemia.
McGowan KA, Mason PJ. Semin Hematol. 2011 Apr;48(2):106-16. PMID: 21435507 [PubMed – in process]
Diamond Blackfan anemia: ribosomal proteins going rogue.
Ellis SR, Gleizes PE. Semin Hematol. 2011 Apr;48(2):89-96. PMID: 21435505 [PubMed – in process]
Modeling Diamond Blackfan anemia in the zebrafish.
Taylor AM, Zon LI. Semin Hematol. 2011 Apr;48(2):81-8. PMID: 21435504 [PubMed – in process]
Patient advocacy in Diamond Blackfan anemia: facilitating translational research and progress towards the cure of a rare disease.
Arturi MC. Semin Hematol. 2011 Apr;48(2):75-80. No abstract available. PMID: 21435503 [PubMed – in process]
Diamond Blackfan anemia and ribosome biogenesis: introduction.
Ebert B, Lipton JM. Semin Hematol. 2011 Apr;48(2):73-4. No abstract available. PMID: 21435502 [PubMed – in process]
Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.
Cmejla R, Ludikova B, Sukova M, Blatny J, Pospisilova D. Blood Cells Mol Dis. 2011 Apr 15;46(4):300-1. No abstract available. PMID: 21414820 [PubMed – indexed for MEDLINE]
5’UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.
Badhai J, Schuster J, Gidlöf O, Dahl N. PLoS One. 2011 Mar 11;6(3):e17672. PMID: 21412415 [PubMed – indexed for MEDLINE]
Drawing to a Diamond flush.
Ellis SR. Blood. 2011 Mar 3;117(9):2558-9. PMID: 21372157 [PubMed]
Quantification of myocardial iron deposition by two-dimensional speckle tracking in patients with {beta}-thalassaemia major and Blackfan-Diamond anaemia.
Garceau P, Nguyen ET, Carasso S, Ross H, Pendergrast J, Moravsky G, Bruchal-Garbicz B, Rakowski H. Heart. 2011 Mar;97(5):388-93. PMID: 21296782 [PubMed – in process]
Ribosome defects in disorders of erythropoiesis.
Narla A, Hurst SN, Ebert BL. Int J Hematol. 2011 Feb;93(2):144-9. Epub 2011 Feb 1.PMID: 21279816 [PubMed – in process]
Clinical utility gene card for: Diamond Blackfan anemia.
Vlachos A, Dahl N, Dianzani I, Lipton JM. Eur J Hum Genet. 2011 Jan 19. doi: 10.1038/ejhg.2010.247. [Epub ahead of print] No abstract available. PMID: 21248735 [PubMed – as supplied by publisher]
Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia.
Torihara H, Uechi T, Chakraborty A, Shinya M, Sakai N, Kenmochi N. Br J Haematol. 2011 Mar;152(5):648-54. doi: 10.1111/j.1365-2141.2010.08535.x. Epub 2011 Jan 12. PMID: 21223253 [PubMed – in process]
Congenital disorders of ribosome biogenesis and bone marrow failure.
Sakamoto KM, Shimamura A, Davies SM. Biol Blood Marrow Transplant. 2010 Jan;16(1 Suppl):S12-7. Epub 2009 Sep 19.PMID: 19770060 [PubMed – in process]
Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome.
Moore JB 4th, Farrar JE, Arceci RJ, Liu JM, Ellis SR. Haematologica. 2010 Jan;95(1):57-64. Epub 2009 Aug 27.PMID: 19713223 [PubMed – in process]
Comprehensive molecular structure of the eukaryotic ribosome.
Taylor DJ, Devkota B, Huang AD, Topf M, Narayanan E, Sali A, Harvey SC, Frank J. Structure. 2009 Dec 9;17(12):1591-604.PMID: 20004163 [PubMed – indexed for MEDLINE]
Pathogenesis of the erythroid failure in Diamond Blackfan anaemia.
Sieff CA, Yang J, Merida-Long LB, Lodish HF. Br J Haematol. 2009 Dec 1. [Epub ahead of print]PMID: 19958353 [PubMed – as supplied by publisher]
Severe iron overload in Blackfan-Diamond anemia: a case-control study.
Roggero S, Quarello P, Vinciguerra T, Longo F, Piga A, Ramenghi U. Am J Hematol. 2009 Nov;84(11):729-32.PMID: 19810012 [PubMed – indexed for MEDLINE]
Images. Bilateral total hip replacement in a teenager with Diamond Blackfan anemia.
Velez KA, Johnson T, Wennemer HK. PM R. 2009 Nov;1(11):1045-7. No abstract available. PMID: 19942193 [PubMed – indexed for MEDLINE]
Driving ribosome assembly.
Kressler D, Hurt E, Baβler J. Biochim Biophys Acta. 2009 Oct 30. [Epub ahead of print]PMID: 19879902 [PubMed – as supplied by publisher]
[Ribosomal protein in impaired erythropoiesis: Diamond-Blackfan anemia and 5q- syndrome]
Ito E. Rinsho Ketsueki. 2009 Oct;50(10):1539-47. Review. Japanese. No abstract available. PMID: 19915364 [PubMed – indexed for MEDLINE]
Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia.
Handler MZ, Alabi O, Miller J. J Craniofac Surg. 2009 Sep;20(5):1417-9.PMID: 19816270 [PubMed – indexed for MEDLINE]
Diamond-Blackfan Anemia.
Clinton C, Gazda HT. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
2009 Jun 25 [updated 2009 Nov 24].PMID: 20301769 [PubMed]
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U. Haematologica. 2009 Sep 22. [Epub ahead of print] PMID: 19773262 [PubMed – as supplied by publisher]
Congenital Disorders of Ribosome Biogenesis.
Sakamoto KM, Shimamura A, Davies S. Biol Blood Marrow Transplant. 2009 Sep 18. [Epub ahead of print] PMID: 19770060 [PubMed – as supplied by publisher]
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
Avondo F, Roncaglia P, Crescenzio N, Krmac H, Garelli E, Armiraglio M, Castagnoli C, Campagnoli MF, Ramenghi U, Gustincich S, Santoro C, Dianzani I. BMC Genomics. 2009 Sep 18;10(1):442. [Epub ahead of print] PMID: 19765279 [PubMed – as supplied by publisher]
Distinct ribosome maturation defects in yeast models of Diamond Blackfan anemia and Shwachman Diamond syndrome.
Moore JB 4th, Farrar JE, Arceci RJ, Liu JM, Ellis SR. Haematologica. 2009 Aug 27. [Epub ahead of print] PMID: 19713223 [PubMed – as supplied by publisher]
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N. Biochim Biophys Acta. 2009 Oct;1792(10):1036-42. Epub 2009 Aug 16. PMID: 19689926 [PubMed – in process]
Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.
Martinez Barrio A, Eriksson O, Badhai J, Fröjmark AS, Bongcam-Rudloff E, Dahl N, Schuster J. PLoS One. 2009 Jul 9;4(7):e6172. PMID: 19587786 [PubMed – in process]
Chronic lymphocytic leukemia-associated pure red cell aplasia.
D’Arena G, Cascavilla N. Int J Immunopathol Pharmacol. 2009 Apr-Jun;22(2):279-86. PMID: 19505381 [PubMed – indexed for MEDLINE]
Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.
Pavesi E, Avondo F, Aspesi A, Quarello P, Rocci A, Vimercati C, Pigullo S, Dufour C, Ramenghi U, Dianzani I. Pediatr Blood Cancer. 2009 Sep;53(3):411-6. PMID: 19489057 [PubMed – indexed for MEDLINE]
Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.
Badhai J, Fröjmark AS, Razzaghian HR, Davey E, Schuster J, Dahl N. FEBS Lett. 2009 Jun 18;583(12):2049-53. Epub 2009 May 18. PMID: 19454283 [PubMed – indexed for MEDLINE]
Transfusion independence in Diamond-Blackfan anemia after deferasirox therapy.
Taher AT, Musallam KM, Koussa S, Inati A. Ann Hematol. 2009 May 5. [Epub ahead of print] No abstract available. PMID: 19415275 [PubMed – as supplied by publisher]
Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.
Lipton JM, Ellis SR. Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82. Review. PMID: 19327583 [PubMed – indexed for MEDLINE]
Hematopoietic stem cell transplantation for bone marrow failure syndromes in children.
Myers KC, Davies SM. Biol Blood Marrow Transplant. 2009 Mar;15(3):279-92.PMID: 19203719 [PubMed – in process]
The evolving spectrum of ‘non-classical’ Diamond-Blackfan anaemia–a case of eADA positive pancytopenia in a young adult.
Anur P, Nemecek ER, Kurre P. Br J Haematol. 2009 May;145(3):428-30. Epub 2009 Feb 4. No abstract available. PMID: 19208100 [PubMed – indexed for MEDLINE]
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, Stary J, Cerna Z, Jabali Y, Pospisilova D. Hum Mutat. 2009 Feb 3. [Epub ahead of print] PMID: 19191325 [PubMed – as supplied by publisher]
Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia.
Kuze M, Matsubara H, Uji Y.Jpn J Ophthalmol. 2009 Jan-Feb;53(1):67-8. Epub 2009 Jan 30. No abstract available. PMID: 19184317 [PubMed – in process]
[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis.]
Aguissa-Touré AH, Da Costa L, Leblanc T, Tchernia G, Fribourg S, Gleizes PE.Med Sci (Paris). 2009 Jan;25(1):69-76. French. PMID: 19154697 [PubMed – as supplied by publisher]