Recent Research Publications

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 DiamondBlackfan 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 DiamondBlackfan 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  

DiamondBlackfan 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):356PMID: 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 by heat 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]