Recent Research Publications

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

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after 15 years of follow-up. Alter BP, Giri N, Savage SA, Rosenberg PS. Haematologica. 2017 Oct 19. pii: haematol.2017.178111. doi: 10.3324/haematol.2017.178111. [Epub ahead of print] PMID: 29051281

Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia. Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele MG, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y. Clin Genet. 2017 Oct 16. doi: 10.1111/cge.13158. [Epub ahead of print] PMID: 29044489

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient. Venugopal P, Moore S, Lawrence DM, George AJ, Hannan RD, Bray SC, Bik To L, D’Andrea RJ, Feng J, Tirimacco A, Yeoman AL, Young CC, Fine M, Schreiber AW, Hahn CN, Barnett C, Saxon B, Scott HS. Haematologica. 2017 Sep 29. pii: haematol.2017.166678. doi: 10.3324/haematol.2017.166678. [Epub ahead of print] No abstract available. PMID: 28971907

Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. Aspesi A, Monteleone V, Betti M, Actis C, Morleo G, Sculco M, Guarrera S, Wlodarski MW, Ramenghi U, Santoro C, Ellis SR, Loreni F, Follenzi A, Dianzani I. Sci Rep. 2017 Sep 20;7(1):12010. doi: 10.1038/s41598-017-12307-5. PMID: 28931864

Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia. Ogasawara T, Kawauchi K, Mori N, Sakura H, Katoh F, Kanno H, Ito E. Rinsho Ketsueki. 2017;58(8):917-921. doi: 10.11406/rinketsu.58.917. Japanese. PMID:28883274

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes. Giri N, Reed HD, Stratton P, Savage SA, Alter BP. Pediatr Blood Cancer. 2017 Aug 12. doi: 10.1002/pbc.26757. [Epub ahead of print] PMID:28801981

Rps26 directs mRNA-specific translation by recognition of Kozak sequence elements. Fer retti MB, Ghalei H, Ward EA, Potts EL, Karbstein K. Nat Struct Mol Biol. 2017 Jul 31. doi: 10.1038/nsmb.3442. [Epub ahead of print] PMID:28759050

Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione. Noguchi J, Kanno H, Chiba Y, Ito E, Ishiguro A. Pediatr Int. 2017 Jul;59(7):838-840. doi: 10.1111/ped.13284. No abstract available. PMID:28745457

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. Carlston CM, Afify ZA, Palumbos JC, Bagley H, Barbagelata C, Wooderchak-Donahue WL, Mao R, Carey JC. Am J Med Genet A. 2017 Jul 25. doi: 10.1002/ajmg.a.38360. [Epub ahead of print] PMID:28742285

Iron overload directly affecting the ovaries in a patient with Diamond-Blackfan anaemia: a case report. Mascarenhas M, Rawnsley V, Balen A. Hum Fertil (Camb). 2017 Jun 23:1-5. doi: 10.1080/14647273.2017.1342875. [Epub ahead of print] PMID:28643569

Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. Savage SA, Dufour C. Semin Hematol. 2017 Apr;54(2):105-114. doi: 10.1053/j.seminhematol.2017.04.004. Epub 2017 Apr 7. Review. PMID:28637614

Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes. Li Q, Luo C, Luo C, Wang J, Li B, Ding L, Chen J. Ann Hematol. 2017 Aug;96(8):1389-1397. doi: 10.1007/s00277-017-3041-7. Epub 2017 Jun 16. PMID:28623394

Confounding in <i>ex vivo</i> models of Diamond-Blackfan anemia. Ulirsch JC, Lareau C, Ludwig LS, Mohandas N, Nathan DG, Sankaran VG. Blood. 2017 Jun 14. pii: blood-2017-05-783191. doi: 10.1182/blood-2017-05-783191. [Epub ahead of print] No abstract available. PMID:28615220

Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders. Burroughs LM, Shimamura A, Talano JA, Domm JA, Baker KK, Delaney C, Frangoul H, Margolis DA, Baker KS, Nemecek ER, Geddis AE, Sandmaier BM, Deeg HJ, Storb R, Woolfrey AE. Biol Blood Marrow Transplant. 2017 Jun 7. pii: S1083-8791(17)30511-6. doi: 10.1016/j.bbmt.2017.06.002. [Epub ahead of print] PMID:28602958

Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition? Fadus MC, Rush ET, Lettieri CK. Clin Case Rep. 2017 Apr 4;5(6):748-752. doi: 10.1002/ccr3.931. eCollection 2017 Jun. PMID:28588803

GATA Transcription Factors: Basic Principles and Related Human Disorders.
Fujiwara T. Tohoku J Exp Med. 2017 Jun;242(2):83-91. doi: 10.1620/tjem.242.83.PMID:28566565

Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT. Dietz AC, Savage SA, Vlachos A, Mehta PA, Bresters D, Tolar J, Bonfim C, Dalle JH, de la Fuente J, Skinner R, Boulad F, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP. Biol Blood Marrow Transplant. 2017 May 19. pii: S1083-8791(17)30469-X. doi:10.1016/j.bbmt.2017.05.022. [Epub ahead of print] Review. PMID:28533057

Bone mineral density in patients with inherited bone marrow failure syndromes. Shankar RK, Giri N, Lodish MB, Sinaii N, Reynolds JC, Savage SA, Stratakis CA, Alter BP. Pediatr Res. 2017 May 31. doi: 10.1038/pr.2017.117. [Epub ahead of print] PMID:28486441

Mid-life extra-haematopoetic manifestations of Diamond-Blackfan anaemia. Muir C, Dodds A, Samaras K. Endocrinol Diabetes Metab Case Rep. 2017 Apr 19;2017. pii: 16-0141. doi: 10.1530/EDM-16-0141. eCollection 2017. PMID:28469922

Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia. Debnath S, Jaako P, Siva K, Rothe M, Chen J, Dahl M, Gaspar HB, Flygare J, Schambach A, Karlsson S. Mol Ther. 2017 Aug 2;25(8):1805-1814. doi: 10.1016/j.ymthe.2017.04.002. Epub 2017 Apr 20. PMID:28434866

Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. Alkhunaizi E, Schrewe B, Alizadehfar R, Vézina C, Stewart GS, Braverman N. Am J Med Genet A. 2017 Jun;173(6):1514-1520. doi: 10.1002/ajmg.a.38208. Epub 2017 Apr 21. PMID:28432740

Molecular convergence in ex vivo models of Diamond-Blackfan anemia. O’Brien KA, Farrar JE, Vlachos A, Anderson SM, Tsujiura CA, Lichtenberg J, Blanc L, Atsidaftos E, Elkahloun A, An X, Ellis SR, Lipton JM, Bodine DM. Blood. 2017 Jun 8;129(23):3111-3120. doi: 10.1182/blood-2017-01-760462. Epub 2017 Apr 4. PMID:28377399

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations. Errichiello E, Vetro A, Mina T, Wischmeijer A, Berrino E, Carella M, Romagnoli M, Sacchini P, Venesio T, Zecca M, Zuffardi O. Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6. PMID:28376382

Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Kim AR, Ulirsch JC, Wilmes S, Unal E, Moraga I, Karakukcu M, Yuan D, Kazerounian S, Abdulhay NJ, King DS, Gupta N, Gabriel SB, Lander ES, Patiroglu T, Ozcan A, Ozdemir MA, Garcia KC, Piehler J, Gazda HT, Klein DE, Sankaran VG. Cell. 2017 Mar 9;168(6):1053-1064.e15. doi: 10.1016/j.cell.2017.02.026. PMID:28283061

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA. J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9. PMID:28280134

The genomics of inherited bone marrow failure: from mechanism to the clinic. Wegman-Ostrosky T, Savage SA. Br J Haematol. 2017 May;177(4):526-542. doi: 10.1111/bjh.14535. Epub 2017 Feb 17. Review. PMID:28211564

[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia]. He X, Xu ZL. Zhongguo Dang Dai Er Ke Za Zhi. 2017 Feb;19(2):171-175. Chinese. PMID:28202115

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, Humphries JM, DeVine A, Narla A, Alter BP, Beggs AH, Agarwal S, Ebert BL, Gazda HT, Lodish HF, Sieff CA, Schlaeger TM, Zon LI, Daley GQ. Sci Transl Med. 2017 Feb 8;9(376). pii: eaah5645. doi: 10.1126/scitranslmed.aah5645.PMID:28179501

GATA factor mutations in hematologic disease. Crispino JD, Horwitz MS. Blood. 2017 Apr 13;129(15):2103-2110. doi: 10.1182/blood-2016-09-687889. Epub 2017 Feb 8. Review.PMID:28179280

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation. Dietz AC, Mehta PA, Vlachos A, Savage SA, Bresters D, Tolar J, Boulad F, Dalle JH, Bonfim C, de la Fuente J, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP. Biol Blood Marrow Transplant. 2017 May;23(5):726-735. doi: 10.1016/j.bbmt.2017.01.075. Epub 2017 Jan 20. Review. PMID:28115275

Transcriptome Profiling Identifies Ribosome Biogenesis as a Target of Alcohol Teratogenicity and Vulnerability during Early Embryogenesis. Berres ME, Garic A, Flentke GR, Smith SM. PLoS One. 2017 Jan 3;12(1):e0169351. doi: 10.1371/journal.pone.0169351. eCollection 2017. PMID:28046103

[Disorders of Ribosomal Proteins and Related Hematologic Diseases -Review]. Qi YK, Wu LY. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2016 Dec;24(6):1892-1896. doi: 10.7534/j.issn.1009-2137.2016.06.051. Chinese. PMID:28024515

Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia. Crazzolara R, Kropshofer G, Haas OA, Matthes-Martin S, Kager L. Haematologica. 2017 Mar;102(3):e73-e75. doi: 10.3324/haematol.2016.157149. Epub 2016 Dec 7. No abstract available. PMID:27927765

Pure red cell aplasia. Means RT Jr. Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):51-56. Review. PMID:27913462

Exome sequencing identified <i>RPS15A</i> as a novel causative gene for Diamond-Blackfan anemia. Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E. Haematologica. 2017 Mar;102(3):e93-e96. doi: 10.3324/haematol.2016.153932. Epub 2016 Dec 1. No abstract available. PMID:27909223

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. Ichimura T, Yoshida K, Okuno Y, Yujiri T, Nagai K, Nishi M, Shiraishi Y, Ueno H, Toki T, Chiba K, Tanaka H, Muramatsu H, Hara T, Kanno H, Kojima S, Miyano S, Ito E, Ogawa S, Ohga S. Int J Hematol. 2017 Apr;105(4):515-520. doi: 10.1007/s12185-016-2151-7. Epub 2016 Nov 23. PMID: 27882484

Pure red cell aplasia. Means RT Jr. Blood. 2016 Nov 24;128(21):2504-2509. Review. PMID:27881371

Iron Overload and Platelet Function Defects: Possible Correlation. Dahi AA, Hanafy E, Al Pakra M. J Investig Med High Impact Case Rep. 2016 Oct 26;4(4):2324709616675645. eCollection 2016 Oct-Dec. PMID:27826594

Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis. Robson A, Owens ND, Baserga SJ, Khokha MK, Griffin JN. BMC Dev Biol. 2016 Oct 26;16(1):38. PMID:27784267

Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers. Sornjai W, Lithanatudom P, Erales J, Joly P, Francina A, Hacot S, Fucharoen S, Svasti S, Diaz JJ, Mertani HC, Smith DR. Int J Biol Macromol. 2017 Jan;94(Pt A):728-734. doi: 10.1016/j.ijbiomac.2016.10.039. Epub 2016 Oct 17. PMID:27765567

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. Kalejaiye A, Giri N, Brewer CC, Zalewski CK, King KA, Adams CD, Rosenberg PS, Kim HJ, Alter BP. Pediatr Blood Cancer. 2016 Dec;63(12):2139-2145. doi: 10.1002/pbc.26155. PMID: 27428025

Iron Overload and Platelet Function Defects: Possible Correlation. Dahi AA, Hanafy E, Al Pakra M. J Investig Med High Impact Case Rep. 2016 Oct 26;4(4):2324709616675645.PMID: 27826594

Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis. Robson A, Owens ND, Baserga SJ, Khokha MK, Griffin JN. BMC Dev Biol. 2016 Oct 26;16(1):38. PMID: 27784267

Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers. Sornjai W, Lithanatudom P, Erales J, Joly P, Francina A, Hacot S, Fucharoen S, Svasti S, Diaz JJ, Mertani HC, Smith DR. Int J Biol Macromol. 2016 Oct 17. pii: S0141-8130(16)31101-1. doi: 0.1016/j.ijbiomac.2016.10.039. [Epub ahead of print] PMID: 27765567

Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis. Juli G, Gismondi A, Monteleone V, Caldarola S, Iadevaia V, Aspesi A, Dianzani I, Proud CG, Loreni F. Sci Rep. 2016 Oct 13;6:35026. doi: 10.1038/srep35026. PMID: 27734913

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with Diamond Blackfan Anemia as a young adult. Narla A, Yuan D, Kazerounian S, LaVasseur C, Ulirsch JC, Narla J, Glader B, Sankaran VG, Gazda H. Blood Cells Mol Dis. 2016 Oct;61:46-7. doi: 10.1016/j.bcmd.2016.08.001. No abstract available. PMID: 27667165

Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. Wan Y, Chen X, An W, Ruan M, Zhang J, Chang L, Zhang R, Zhu S, Zhang Y, Yang W, Guo Y, Yuan W, Zou Y, Chen Y, Zhu X. Int J Hematol. 2016 Oct;104(4):430-9. doi: 10.1007/s12185-016-2044-9. PMID: 27329125

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. J Pediatr Hematol Oncol. 2016 Oct;38(7):e260-2. doi: 10.1097/MPH.0000000000000587. PMID: 27258031

Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. Ozono S, Mitsuo M, Noguchi M, Nakagawa S, Ueda K, Inada H, Ohga S, Ito E. Pediatr Int. 2016 Sep;58(9):930-3. doi: 10.1111/ped.13018. PMID: 27601194

A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. Zhang JY, Jia M, Zhao HZ, Luo ZB, Xu WQ, Shen HP, Tang YM. Blood Cells Mol Dis. 2016 Aug 31;62:1-5. doi: 10.1016/j.bcmd.2016.08.003. [Epub ahead of print] PMID: 27732904

Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia. Kubik-Zahorodna A, Schuster B, Kanchev I, Sedláček R. Folia Biol (Praha). 2016;62(4):139-47. PMID: 27643579

Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. Narla A, Davis NL, Lavasseur C, Wong C, Glader B. Am J Hematol. 2016 Aug 24. doi: 10.1002/ajh.24541. [Epub ahead of print] No abstract available. PMID: 27556864

Towards RNA Repair of Diamond-Blackfan Anemia Hematopoietic Stem Cells. D’Allard D, Liu J. Hum Gene Ther. 2016 Aug 22. [Epub ahead of print] PMID: 27550323

A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies. Yuan H, Meng Z, Liu L, Deng X, Hu X, Liang L. Mol Cytogenet. 2016 Aug 2;9:58. doi: 10.1186/s13039-016-0268-2. PMID: 27486481

Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis. Papneja K, Bhatt MD, Kirby-Allen M, Arora S, Wiernikowski JT, Athale UH. Pediatr Blood Cancer. 2016 Aug;63(8):1480-3. doi: 10.1002/pbc.25995. PMID:27082377

Recent advances in inherited bone marrow failure syndrome research. Ito E, Toki T, Terui K. Rinsho Ketsueki. 2016 Jul;57(7):882-90. doi: 10.11406/rinketsu.57.882. PMID: 27498735

The role of ribosomal proteins in the regulation of cell proliferation, tumorigenesis, and genomic integrity. Xu X, Xiong X, Sun Y. Sci China Life Sci. 2016 Jul;59(7):656-72. doi: 10.1007/s11427-016-0018-0. Review. PMID: 27294833

Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. Utsugisawa T, Uchiyama T, Toki T, Ogura H, Aoki T, Hamaguchi I, Ishiguro A, Ohara A, Kojima S, Ohga S, Ito E, Kanno H. Blood Cells Mol Dis. 2016 Jul;59:31-6. doi: 10.1016/j.bcmd.2016.03.007. PMID:27282564

A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia. Jiang H, Wu MY, Li DZ. Indian J Hematol Blood Transfus. 2016 Jun;32(Suppl 1):233-4. doi: 10.1007/s12288-015-0524-3. No abstract available. PMID: 27408399

The Stomatological Complications of Diamond-Blackfan Anemia: A Case Report. Gomes RF, Munerato MC. Clin Med Res. 2016 Jun;14(2):97-102. doi: 10.3121/cmr.2015.1305. PMID: 26864506

Diamond-Blackfan Anemia. Clinton C, Gazda HT.In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 2009 Jun 25 [updated 2016 Apr 7]. PMID: 20301769

Hereditary Predispositions to Myelodysplastic Syndrome. Bannon SA, DiNardo CD. Int J Mol Sci. 2016 May 30;17(6). pii: E838. doi: 10.3390/ijms17060838. Review. PMID: 27248996

[Laparoscopic Nephrectomy in Infant with Diamond Blackfan Syndrome]. Matsui H, Suzuki K, Kato K, Hattori R. Hinyokika Kiyo. 2016 Apr;62(4):193-6. Japanese. PMID: 27217013

Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. Yang Z, Keel SB, Shimamura A, Liu L, Gerds AT, Li HY, Wood BL, Scott BL, Abkowitz JL. Sci Transl Med. 2016 May 11;8(338):338ra67. doi: 10.1126/scitranslmed.aaf3006. PMID: 27169803

Use of n-of-1 (single patient) trials to assess the effect of age of transfused blood on health-related quality of life in transfusion-dependent patients. Hsia CC, Mahon JL, Seitelbach M, Chia J, Zou G, Chin-Yee IH. Transfusion. 2016 May;56(5):1192-200. doi: 10.1111/trf.13484.PMID: 26840915

Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG. Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4434-9. doi: 10.1073/pnas.1521754113. PMID: 27044088

Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop a Defect in Erythropoiesis. Kamio T, Gu BW, Olson TS, Zhang Y, Mason PJ, Bessler M. PLoS One. 2016 Apr 4;11(4):e0152263. doi: 10.1371/journal.pone.0152263. PMID: 27042854

Role of ribosomal protein mutations in tumor development (Review). Goudarzi KM, Lindström MS. Int J Oncol. 2016 Apr;48(4):1313-24. doi: 10.3892/ijo.2016.3387. PMID: 26892688

Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. Dalle JH, Peffault de Latour R. Int J Hematol. 2016 Apr;103(4):373-9. doi: 10.1007/s12185-016-1951-0. Review. PMID: 26872907

Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia. Wan Y, Zhang Q, Zhang Z, Song B, Wang X, Zhang Y, Jia Q, Cheng T, Zhu X, Leung AY, Yuan W, Jia H, Fang X. BMC Med Genomics. 2016 Mar 9;9:13. doi: 10.1186/s12920-016-0174-9. PMID: 26961822

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia. Quarello P, Garelli E, Carando A, Mancini C, Foglia L, Botto C, Farruggia P, De Keersmaecker K, Aspesi A, Ellis SR, Dianzani I, Ramenghi U. Br J Haematol. 2016 Mar;172(5):782-5. doi: 10.1111/bjh.13880. PMID: 26763766

[Inherited bone marrow failure syndromes]. Okuno Y. Rinsho Ketsueki. 2016 Feb;57(2):98-103. doi: 10.11406/rinketsu.57.98. Review. Japanese. PMID: 26935625

Neonatal manifestations of inherited bone marrow failure syndromes. Khincha PP, Savage SA.  Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Review. PMID: 26724991

Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A. Pediatr Blood Cancer. 2016 Feb;63(2):306-12. doi: 10.1002/pbc.25780. PMID: 26496000

Differential expression of ribosomal proteins in myelodysplastic syndromes. Rinker EB, Dueber JC, Qualtieri J, Tedesco J, Erdogan B, Bosompem A, Kim AS. J Clin Pathol. 2016 Feb;69(2):176-80. doi: 10.1136/jclinpath-2015-203093. PMID: 26408650

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.  Kazerounian S, Ciarlini PD, Yuan D, Ghazvinian R, Alberich-Jorda M, Joshi M, Zhang H, Beggs AH, Gazda HT. J Cancer. 2016 Jan 1;7(1):32-6. doi: 10.7150/jca.13292. PMID: 26722357

ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. Ikeda F, Toki T, Kanezaki R, Terui K, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Ogawa S, Ito E. Int J Hematol. 2016 Jan;103(1):112-4. doi: 10.1007/s12185-015-1891-0. No abstract available. PMID: 26608366

[Molecular diagnosis and hematopoietic stem cell transplantation in 17 children with inherited bone marrow failure syndrome]. Li Q, Li B, Luo C, Wang J, Luo C, Ding L, Chen J. Zhonghua Er Ke Za Zhi. 2015 Nov;53(11):817-23. Chinese. PMID: 26758319

Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes. Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Tuy FP, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA. PLoS Genet. 2015 Nov 19;11(11):e1005682. doi: 10.1371/journal.pgen.1005682. No abstract available. PMID: 26584186

Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A. Pediatr Blood Cancer. 2015 Oct 23. doi: 10.1002/pbc.25780. [Epub ahead of print] PMID: 26496000

Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis. Morgado-Palacin L, Varetti G, Llanos S, Gómez-López G, Martinez D, Serrano M. Cell Rep. 2015 Oct 27;13(4):712-22. doi: 10.1016/j.celrep.2015.09.038. Epub 2015 Oct 17. PMID: 26489471

Transcriptome analysis of Rpl11-deficient zebrafish model of Diamond-Blackfan Anemia. Zhang Z, Jia H, Zhang Q, Wan Y, Song B, Jia Q, Liu H, Zhu X, Fang X. Genom Data. 2014 Jun 17;2:173-5. doi: 10.1016/j.gdata.2014.06.008. eCollection 2014 Dec. PMID: 26484089

In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature. Pesciotta EN, Lam HS, Kossenkov A, Ge J, Showe LC, Mason PJ, Bessler M, Speicher DW. PLoS One. 2015 Oct 16;10(10):e0140036. doi: 10.1371/journal.pone.0140036. eCollection 2015. PMID: 26474164

[Diagnosis and management of inherited bone marrow failure syndrome]. Yabe M, Yabe H. Rinsho Ketsueki. 2015 Oct;56(10):1914-21. doi: 10.11406/rinketsu.56.1914. Japanese. PMID: 26458429

GATA1 and PU.1 Bind to Ribosomal Protein Genes in Erythroid Cells: Implications for Ribosomopathies. Amanatiadou EP, Papadopoulos GL, Strouboulis J, Vizirianakis IS. PLoS One. 2015 Oct 8;10(10):e0140077. doi: 10.1371/journal.pone.0140077. eCollection 2015. PMID: 26447946

Differential expression of ribosomal proteins in myelodysplastic syndromes. Rinker EB, Dueber JC, Qualtieri J, Tedesco J, Erdogan B, Bosompem A, Kim AS. J Clin Pathol. 2015 Sep 25. pii: jclinpath-2015-203093. doi: 10.1136/jclinpath-2015-203093. [Epub ahead of print]  PMID: 26408650

Anemia as the Main Manifestation of Myelodysplastic Syndromes. Santini V. Semin Hematol. 2015 Oct;52(4):348-56. doi: 10.1053/j.seminhematol.2015.06.002. Epub 2015 Jun 30. Review. PMID: 26404446

Ribosomopathies: how a common root can cause a tree of pathologies. Danilova N, Gazda HT. Dis Model Mech. 2015 Sep 1;8(9):1013-26. doi: 10.1242/dmm.020529. Review. PMID: 26398160

Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy. Macrì S, Pavesi E, Crescitelli R, Aspesi A, Vizziello C, Botto C, Corti P, Quarello P, Notari P, Ramenghi U, Ellis SR, Dianzani I. PLoS One. 2015 Sep 22;10(9):e0138200. doi: 10.1371/journal.pone.0138200. eCollection 2015. PMID: 26394034

Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia. Sjögren SE, Siva K, Soneji S, George AJ, Winkler M, Jaako P, Wlodarski M, Karlsson S, Hannan RD, Flygare J. Br J Haematol. 2015 Nov;171(4):517-29. doi: 10.1111/bjh.13632. Epub 2015 Aug 25. PMID: 26305041

Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia. Ge J, Apicella M, Mills JA, Garçon L, French DL, Weiss MJ, Bessler M, Mason PJ. PLoS One. 2015 Aug 10;10(8):e0134878. doi: 10.1371/journal.pone.0134878. eCollection 2015. PMID: 26258650

[Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia]. Toki T, Ito E. Rinsho Ketsueki. 2015 Jul;56(7):867-76. doi: 10.11406/rinketsu.56.867. Japanese. MID:26251151

Diamond-Blackfan Anemia: Death by Heme Toxicity? Elghetany MT. Eur J Haematol. 2015 Aug 1. doi: 10.1111/ejh.12643. [Epub ahead of print] PMID: 26235290

Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report. Matsuda I, Tsuchida YA, Toyoshima F, Tozawa K, Ikehara H, Ohda Y, Hori K, Ohtsuka Y, Watari J, Miwa H, Hirota S. Int J Clin Exp Pathol. 2015 May 1;8(5):5938-43. eCollection 2015. PMID: 26191323

Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare. Flores Ballester E, Gil-Fernández JJ, Vázquez Blanco M, Mesa JM, de Dios García J, Tamayo AT, Burgaleta C. Clin Case Rep. 2015 Jun;3(6):392-5. doi: 10.1002/ccr3.240. Epub 2015 Apr 9. PMID: 26185635

RPS24 knockdown inhibits colorectal cancer cell migration and proliferation in vitro. Wang Y, Sui J, Li X, Cao F, He J, Yang B, Zhu X, Sun Y, Pu YD. Gene. 2015 Oct 25;571(2):286-91. doi: 10.1016/j.gene.2015.06.084. Epub 2015 Jul 3. PMID: 26149657

Mutation of kri1l causes definitive hematopoiesis failure via PERK-dependent excessive autophagy induction. Jia XE, Ma K, Xu T, Gao L, Wu S, Fu C, Zhang W, Wang Z, Liu K, Dong M, Jing C, Ren C, Dong Z, Chen Y, Jin Y, Huang Q, Chang X, Deng M, Li L, Luo L, Zhu J, Dang Y, Chang HC, Zon LI, Zhou Y, Chen S, Pan W. Cell Res. 2015 Aug;25(8):946-62. doi: 10.1038/cr.2015.81. Epub 2015 Jul 3. PMID: 26138676

Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway. Antunes AT, Goos YJ, Pereboom TC, Hermkens D, Wlodarski MW, Da Costa L, MacInnes AW. PLoS Genet. 2015 Jul 1;11(7):e1005326. doi: 10.1371/journal.pgen.1005326. eCollection 2015 Jul. PMID: 26132763

RAP-011 improves erythropoiesis in zebrafish model of Diamond-Blackfan anemia through antagonizing lefty1. Ear J, Huang H, Wilson T, Tehrani Z, Lindgren A, Sung V, Laadem A, Daniel TO, Chopra R, Lin S. Blood. 2015 Aug 13;126(7):880-90. doi: 10.1182/blood-2015-01-622522. Epub 2015 Jun 24. PMID: 26109203

Successful use of reduced-intensity conditioning and matched-unrelated hematopoietic stem cell transplant in a child with Diamond-Blackfan anemia and cirrhosis.
Asquith JM, Copacia J, Mogul MJ, Bajwa RP. Pediatr Transplant. 2015 Sep;19(6):E157-9. doi: 10.1111/petr.12547. Epub 2015 Jun 23. PMID: 26103586

Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia. Mercurio S, Aspesi A, Silengo L, Altruda F, Dianzani I, Chiabrando D. Eur J Haematol. 2015 Jun 8. doi: 10.1111/ejh.12599. [Epub ahead of print] PMID:26058344

Bilateral heel pain in a patient with Diamond-Blackfan anaemia. Charles LT, Mehdi AM, Baker D, Edwards MR. Foot (Edinb). 2015 Jun;25(2):110-3. doi: 10.1016/j.foot.2015.03.002. Epub 2015 Mar 9. PMID: 26004126

Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia. Jaako P, Debnath S, Olsson K, Zhang Y, Flygare J, Lindström MS, Bryder D, Karlsson S. Leukemia. 2015 Nov;29(11):2221-9. doi: 10.1038/leu.2015.128. Epub 2015 May 19. PMID: 25987256

PPAR-α and glucocorticoid receptor synergize to promote erythroid progenitor self-renewal. Lee HY, Gao X, Barrasa MI, Li H, Elmes RR, Peters LL, Lodish HF. Nature. 2015 May 11. doi: 10.1038/nature14326. [Epub ahead of print] PMID: 25970251

Immune status of patients with inherited bone marrow failure syndromes. Giri N, Alter BP, Penrose K, Falk RT, Pan Y, Savage SA, Williams M, Kemp TJ, Pinto LA. Am J Hematol. 2015 May 12. doi: 10.1002/ajh.24046. [Epub ahead of print] PMID: 25963299

Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. Smetanina NS, Mersiyanova IV, Kurnikova MA, Ovsyannikova GS, Hachatryan LA, Bobrynina VO, Maschan MA, Novichkova GA, Lipton JM, Maschan AA. Pediatr Blood Cancer. 2015 May 6. doi: 10.1002/pbc.25534. [Epub ahead of print] PMID: 25946618

Identification and Fine Mapping of Nuclear and Nucleolar Localization Signals within the Human Ribosomal Protein S17. Kenney SP, Meng XJ. PLoS One. 2015 Apr 8;10(4):e0124396. doi: 10.1371/journal.pone.0124396. eCollection 2015. PMID: 25853866

Elucidation of the EP defect in Diamond-Blackfan anemia by characterization and prospective isolation of human EPs. Iskander D, Psaila B, Gerrard G, Chaidos A, En Foong H, Harrington Y, Karnik LC, Roberts I, de la Fuente J, Karadimitris A. Blood. 2015 Apr 16;125(16):2553-7. doi: 10.1182/blood-2014-10-608042. Epub 2015 Mar 9. PMID: 25755292

Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H, Christodoulou J. Clin Genet. 2015 Feb 20. doi: 10.1111/cge.12573. [Epub ahead of print] PMID: 25703294

Global transcriptome and chromatin occupancy analysis reveal the short isoform of GATA1 is deficient for erythroid specification and gene expression. Chlon TM, McNulty M, Goldenson B, Rosinski A, Crispino JD. Haematologica. 2015 May;100(5):575-84. doi: 10.3324/haematol.2014.112714. Epub 2015 Feb 14. PMID: 25682601

Association between donor leukocyte telomere length and survival after unrelated allogeneic hematopoietic cell transplantation for severe aplastic anemia. Gadalla SM, Wang T, Haagenson M, Spellman SR, Lee SJ, Williams KM, Wong JY, De Vivo I, Savage SA. JAMA. 2015 Feb 10;313(6):594-602. doi: 10.1001/jama.2015.7. PMID: 25668263

Genetic predisposition syndromes: when should they be considered in the work-up of MDS? Babushok DV, Bessler M. Best Pract Res Clin Haematol. 2015 Mar;28(1):55-68. doi: 10.1016/j.beha.2014.11.004. Epub 2014 Nov 12. Review. PMID: 25659730

Growth hormone improves short stature in children with Diamond-Blackfan anemia. Howell JC, Joshi SA, Hornung L, Khoury J, Harris RE, Rose SR. Pediatr Blood Cancer. 2015 Mar;62(3):402-8. doi: 10.1002/pbc.25341. Epub 2014 Dec 9. PMID: 25492299

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, Goi K, Matsubara K, Koike K, Ishiguro A, Okamoto Y, Watanabe K, Kanno H, Kojima S, Miyano S, Kenmochi N, Ogawa S, Ito E. Br J Haematol. 2015 Mar;168(6):854-64. doi: 10.1111/bjh.13229. Epub 2014 Nov 25. PMID: 25424902

Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes. Sklavos MM, Stratton P, Giri N, Alter BP, Savage SA, Pinto LA. J Clin Endocrinol Metab. 2015 Feb;100(2):E197-203. doi: 10.1210/jc.2014-2838. Epub 2014 Nov 18. PMID: 25405500

Bmi1 promotes erythroid development through regulating ribosome biogenesis. Gao R, Chen S, Kobayashi M, Yu H, Zhang Y, Wan Y, Young SK, Soltis A, Yu M, Vemula S, Fraenkel E, Cantor A, Antipin Y, Xu Y, Yoder MC, Wek RC, Ellis SR, Kapur R, Zhu X, Liu Y. Stem Cells. 2015 Mar;33(3):925-38. doi: 10.1002/stem.1896. PMID: 25385494

Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. Hamilton JG, Hutson SP, Frohnmayer AE, Han PK, Peters JA, Carr AG, Alter BP. J Genet Couns. 2014 Dec 27. [Epub ahead of print] PMID: 25540896

Ribosomopathies: mechanisms of disease. Nakhoul H, Ke J, Zhou X, Liao W, Zeng SX, Lu H. Clin Med Insights Blood Disord. 2014 Aug 14;7:7-16. doi: 10.4137/CMBD.S16952. eCollection 2014. Review. PMID: 25512719

Ribosomal stress activates eEF2K-eEF2 pathway causing translation elongation inhibition and recruitment of terminal oligopyrimidine (TOP) mRNAs on polysomes. Gismondi A, Caldarola S, Lisi G, Juli G, Chellini L, Iadevaia V, Proud CG, Loreni F. Nucleic Acids Res. 2014 Nov 10;42(20):12668-80. doi: 10.1093/nar/gku996. Epub 2014 Oct 20. PMID: 25332393

Telomere length in inherited bone marrow failure syndromes. Alter BP, Giri N, Savage SA, Rosenberg PS. Haematologica. 2015 Jan;100(1):49-54. doi: 10.3324/haematol.2014.114389. Epub 2014 Oct 10. PMID: 2530461

TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors. Bibikova E, Youn MY, Danilova N, Ono-Uruga Y, Konto-Ghiorghi Y, Ochoa R, Narla A, Glader B, Lin S, Sakamoto KM. Blood. 2014 Dec 11;124(25):3791-8. doi: 10.1182/blood-2014-06-584656. Epub 2014 Sep 30. PMID: 25270909

Mapping iron in human heart tissue with synchrotron x-ray fluorescence microscopy and cardiovascular magnetic resonance. House MJ, Fleming AJ, de Jonge MD, Paterson D, Howard DL, Carpenter JP, Pennell DJ, St Pierre TG. J Cardiovasc Magn Reson. 2014 Sep 27;16:80. doi: 10.1186/s12968-014-0080-2. PMID: 25270330

Meeting the emerging public health needs of persons with blood disorders. Parker CS, Tsai J, Siddiqi AE, Atrash HK, Richardson LC. Am J Prev Med. 2014 Nov;47(5):658-63. doi: 10.1016/j.amepre. 2014.07.008. Epub 2014 Sep 19. PMID: 25245797

Marrow failure: a window into ribosome biology. Ruggero D, Shimamura A. Blood. 2014 Oct 30;124(18):2784-92. doi: 10.1182/blood-2014-04-526301. Epub 2014 Sep 18. Review.  PMID: 25237201

RAP-011, an activin receptor ligand trap, increases hemoglobin concentration in hepcidin transgenic mice. Langdon JM, Barkataki S, Berger AE, Cheadle C, Xue QL, Sung V, Roy CN. Am J Hematol. 2015 Jan;90(1):8-14. doi: 10.1002/ajh.23856. Epub 2014 Oct 25. PMID: 25236856

Pancreatic iron and fat assessment by MRI-R2* in patients with iron overload diseases. Pfeifer CD, Schoennagel BP, Grosse R, Wang ZJ, Graessner J, Nielsen P, Adam G, Fischer R, Yamamura J. J Magn Reson Imaging. 2014 Sep 19. doi: 10.1002/jmri.24752. [Epub ahead of print] PMID: 25236606

Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia. Jaako P, Debnath S, Olsson K, Modlich U, Rothe M, Schambach A, Flygare J, Karlsson S. Haematologica. 2014 Dec;99(12):1792-8. doi: 10.3324/haematol.2014.111195. Epub 2014 Sep 12. PMID: 25216681

Current insights into inherited bone marrow failure syndromes. Chung NG, Kim M. Korean J Pediatr. 2014 Aug;57(8):337-44. doi: 10.3345/kjp.2014.57.8.337. Epub 2014 Aug 25. Review. PMID: 25210520

Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients. Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer C, Vichinsky E. Br J Haematol. 2014 Dec;167(5):692-6. doi: 10.1111/bjh.13081. Epub 2014 Sep 11. PMID: 25209728

Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency. Song B, Zhang Q, Zhang Z, Wan Y, Jia Q, Wang X, Zhu X, Leung AY, Cheng T, Fang X, Yuan W, Jia H. BMC Genomics. 2014 Sep 4;15:759. doi: 10.1186/1471-2164-15-759. PMID: 25189322

A RanGTP-independent mechanism allows ribosomal protein nuclear import for ribosome assembly. Schütz S, Fischer U, Altvater M, Nerurkar P, Peña C, Gerber M, Chang Y, Caesar S, Schubert OT, Schlenstedt G, Panse VG. Elife. 2014 Aug 21;3:e03473. doi: 10.7554/eLife.03473. PMID: 25144938

Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients withDiamond Blackfan Anemia. Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, Kossiva L, Kostaridou S, Kattamis A. Pediatr Blood Cancer. 2014 Dec;61(12):2249-55. doi: 10.1002/pbc.25183. Epub 2014 Aug 17. PMID: 25132370

L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way. Narla A, Payne EM, Abayasekara N, Hurst SN, Raiser DM, Look AT, Berliner N, Ebert BL, Khanna-Gupta A. Br J Haematol. 2014 Nov;167(4):524-8. doi: 10.1111/bjh.13069. Epub 2014 Aug 7. PMID: 25098371

Analysis of the interactome of ribosomal protein S19 mutants. Caterino M, Aspesi A, Pavesi E, Imperlini E, Pagnozzi D, Ingenito L, Santoro C, Dianzani I, Ruoppolo M.Proteomics. 2014 Oct;14(20):2286-96. doi: 10.1002/pmic.201300513. Epub 2014 Sep 18. PMID: 25069755

Successful haematopoietic stem cell transplantation in 44 children from healthy siblings conceived after preimplantation HLA matching. Kahraman S, Beyazyurek C, Yesilipek MA, Ozturk G, Ertem M, Anak S, Kansoy S, Aksoylar S, Kuşkonmaz B, Oniz H, Slavin S, Karakas Z, Tac HA, Gulum N, Ekmekci GC. Reprod Biomed Online. 2014 Sep;29(3):340-51. doi: 10.1016/j.rbmo.2014.05.010. Epub 2014 Jun 12. PMID: 25066893

Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19. Zhang Y, Ear J, Yang Z, Morimoto K, Zhang B, Lin S. Cell Death Dis. 2014 Jul 24;5:e1352. doi: 10.1038/cddis.2014.318. PMID: 25058426

Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. Farrar JE, Quarello P, Fisher R, O’Brien KA, Aspesi A, Parrella S, Henson AL, Seidel NE, Atsidaftos E, Prakash S, Bari S, Garelli E, Arceci RJ, Dianzani I, Ramenghi U, Vlachos A, Lipton JM, Bodine DM, Ellis SR. Am J Hematol. 2014 Oct;89(10):985-91. doi: 10.1002/ajh.23807. Epub 2014 Aug 4. PMID: 25042156

Pearson syndrome in a Diamond-Blackfan anemia cohort. Alter BP. Blood. 2014 Jul 17;124(3):312-3. doi: 10.1182/blood-2014-04-571687. PMID: 25035146

Reduced translation of GATA1 in Diamond-Blackfan anemia. Boultwood J, Pellagatti A.Nat Med. 2014 Jul;20(7):703-4. doi: 10.1038/nm.3630. No abstract available. PMID: 24999938

Nom1 mediates pancreas development by regulating ribosome biogenesis in zebrafish. Qin W, Chen Z, Zhang Y, Yan R, Yan G, Li S, Zhong H, Lin S. PLoS One. 2014 Jun 26;9(6):e100796. doi: 10.1371/journal.pone.0100796. eCollection 2014.PMID: 24967912

High-throughput transcriptome sequencing identifies candidate genetic modifiers of vulnerability to fetal alcohol spectrum disorders. Garic A, Berres ME, Smith SM. Alcohol Clin Exp Res. 2014 Jul;38(7):1874-82. doi: 10.1111/acer.12457. Epub 2014 Jun 24. PMID: 24962712

Altered translation of GATA1 in Diamond-Blackfan anemia. Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG. Nat Med. 2014 Jul;20(7):748-53. doi: 10.1038/nm.3557. Epub 2014 Jun 22. PMID: 24952648

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K. Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18. PMID: 24942156

Inherited bone marrow failure syndromes in adolescents and young adults. Wilson DB, Link DC, Mason PJ, Bessler M. Ann Med. 2014 Sep;46(6):353-63. doi: 10.3109/07853890.2014.915579. Epub 2014 Jun 3. Review. PMID: 24888387

Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway. Heijnen HF, van Wijk R, Pereboom TC, Goos YJ, Seinen CW, van Oirschot BA, van Dooren R, Gastou M, Giles RH, van Solinge W, Kuijpers TW, Gazda HT, Bierings MB, Da Costa L, MacInnes AW. PLoS Genet. 2014 May 29;10(5):e1004371. doi: 10.1371/journal.pgen.1004371. eCollection 2014. PMID: 24875531

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia. Aspesi A, Pavesi E, Robotti E, Crescitelli R, Boria I, Avondo F, Moniz H, Da Costa L, Mohandas N, Roncaglia P, Ramenghi U, Ronchi A, Gustincich S, Merlin S, Marengo E, Ellis SR, Follenzi A, Santoro C, Dianzani I. Gene. 2014 Jul 25;545(2):282-9. doi: 10.1016/j.gene.2014.04.077. Epub 2014 May 15. PMID: 24835311

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA. Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14. PMID: 24829207

The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia. Danilova N, Bibikova E, Covey TM, Nathanson D, Dimitrova E, Konto Y, Lindgren A, Glader B, Radu CG, Sakamoto KM, Lin S. Dis Model Mech. 2014 Jul;7(7):895-905. doi: 10.1242/dmm.015495. Epub 2014 May 8. PMID: 24812435

Recurrent GATA1 mutations in Diamond-Blackfan anaemia. Klar J, Khalfallah A, Arzoo PS, Gazda HT, Dahl N. Br J Haematol. 2014 Sep;166(6):949-51. doi: 10.1111/bjh.12919. Epub 2014 Apr 28. No abstract available. PMID: 24766296

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S. Blood. 2014 Jul 17;124(3):437-40. doi: 10.1182/blood-2014-01-545830. Epub 2014 Apr 15. PMID: 24735966

Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency. Pospisilova D, Holub D, Zidova Z, Sulovska L, Houda J, Mihal V, Hadacova I, Radova L, Dzubak P, Hajduch M, Divoky V, Horvathova M. Haematologica. 2014 Jul;99(7):e118-21. doi: 10.3324/haematol.2014.104034. Epub 2014 Apr 11. No abstract available. PMID: 24727814

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. Chae H, Park J, Lee S, Kim M, Kim Y, Lee JW, Chung NG, Cho B, Jeong DC, Kim J, Kim JR, Park G. Exp Mol Med. 2014 Mar 28;46:e88. doi: 10.1038/emm.2013.159. PMID:  24675553

Diamond Blackfan anemia: a model for the translational approach to understanding human disease. Vlachos A, Blanc L, Lipton JM. Expert Rev Hematol. 2014 Jun;7(3):359-72. doi: 10.1586/17474086.2014.897923. Epub 2014 Mar 26. Review. PMID: 24665981

Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children. Gelbart D. JAAPA. 2014 Apr;27(4):36-44. doi: 10.1097/01.JAA.0000442702.95598.fc. Review. PMID: 24662257

Transient erythroblastopenia of childhood is an underdiagnosed and self-limiting disease. van den Akker M, Dror Y, Odame I. Acta Paediatr. 2014 Jul;103(7):e288-94. doi: 10.1111/apa.12634. Epub 2014 Apr 29. PMID: 24635829

Diamond Blackfan anemia: a Cheshire cat of hematology. Farrar JE. Pediatr Blood Cancer. 2014 Jul;61(7):1154-5. doi: 10.1002/pbc.25014. Epub 2014 Mar 14. No abstract available. PMID: 24634369

Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry. Fagioli F, Quarello P, Zecca M, Lanino E, Corti P, Favre C, Ripaldi M, Ramenghi U, Locatelli F, Prete A. Br J Haematol. 2014 Jun;165(5):673-81. doi: 10.1111/bjh.12787. Epub 2014 Feb 24. PMID: 24611452

A Case of Diamond Blackfan Anemia (DBA) with Mutation in Ribosomal Protein S19. Solomon J, Kamalammal R, Menezes GA, Sait MY, Lohith H, Ramalingam R. J Clin Diagn Res. 2014 Jan;8(1):179-80. doi: 10.7860/JCDR/2014/7018.3899. Epub 2014 Oct 23. PMID: 24596764

p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5. Singh SA, Goldberg TA, Henson AL, Husain-Krautter S, Nihrane A, Blanc L, Ellis SR, Lipton JM, Liu JM. PLoS One. 2014 Feb 18;9(2):e89098. doi: 10.1371/journal.pone.0089098. eCollection 2014. PMID: 24558476

The emerging roles of ribosome biogenesis in craniofacial development. Ross AP, Zarbalis KS. Front Physiol. 2014 Feb 4;5:26. doi: 10.3389/fphys.2014.00026. eCollection 2014. Review. PMID: 24550838

[Turner-like syndrome: a case report]. Velletri MR, Valenzise M, Wasniewska M, Arasi S, Santisi A, Romeo M, Pitrolo E, Santucci S, Corica D, Crisafulli R, Zirilli G. Pediatr Med Chir. 2013 Sep-Oct;35(5):228-30. Italian. PMID: 24516945

Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes. Pereboom TC, Bondt A, Pallaki P, Klasson TD, Goos YJ, Essers PB, Groot Koerkamp MJ, Gazda HT, Holstege FC, Costa LD, MacInnes AW. Exp Hematol. 2014 May;42(5):394-403.e4. doi: 10.1016/j.exphem.2013.12.010. Epub 2014 Jan 23. PMID: 24463277

Dysferlin and other non-red cell proteins accumulate in the red cell membrane of diamond-blackfan anemia patients. Pesciotta EN, Sriswasdi S, Tang HY, Speicher DW, Mason PJ, Bessler M. PLoS One. 2014 Jan 14;9(1):e85504. doi: 10.1371/journal.pone.0085504. eCollection 2014 Jan 14. PMID: 24454878 [PubMed – in process]

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. Parrella S, Aspesi A, Quarello P, Garelli E, Pavesi E, Carando A, Nardi M, Ellis SR, Ramenghi U, Dianzani I. Pediatr Blood Cancer. 2014 Jan 22. doi: 10.1002/pbc.24944. [Epub ahead of print] PMID: 24453067 [PubMed – as supplied by publisher]

Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure in zebrafish. Yadav GV, Chakraborty A, Uechi T, Kenmochi N. Int J Biochem Cell Biol. 2014 Jan 11. pii: S1357-2725(14)00015-6. doi: 10.1016/j.biocel.2014.01.006. [Epub ahead of print] PMID: 24417973 [PubMed – as supplied by publisher]

Nucleolar stress in Diamond Blackfan anemia pathophysiology. Ellis SR. Biochim Biophys Acta. 2014 Jan 8. pii: S0925-4439(14)00002-7. doi: 10.1016/j.bbadis.2013.12.013. [Epub ahead of print] PMID: 24412987 [PubMed – as supplied by publisher]

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. Burgess T, Brown NJ, Stark Z, Bruno DL, Oertel R, Chong B, Calabro V, Kornberg A, Sanderson C, Kelly J, Howell KB, Savarirayan R, Hinds R, Greenway A, Slater HR, White SM. Am J Med Genet A. 2014 Jan;164(1):77-86. doi: 10.1002/ajmg.a.36203. Epub 2013 Nov 21. PMID: 24352913 [PubMed – in process]

Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing. Zhang Z, Jia H, Zhang Q, Wan Y, Zhou Y, Jia Q, Zhang W, Yuan W, Cheng T, Zhu X, Fang X. BMC Genomics. 2013 Dec 17;14:896. doi: 10.1186/1471-2164-14-896. PMID: 24341334 [PubMed – in process]

Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing. Zhang Z, Jia H, Zhang Q, Wan Y, Zhou Y, Jia Q, Zhang W, Yuan W, Cheng T, Zhu X, Fang X. BMC Genomics. 2013 Dec 17;14:896. doi: 10.1186/1471-2164-14-896. PMID: 24341334 [PubMed – in process]

Persistent Pulmonary Hypertension of the Newborn Associated With Severe Congenital Anemia of Various Etiologies. Landau D, Kapelushnik J, Harush MB, Marks K, Shalev H. J Pediatr Hematol Oncol. 2013 Dec 4. [Epub ahead of print] PMID: 24309603 [PubMed – as supplied by publisher]

VarRanker: rapid prioritization of sequence variations associated with human disease. O’Fallon BD, Wooderchak-Donahue W, Bayrak-Toydemir P, Crockett D. BMC Bioinformatics. 2013;14 Suppl 13:S1. doi: 10.1186/1471-2105-14-S13-S1. Epub 2013 Oct 1. PMID: 24268183 [PubMed – in process]

A novel reduced intensity conditioning regimen for unrelated umbilical cord blood transplantation in children with non-malignant diseases. Parikh SH, Mendizabal A, Benjamin CL, Komanduri KV, Antony J, Petrovic A, Hale G, Driscoll TA, Martin PL, Page K, Flickinger K, Moffet J, Niedzwiecki D, Kurtzberg J, Szabolcs P. Biol Blood Marrow Transplant. 2013 Nov 29. doi:pii: S1083-8791(13)00558-2. 10.1016/j.bbmt.2013.11.021. [Epub ahead of print] PMID:24296492 [PubMed – as supplied by publisher]

Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders. Trainor PA, Merrill AE. Biochim Biophys Acta. 2013 Nov 16. doi:pii: S0925-4439(13)00335-9.10.1016/j.bbadis.2013.11.010. [Epub ahead of print] PMID: 24252615 [PubMed – as supplied by publisher]

Genomic characterization of the inherited bone marrow failure syndromes. Khincha PP, Savage SA. Semin Hematol. 2013 Oct;50(4):333-47. doi: 10.1053/j.seminhematol.2013.09.002. PMID: 24246701 [PubMed – in process]

Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways. Jia Q, Zhang Q, Zhang Z, Wang Y, Zhang W, Zhou Y, Wan Y, Cheng T, Zhu X, Fang X, Yuan W, Jia H. PLoS One. 2013 Nov 11;8(11). doi: 10.1371/annotation/df71e418-b886-49ea-bb6a-b96341b27cfc. PMID: 24244255 [PubMed – as supplied by publisher]

The inherited bone marrow failure syndromes. Chirnomas SD, Kupfer GM. Pediatr Clin North Am. 2013 Dec;60(6):1291-310. doi: 10.1016/j.pcl.2013.09.007. PMID: 24237972 [PubMed – in process]

Using induced human pluripotent stem cells to study Diamond-Blackfan anemia: an outlook on the clinical possibilities. Mason PJ, Perdigones N, Bessler M. Expert Rev Hematol. 2013 Dec;6(6):627-9. doi: 10.1586/17474086.2013.859521. No abstract available. PMID: 24219546 [PubMed – in process]

A Generic, Flexible Protocol for Preimplantation Human Leukocyte Antigen Typing Alone or in Combination with a Monogenic Disease, for Rapid Case Work-up and Application. Kakourou G, Destouni A, Vrettou C, Traeger-Synodinos J, Kanavakis E. Hemoglobin. 2013 Oct 16. [Epub ahead of print] PMID: 24131134 [PubMed – as supplied by publisher]

Transcriptome analysis of the zebrafish model of Diamond-Blackfan anemia from RPS19 deficiency via p53-dependent and -independent pathways. Jia Q, Zhang Q, Zhang Z, Wang Y, Zhang W, Zhou Y, Wan Y, Cheng T, Zhu X, Fang X, Yuan W, Jia H. PLoS One. 2013 Aug 19;8(8):e71782. doi: 10.1371/journal.pone.0071782. PMID: 23990987 [PubMed – in process]

Genetics. Mysterious ribosomopathies. McCann KL, Baserga SJ. Science. 2013 Aug 23;341(6148):849-50. doi: 10.1126/science.1244156. No abstract available. PMID: 23970686 [PubMed – indexed for MEDLINE]

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. Vlachos A, Farrar JE, Atsidaftos E, Muir E, Narla A, Markello TC, Singh SA, Landowski M, Gazda HT, Blanc L, Liu JM, Ellis SR, Arceci RJ, Ebert BL, Bodine DM, Lipton JM. Blood. 2013 Oct 3;122(14):2487-90. doi: 10.1182/blood-2013-06-509935. Epub 2013 Aug 13. PMID: 23943650 [PubMed – in process]

Defects in DBA: more than meets the eye. Da Costa L. Blood. 2013 Aug 8;122(6):856-7. doi: 10.1182/blood-2013-06-508465. PMID: 23929834 [PubMed – indexed for MEDLINE]

Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. Matsui K, Giri N, Alter BP, Pinto LA. Br J Haematol. 2013 Oct;163(1):81-92. doi: 10.1111/bjh.12475. Epub 2013 Jul 25. PMID: 23889587 [PubMed – in process]

The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders. Raiser DM, Narla A, Ebert BL. Leuk Lymphoma. 2013 Aug 28. [Epub ahead of print] PMID: 23863123 [PubMed – as supplied by publisher]

Tissue iron evaluation in chronically transfused children shows significant levels of iron loading at a very young age. Berdoukas V, Nord A, Carson S, Puliyel M, Hofstra T, Wood J, Coates TD. Am J Hematol. 2013 Nov;88(11):E283-5. doi: 10.1002/ajh.23543. Epub 2013 Sep 2. PMID: 23861216 [PubMed – in process]

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Landowski M, O’Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT. Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30. PMID: 23812780

Diamond blackfan anemia: a tertiary care center experience. Singh AK, Radhakrishnan N, Seth T, Mishra P, Mahapatra M, Pati H. Mediterr J Hematol Infect Dis. 2013 Jun 3;5(1):e2013039. doi: 10.4084/MJHID.2013.039. Print 2013. PMID:  23795277 [PubMed]

Cardiovascular function and treatment in β-thalassemia major: a consensus statement from the American Heart Association. Pennell DJ, Udelson JE, Arai AE, Bozkurt B, Cohen AR, Galanello R, Hoffman TM, Kiernan MS, Lerakis S, Piga A, Porter JB, Walker JM, Wood J; American Heart Association Committee on Heart Failure and Transplantation of the Council on Clinical Cardiology and Council on Cardiovascular Radiology and Imaging. Circulation. 2013 Jul 16;128(3):281-308. doi: 10.1161/CIR.0b013e31829b2be6. Epub 2013 Jun 17. Erratum in: Circulation. 2013 Sep 24;128(13):e203. PMID: 23775258 [PubMed – indexed for MEDLINE]

Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. Garçon L, Ge J, Manjunath SH, Mills JA, Apicella M, Parikh S, Sullivan LM, Podsakoff GM, Gadue P, French DL, Mason PJ, Bessler M, Weiss MJ. Blood. 2013 Aug 8;122(6):912-21. doi: 10.1182/blood-2013-01-478321. Epub 2013 Jun 6. PMID: 23744582 [PubMed – indexed for MEDLINE]

The ribosomal protein S26 regulates p53 activity in response to DNA damage. Cui D, Li L, Lou H, Sun H, Ngai SM, Shao G, Tang J. Oncogene. 2013 Jun 3. doi: 10.1038/onc.2013.170. [Epub ahead of print] PMID: 23728348 [PubMed – as supplied by publisher]

Perturbation of fetal hematopoiesis in a mouse model of Down syndrome’s transient myeloproliferative disorder. Birger Y, Goldberg L, Chlon TM, Goldenson B, Muler I, Schiby G, Jacob-Hirsch J, Rechavi G, Crispino JD, Izraeli S. Blood. 2013 Aug 8;122(6):988-98. doi: 10.1182/blood-2012-10-460998. Epub 2013 May 29. PMID: 23719302 [PubMed – indexed for MEDLINE]

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Gerrard G, Valgañón M, Foong HE, Kasperaviciute D, Iskander D, Game L, Müller M, Aitman TJ, Roberts I, de la Fuente J, Foroni L, Karadimitris A. Br J Haematol. 2013 Aug;162(4):530-6. doi: 10.1111/bjh.12397. Epub 2013 May 30. PMID: 23718193 [PubMed – indexed for MEDLINE]

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. Alter BP, Rosenberg PS, Day T, Menzel S, Giri N, Savage SA, Thein SL. Br J Haematol. 2013 Aug;162(4):542-6. doi: 10.1111/bjh.12399. Epub 2013 May 29. PMID: 23713742 [PubMed – indexed for MEDLINE]

[One case of torsades de pointes with Aase’s syndrome induced by moxifloxacin]. Cheng L, Fang Y, Li JQ. Zhonghua Xin Xue Guan Bing Za Zhi. 2013 Jan;41(1):69-70. Chinese.

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia. Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R. Am J Hematol. 2013 Apr;88(4):340-1. No abstract available.  PMID: 23641487 [PubMed – indexed for MEDLINE]

[The pure red cell aplasia in children (observation 2010-2012 years)]. Mtvarelidze Z, Kvezereli-Kopadze A, Kvezereli-Kopadze M. Georgian Med News. 2013 Mar;(216):46-51. Russian. PMID: 23567308 [PubMed – in process.

Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA. Preti M, O’Donohue MF, Montel-Lehry N, Bortolin-Cavaillé ML, Choesmel V, Gleizes PE.  Nucleic Acids Res. 2013 Apr;41(8):4709-23. doi: 10.1093/nar/gkt160. Epub 2013 Mar 12. PMID: 23482395 [PubMed – indexed for MEDLINE]

Clinical utility gene card for: Diamond-Blackfan anemia–update 2013. Vlachos A, Dahl N, Dianzani I, Lipton JM. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.34. Epub 2013 Mar 6. No abstract available. PMID: 23463023 [PubMed – in process]

Immune aregenerative anemia without erythroblastopenia: a previously undescribed condition. Brousse V, Brouzes C, Sicre de Fontbrune F, Casadevall N, Varet B. Ann Hematol. 2013 Sep;92(9):1289-90. doi: 10.1007/s00277-013-1696-2. Epub 2013 Feb 14. No abstract available. PMID: 23408098 [PubMed – indexed for MEDLINE]

Genetics of ribosomal proteins: “curiouser and curiouser”. Terzian T, Box N. PLoS Genet. 2013;9(1):e1003300. doi: 10.1371/journal.pgen.1003300. Epub 2013 Jan 31. No abstract available. PMID: 23382707 [PubMed – indexed for MEDLINE]

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes. Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA. PLoS Genet. 2013;9(1):e1003094. doi: 10.1371/journal.pgen.1003094. Epub 2013 Jan 31. PMID: 23382688 [PubMed – indexed for MEDLINE]

Quality control mechanisms during ribosome maturation. Karbstein K. Trends Cell Biol. 2013 May;23(5):242-50. doi: 10.1016/j.tcb.2013.01.004. Epub 2013 Feb 1. Review. PMID: 23375955 [PubMed – indexed for MEDLINE]

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R. Am J Hematol. 2013 Feb;88(2):160. doi: 10.1002/ajh.23366. No abstract available. Erratum in: Am J Hematol. 2013 Apr;88(4):340-1. PMID: 23349008 [PubMed – indexed for MEDLINE]

Dual functions of the C5a receptor as a connector for the K562 erythroblast-like cell-THP-1 macrophage-like cell island and as a sensor for the differentiation of the K562 erythroblast-like cell during haemin-induced erythropoiesis. Nishiura H, Zhao R, Yamamoto T. Clin Dev Immunol. 2012;2012:187080. doi: 10.1155/2012/187080. Epub 2012 Dec 30. PMID: 23346183 [PubMed – indexed for MEDLINE]

Inherited bone marrow failure syndromes in 2012. Sakaguchi H, Nakanishi K, Kojima S. Int J Hematol. 2013 Jan;97(1):20-9. doi: 10.1007/s12185-012-1249-9. Epub 2012 Dec 28. PMID: 23271412 [PubMed – in process]

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia. Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K, Alter BP, Glader B. Br J Haematol. 2013 Feb;160(4):547-54. doi: 10.1111/bjh.12167. Epub 2012 Dec 17. PMID: 23252420 [PubMed – indexed for MEDLINE]

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. Doelken SC, Seeger K, Hundsdoerfer P, Weber-Ferro W, Klopocki E, Graul-Neumann L. Am J Med Genet A. 2013 Jan;161A(1):218-24. doi: 10.1002/ajmg.a.35695. Epub 2012 Dec 14. PMID: 23239641 [PubMed – indexed for MEDLINE]

Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies. Boultwood J, Yip BH, Vuppusetty C, Pellagatti A, Wainscoat JS. Adv Biol Regul. 2013 Jan;53(1):8-17. doi: 10.1016/j.jbior.2012.09.002. Epub 2012 Sep 13. Review. PMID: 23031788 [PubMed – indexed for MEDLINE]

Osteosarcoma after bone marrow transplantation. Ueki H, Maeda N, Sekimizu M, Tsukushi S, Nishida Y, Horibe K. J Pediatr Hematol Oncol. 2013 Mar;35(2):134-8. doi: 10.1097/MPH.0b013e3182677f19. PMID: 22995925 [PubMed – indexed for MEDLINE]

[Analysis of mutations of ribosomal protein genes in 21 cases of Diamond-Blackfan anemia]. Chen YM, Ruan M, Zou Y, Guo Y, Wang SC, Chen XJ, Zhang L, Liu TF, Zhu XF. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Dec;20(6):1414-8. Chinese. PMID: 23257444 [PubMed – in process]

Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia. Horos R, von Lindern M. Br J Haematol. 2012 Dec;159(5):514-27. doi: 10.1111/bjh.12058. Epub 2012 Sep 27. Review. PMID: 23016900 [PubMed – indexed for MEDLINE]

L-Leucine alleviates Diamond-Blackfan anemia. Kamimae-Lanning AN, Kurre P. Blood. 2012 Sep 13;120(11):2157-8. doi: 10.1182/blood-2012-07-443978. No abstract available.  PMID: 22977078 [PubMed]

Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia. Neuwirtova R, Fuchs O, Holicka M, Vostry M, Kostecka A, Hajkova H, Jonasova A, Cermak J, Cmejla R, Pospisilova D, Belickova M, Siskova M, Hochova I, Vondrakova J, Sponerova D, Kadlckova E, Novakova L, Brezinova J, Michalova K. Ann Hematol. 2013 Jan;92(1):11-8. doi: 10.1007/s00277-012-1568-1. Epub 2012 Sep 11. PMID: 22965552 [PubMed – indexed for MEDLINE]

Transfusion-dependent anaemia of undetermined origin: a distinctive syndrome in paediatric medical tourism. Lee AC. Ann Acad Med Singapore. 2012 Jul;41(7):305-8. PMID: 22892608 [PubMed – indexed for MEDLINE]

Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro. Moniz H, Gastou M, Leblanc T, Hurtaud C, Crétien A, Lécluse Y, Raslova H, Larghero J, Croisille L, Faubladier M, Bluteau O, Lordier L, Tchernia G, Vainchenker W, Mohandas N, Da Costa L; DBA Group of Société d’Hématologie et d’Immunologie Pédiatrique-SHIP. Cell Death Dis. 2012 Jul 26;3:e356. doi: 10.1038/cddis.2012.88. PMID: 22833095 [PubMed – indexed for MEDLINE]

The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation. Farruggia P, Quarello P, Garelli E, Paolicchi O, Ruffo GB, Cuccia L, Cannella S, Bruno G, D’Angelo P. Pediatr Rep. 2012 Apr 2;4(2):e25. doi: 10.4081/pr.2012.e25. Epub 2012 Apr 26. PMID: 22803003 [PubMed]

Eltrombopag fails to improve severe thrombocytopenia in late-stage dyskeratosis congenita and diamond-blackfan-anaemia.
Trautmann K, Jakob C, von Grünhagen U, Schleyer E, Brümmendorf TH, Siegert G, Ehninger G, Platzbecker U.Thromb Haemost. 2012 Jun 28;108(2). [Epub ahead of print] No abstract available. PMID: 22739569 [PubMed – as supplied by publisher]

[Analysis of clinical characteristics in 45 cases of diamond-blackfan anemia].
Chen YM, Ruan M, Wang YQ, Zou Y, Zhang L, Liu TF, Zhu XF. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Jun;20(3):646-9. Chinese. PMID: 22739174 [PubMed – in process]

L-Leucine improves anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q)MDS by activating the mTOR pathway.
Payne E, Virgilio M, Narla A, Sun H, Levine M, Paw BH, Berliner N, Look AT, Ebert B, Khanna-Gupta A. Blood. 2012 Jun 25. [Epub ahead of print] PMID: 22734070 [PubMed – as supplied by publisher]

Alterations in the ribosomal machinery in cancer and hematologic disorders.
Shenoy N, Kessel R, Bhagat T, Bhattacharya S, Yu Y, McMahon C, Verma A. J Hematol Oncol. 2012 Jun 18;5(1):32. [Epub ahead of print] PMID: 22709827 [PubMed – as supplied by publisher]

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT. J Clin Invest. 2012 Jul 2;122(7):2439-43. doi: 10.1172/JCI63597. Epub 2012 Jun 18. PMID: 22706301 [PubMed – in process]

What’s in a name?
Weiss MJ, Mason PJ, Bessler M. J Clin Invest. 2012 Jul 2;122(7):2346-9. doi: 10.1172/JCI63989. Epub 2012 Jun 18. PMID: 22706300 [PubMed – in process]

High frequency of ribosomal protein gene deletions in Italian Diamond Blackfan anemia patients detected by Multiplex Ligation-dependent Probe Amplification (MLPA) assay.
Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U. Haematologica. 2012 Jun 11. [Epub ahead of print] PMID: 22689679 [PubMed – as supplied by publisher]

Hemin augments growth and hemoglobinization of erythroid precursors from patients with diamond-blackfan anemia.
Fibach E, Aker M. Anemia. 2012;2012:940260. Epub 2012 May 13. PMID: 22655180 [PubMed – in process]

Progress towards Mechanism-Based Treatment for Diamond-Blackfan Anemia.
Sjögren SE, Flygare J. ScientificWorldJournal. 2012;2012:184362. Epub 2012 Apr 24. PMID: 22619618 [PubMed – in process]

A novel mutation of ribosomal protein s10 gene in a Japanese patient with diamond-blackfan anemia.
Yazaki M, Kamei M, Ito Y, Konno Y, Wang R, Toki T, Ito E. J Pediatr Hematol Oncol. 2012 May;34(4):293-5. PMID: 22510774 [PubMed – in process]

Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.
Yanatori I, Yasui Y, Miura K, Kishi F. Blood Cells Mol Dis. 2012 Apr 5. [Epub ahead of print] PMID: 22483575 [PubMed – as supplied by publisher]

The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Pospisilova D, Cmejlova J, Ludikova B, Stary J, Cerna Z, Hak J, Timr P, Petrtylova K, Blatny J, Vokurka S, Cmejla R. Blood Cells Mol Dis. 2012 Apr 15;48(4):209-18. Epub 2012 Mar 3. PMID: 22381658 [PubMed – in process]

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.
Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. Blood. 2012 Apr 19;119(16):3815-9. Epub 2012 Feb 23. PMID: 22362038[PubMed – in process]

Chronically Transfused Pediatric Sickle Cell Patients are Protected from Cardiac Iron Overload.
Kaushik N, Eckrich MJ, Parra D, Yang E. Pediatr Hematol Oncol. 2012 Apr;29(3):254-60. Epub 2012 Feb 3.PMID: 22303979 [PubMed – in process]

Establishing Rps6 hemizygous mice as a model for studying how ribosomal protein haploinsufficiency impairs erythropoiesis.
Keel SB, Phelps S, Sabo KM, O’Leary MN, Kirn-Safran CB, Abkowitz JL. Exp Hematol. 2012 Apr;40(4):290-4. Epub 2011 Dec 20. PMID: 22198155 [PubMed – in process]

Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activation.
Taylor AM, Humphries JM, White RM, Murphey RD, Burns CE, Zon LI. Exp Hematol. 2012 Mar;40(3):228-237.e5. doi: 10.1016/j.exphem.2011.11.007.. Epub 2011 Nov 25.PMID:22120640 [PubMed – indexed for MEDLINE]

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Kojima S, Kitoh T, Goi K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I.Blood. 2012 Mar 8;119(10):2376-84. Epub 2012 Jan 18. PMID: 22262766[PubMed – in process]

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda HT, Preti M, Sheen MR, O’Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Hum Mutat. 2012 Mar 19. doi: 10.1002/humu.22081. [Epub ahead of print] PMID: 22431104 [PubMed – as supplied by publisher]

Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.
Horos R, Ijspeert H, Pospisilova D, Sendtner R, Andrieu-Soler C, Taskesen E, Nieradka A, Cmejla R, Sendtner M, Touw IP, von Lindern M. Blood. 2012 Jan 5;119(1):262-72. Epub 2011 Nov 4.PMID:22058113[PubMed – indexed for MEDLINE]

Diamond-blackfan anemia and isolated cleft palate.
Macey GL, Azzawi K. Cleft Palate Craniofac J. 2012 Jan;49(1):124. No abstract available. PMID: 22242723 [PubMed – in process]

Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM. Blood. 2011 Dec 22;118(26):6943-51. Epub 2011 Nov 1. PMID:22045982[PubMed – indexed for MEDLINE]

Fetal anemia of unknown cause–a diagnostic challenge.
Amann C, Geipel A, Müller A, Heep A, Ritgen J, Stressig R, Kozlowski P, Gembruch U, Berg C. Ultraschall Med. 2011 Dec;32 Suppl 2:E134-40. Epub 2011 Dec 9. PMID: 22161617[PubMed – in process]

Diamond Blackfan anemia.
Ball S.Hematology Am Soc Hematol Educ Program. 2011;2011:487-91. Review.PMID: 22160079 [PubMed – indexed for MEDLINE]

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia.
Jaako P, Flygare J, Olsson K, Quere R, Ehinger M, Henson A, Ellis S, Schambach A, Baum C, Richter J, Larsson J, Bryder D, Karlsson S.Blood. 2011 Dec 1;118(23):6087-96. Epub 2011 Oct 11.PMID:21989989[PubMed – indexed for MEDLINE]

Guarding the ‘translation apparatus’: defective ribosome biogenesis and the p53 signaling pathway.
Chakraborty A, Uechi T, Kenmochi N. Wiley Interdiscip Rev RNA. 2011 Jul-Aug;2(4):507-22. doi: 10.1002/wrna.73. Epub 2011 Jan 20. Review.PMID: 21957040 [PubMed – indexed for MEDLINE]

Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome.
Boultwood J, Pellagatti A, Wainscoat JS. Adv Enzyme Regul. 2011 Sep 12. [Epub ahead of print] No abstract available. PMID: 21930148 [PubMed – as supplied by publisher]

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome.
McGowan KA, Pang WW, Bhardwaj R, Perez MG, Pluvinage JV, Glader BE, Malek R, Mendrysa SM, Weissman IL, Park CY, Barsh GS. Blood. 2011 Sep 29;118(13):3622-33. Epub 2011 Jul 25. PMID: 21788341 [PubMed – in process]

Oral and dental manifestations of diamond-blackfan anemia: case reports.
Ozden FO, Gunduz K, Ozden B, Isci KD, Fisgin T. Eur J Dent. 2011 Jul;5(3):344-8. PMID: 21769279 [PubMed – in process]

Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.
Varricchio L, Godbold J, Scott SA, Whitsett C, Da Costa L, Pospisilova D, Garelli E, Quarello P, Ramenghi U, Migliaccio AR. Blood. 2011 Jul 14;118(2):473-4. No abstract available. PMID: 21757629 [PubMed – indexed for MEDLINE]

Managing the difficult case of fetal anemia.
Zhang EG, Regan F, Layton M, Paramasivam G, Wyatt-Ashmead J, Roberts I, Kumar S. J Matern Fetal Neonatal Med. 2011 Jun 30. [Epub ahead of print] PMID: 21714692 [PubMed – as supplied by publisher]

Neutrophil functions in patients with inherited bone marrow failure syndromes.
Rochowski A, Sun C, Glogauer M, Alter BP. Pediatr Blood Cancer. 2011 Aug;57(2):306-9. doi: 10.1002/pbc.22885. Epub 2010 Nov 5. PMID: 21671367 [PubMed – indexed for MEDLINE]

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y. J Med Genet. 2011 Sep;48(9):618-28. Epub 2011 Jun 9. PMID: 21659346 [PubMed – in process]

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report.
Nair V, Das S, Sharma A, Sharma S, Kaur J, Mishra D. J Med Case Reports. 2011 Jun 4;5(1):216. PMID: 21639928 [PubMed]

[The congenital parcial erithroblastopenia–Diamond-Blackfan anemia.]
Kvazireli-Kopadze MA, Pagava KI, Korinteli IA. Georgian Med News. 2011 Apr;(193):81-5. Russian. PMID: 21617281 [PubMed – indexed for MEDLINE]

Dexamethasone and lenalidomide have distinct functional effects on erythropoiesis.
Narla A, Dutt S, McAuley JR, Al-Shahrour F, Hurst S, McConkey M, Neuberg D, Ebert BL. Blood. 2011 Aug 25;118(8):2296-304. Epub 2011 Apr 28. PMID: 21527522 [PubMed – in process]

The central core region of yeast ribosomal protein L11 is important for subunit joining and translational fidelity.
Rhodin MH, Rakauskaite R, Dinman JD. Mol Genet Genomics. 2011 Jun;285(6):505-16. Epub 2011 Apr 26. PMID: 21519857 [PubMed – indexed for MEDLINE]

Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.
Burwick N, Shimamura A, Liu JM. Semin Hematol. 2011 Apr;48(2):136-43. Review. PMID: 21435510 [PubMed – in process]

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
Farrar JE, Dahl N. Semin Hematol. 2011 Apr;48(2):124-35. PMID: 21435509 [PubMed – in process]

Diamond Blackfan anemia treatment: past, present, and future.
Narla A, Vlachos A, Nathan DG. Semin Hematol. 2011 Apr;48(2):117-23. PMID: 21435508 [PubMed – in process]

Animal models of Diamond Blackfan anemia.
McGowan KA, Mason PJ. Semin Hematol. 2011 Apr;48(2):106-16. PMID: 21435507 [PubMed – in process]

Diamond Blackfan anemia: ribosomal proteins going rogue.
Ellis SR, Gleizes PE. Semin Hematol. 2011 Apr;48(2):89-96. PMID: 21435505 [PubMed – in process]

Modeling Diamond Blackfan anemia in the zebrafish.
Taylor AM, Zon LI. Semin Hematol. 2011 Apr;48(2):81-8. PMID: 21435504 [PubMed – in process]

Patient advocacy in Diamond Blackfan anemia: facilitating translational research and progress towards the cure of a rare disease.
Arturi MC. Semin Hematol. 2011 Apr;48(2):75-80. No abstract available. PMID: 21435503 [PubMed – in process]

Diamond Blackfan anemia and ribosome biogenesis: introduction.
Ebert B, Lipton JM. Semin Hematol. 2011 Apr;48(2):73-4. No abstract available. PMID: 21435502 [PubMed – in process]

Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.
Cmejla R, Ludikova B, Sukova M, Blatny J, Pospisilova D. Blood Cells Mol Dis. 2011 Apr 15;46(4):300-1. No abstract available. PMID: 21414820 [PubMed – indexed for MEDLINE]

5’UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.
Badhai J, Schuster J, Gidlöf O, Dahl N. PLoS One. 2011 Mar 11;6(3):e17672. PMID: 21412415 [PubMed – indexed for MEDLINE]

Drawing to a Diamond flush.
Ellis SR. Blood. 2011 Mar 3;117(9):2558-9. PMID: 21372157 [PubMed]

Quantification of myocardial iron deposition by two-dimensional speckle tracking in patients with {beta}-thalassaemia major and Blackfan-Diamond anaemia.
Garceau P, Nguyen ET, Carasso S, Ross H, Pendergrast J, Moravsky G, Bruchal-Garbicz B, Rakowski H. Heart. 2011 Mar;97(5):388-93. PMID: 21296782 [PubMed – in process]

Ribosome defects in disorders of erythropoiesis.
Narla A, Hurst SN, Ebert BL. Int J Hematol. 2011 Feb;93(2):144-9. Epub 2011 Feb 1.PMID: 21279816 [PubMed – in process]

Clinical utility gene card for: Diamond Blackfan anemia.
Vlachos A, Dahl N, Dianzani I, Lipton JM. Eur J Hum Genet. 2011 Jan 19. doi: 10.1038/ejhg.2010.247. [Epub ahead of print] No abstract available. PMID: 21248735 [PubMed – as supplied by publisher]

Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia.
Torihara H, Uechi T, Chakraborty A, Shinya M, Sakai N, Kenmochi N. Br J Haematol. 2011 Mar;152(5):648-54. doi: 10.1111/j.1365-2141.2010.08535.x. Epub 2011 Jan 12. PMID: 21223253 [PubMed – in process]

Genetic deletions in AML and MDS.
Ebert BL.Best Pract Res Clin Haematol. 2010 Dec;23(4):457-61. Epub 2010 Nov 4.PMID: 21130407 [PubMed – in process]

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I. Hum Mutat. 2010 Dec;31(12):1269-79.PMID: 20960466 [PubMed – in process]

Diamond Blackfan Anaemia and Isolated Cleft Palate.
Macey G, Azzawi K. Cleft Palate Craniofac J. 2010 Nov 19. [Epub ahead of print]PMID: 21117964 [PubMed – as supplied by publisher]

Ribosomal protein L11 mutation in zebrafish leads to haematopoietic and metabolic defects.
Danilova N, Sakamoto KM, Lin S. Br J Haematol. 2011 Jan;152(2):217-28. doi: 10.1111/j.1365-2141.2010.08396.x. Epub 2010 Nov 29. PMID: 21114664 [PubMed – indexed for MEDLINE]

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes.
Gadalla SM, Cawthon R, Giri N, Alter BP, Savage SA. Aging (Albany NY). 2010 Nov;2(11):867-74.PMID: 21113082 [PubMed – in process]

Outcomes after related and unrelated umbilical cord blood transplantation for non-Fanconi hereditary bone marrow failure.
Bizzetto R, Bonfim C, Rocha V, Socie’ G, Locatelli F, Chan K, Ramirez O, Stein J, Nabhan S, Miranda E, Passweg J, de Souza CA, Gluckman E. Haematologica. Haematologica. 2011 Jan;96(1):134-41. Epub 2010 Nov 11. PMID: 21071499 [PubMed – in process]

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells.
Dutt S, Narla A, Lin K, Mullally A, Abayasekara N, Megerdichian C, Wilson FH, Currie T, Khanna-Gupta A, Berliner N, Kutok JL, Ebert BL. Blood. 2011 Mar 3;117(9):2567-76. Epub 2010 Nov 10.PMID: 21068437 [PubMed – in process]

Do ribosomopathies explain some cases of common variable immunodeficiency?
Khan S, Pereira J, Darbyshire PJ, Holding S, Doré PC, Sewell WA, Huissoon A. Clin Exp Immunol. 2011 Jan;163(1):96-103. doi: 10.1111/j.1365-2249.2010.04280.x. Epub 2010 Nov 9.PMID: 21062271 [PubMed – in process]

Tyrosine 87 is vital for the activity of human protein arginine methyltransferase 3 (PRMT3).
Handrkova H, Petrak J, Halada P, Pospisilova D, Cmejla R. Biochim Biophys Acta. 2010 Nov 5. [Epub ahead of print]PMID: 21059412 [PubMed – as supplied by publisher]

Neutrophil functions in patients with inherited bone marrow failure syndromes.
Rochowski A, Sun C, Glogauer M, Alter BP. Pediatr Blood Cancer. 2010 Nov 5. [Epub ahead of print]PMID: 21058292 [PubMed – as supplied by publisher]

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia.
Wat MJ, Enciso VB, Wiszniewski W, Resnick T, Bader P, Roeder ER, Freedenberg D, Brown C, Stankiewicz P, Cheung SW, Scott DA. J Med Genet. 2010 Nov;47(11):777-81. Epub 2010 Oct 4.PMID: 20921022 [PubMed – in process]

Molecular pathogenesis in Diamond-Blackfan anemia.
Ito E, Konno Y, Toki T, Terui K. Int J Hematol. 2010 Oct;92(3):413-8. Epub 2010 Sep 30.PMID: 20882441 [PubMed – in process]

Pulmonary Embolism After Snake Bite in a Child With Diamond-Blackfan Anemia.
Makis A, Kattamis A, Grammeniatis V, Sihlimiri P, Kotsonis H, Iliadis A, Siamopoulou A, Chaliasos N. J Pediatr Hematol Oncol. 2010 Sep 28. [Epub ahead of print]PMID: 20881870 [PubMed – as supplied by publisher]

Epidemiology of rare anaemias in Europe.
Gulbis B, Eleftheriou A, Angastiniotis M, Ball S, Surrallés J, Castella M, Heimpel H, Hill A, Corrons JL. Adv Exp Med Biol. 2010;686:375-96. Review.PMID: 20824457 [PubMed – indexed for MEDLINE]

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.
O’Donohue MF, Choesmel V, Faubladier M, Fichant G, Gleizes PE. J Cell Biol. 2010 Sep 6;190(5):853-66.PMID: 20819938 [PubMed – indexed for MEDLINE]

Johanson-Blizzard syndrome with Diamond-Blackfan anemia.
Saeed M, Rana MN, Ahmad TM. J Coll Physicians Surg Pak. 2010 Sep;20(9):627-8.PMID: 20810061 [PubMed – indexed for MEDLINE]

[Impaired ribosomal protein and bone marrow failure].
Hamaguchi I.Rinsho Ketsueki. 2010 Aug;51(8):638-45. Review. Japanese. No abstract available. PMID: 20805670 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia, ribosome and erythropoiesis.
Da Costa L, Moniz H, Simansour M, Tchernia G, Mohandas N, Leblanc T. Transfus Clin Biol. 2010 Sep;17(3):112-9. Epub 2010 Jul 23.PMID: 20655265 [PubMed – in process]

How I treat Diamond-Blackfan anemia.
Vlachos A, Muir E. Blood. 2010 Nov 11;116(19):3715-23. Epub 2010 Jul 22. Review.PMID: 20651069 [PubMed – indexed for MEDLINE]

Primary Chordoid Meningioma of the Lung.
Petscavage JM, Richardson ML, Nett M, Hoch B. J Thorac Imaging. 2010 Jul 14. [Epub ahead of print]PMID: 20634760 [PubMed – as supplied by publisher]

High-throughput profiling of amino acids in strains of the Saccharomyces cerevisiae deletion collection.
Cooper SJ, Finney GL, Brown SL, Nelson SK, Hesselberth J, MacCoss MJ, Fields S. Genome Res. 2010 Sep;20(9):1288-96. Epub 2010 Jul 7.PMID: 20610602 [PubMed – in process]

A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.
Devlin EE, Dacosta L, Mohandas N, Elliott G, Bodine DM. Blood. 2010 Oct 14;116(15):2826-35. Epub 2010 Jul 6.PMID: 20606162 [PubMed – indexed for MEDLINE]

[Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients].
Chae H, Park J, Kim M, Lim J, Kim Y, Han K, Lee J, Chung NG, Cho B, Kim HK. Korean J Lab Med. 2010 Jun;30(3):249-54. Review. Korean. PMID: 20603584 [PubMed – indexed for MEDLINE]

Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.
van Kuilenburg AB, Zoetekouw L, Meijer J, Kuijpers TW. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):461-5.PMID: 20544538 [PubMed – indexed for MEDLINE]

[Diamond-Blackfan anemia. Case report].
Salariu M, Miron I, Tansanu I. Rev Med Chir Soc Med Nat Iasi. 2010 Apr-Jun;114(2):420-3. Romanian. PMID: 20700978 [PubMed – indexed for MEDLINE]

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.
Hashmi S, Allen C, Klaassen R, Fernandez C, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton J, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand J, Beyene J, Dror Y.Clin Genet. 2010 May 22. doi: 10.1111/j.1399-0004.2010.01468.x. [Epub ahead of print]PMID: 20569259 [PubMed – as supplied by publisher]

Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism.
Chiabrando D, Tolosano E. Adv Hematol. 2010;2010:790632. Epub 2010 May 5.PMID: 20454576 [PubMed – in process]

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.
Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS. Br J Haematol. 2010 Jul;150(2):179-88. Epub 2010 Apr 30.PMID: 20507306 [PubMed – indexed for MEDLINE]

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.
Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Ben Barak A, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP. Haematologica. 2010 Aug;95(8):1300-7. Epub 2010 Apr 30.PMID: 20435624 [PubMed – in process]

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia.
Schuster J, Fröjmark AS, Nilsson P, Badhai J, Virtanen A, Dahl N. Blood Cells Mol Dis. 2010 Apr 13. [Epub ahead of print]PMID: 20395159 [PubMed – as supplied by publisher]

A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.
Song MJ, Yoo EH, Lee KO, Kim GN, Kim HJ, Kim SY, Kim SH. Pediatr Blood Cancer. 2010 Apr;54(4):629-31.PMID: 19953637 [PubMed – indexed for MEDLINE]

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
Konno Y, Toki T, Tandai S, Xu G, Wang R, Terui K, Ohga S, Hara T, Hama A, Kojima S, Hasegawa D, Kosaka Y, Yanagisawa R, Koike K, Kanai R, Imai T, Hongo T, Park MJ, Sugita K, Ito E. Haematologica. 2010 Apr 7. [Epub ahead of print]PMID: 20378560 [PubMed – as supplied by publisher]

Disorders of sex development and Diamond-Blackfan anemia: is there an association?
Hoefele J, Bertrand AM, Stehr M, Leblanc T, Tchernia G, Simansour M, Mignot B, Alberer M, Schwarz HP, Da Costa L; on the behalf of the SHIP. Pediatr Nephrol. 2010 Apr 1. [Epub ahead of print]PMID: 20358230 [PubMed – as supplied by publisher]

Normalization of red cell enolase level following allogeneic bone marrow transplantation in a child with Diamond-Blackfan anemia.
Park JA, Lim YJ, Park HJ, Kong SY, Park BK, Ghim TT. J Korean Med Sci. 2010 Apr;25(4):626-9. Epub 2010 Mar 19.PMID: 20358009 [PubMed – in process]Free PMC Article

Ribosomopathies: human disorders of ribosome dysfunction.
Narla A, Ebert BL. Blood. 2010 Apr 22;115(16):3196-205. Epub 2010 Mar 1.PMID: 20194897 [PubMed – in process]

Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis.
Tabata S, Mori M, Nagai Y, Hashimoto H, Arima H, Nagano S, Takiuchi Y, Inoue D, Kimura T, Shimoji S, Yanagita S, Ito K, Matsushita A, Nagai K, Takahashi T. Intern Med. 2010;49(5):453-6. Epub 2010 Mar 1.PMID: 20190482 [PubMed – in process]

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.
Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP. Ophthalmology. 2010 Mar;117(3):615-22. Epub 2009 Dec 22.PMID: 20022637 [PubMed – indexed for MEDLINE]

Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders.
Lipton JM, Ellis SR. Curr Opin Pediatr. 2010 Feb;22(1):12-9. Review.PMID: 19915471 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U. Haematologica. 2010 Feb;95(2):206-13. Epub 2009 Sep 22.PMID: 19773262 [PubMed – in process]

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L, Sheen MR, Vlachos A, Choesmel V, O’Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT. Am J Hum Genet. 2010 Feb 12;86(2):222-8. Epub 2010 Jan 28. Erratum in: Am J Hum Genet. 2010 Apr 9;86(4):655. PMID: 20116044 [PubMed – indexed for MEDLINE]

Getting by with a little help from our friends.
Weiss MJ. Curr Opin Pediatr. 2010 Feb;22(1):1. No abstract available. PMID: 20068412 [PubMed – indexed for MEDLINE]

Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.
Crétien A, Proust A, Delaunay J, Rincé P, Leblanc T, Ducrocq R, Simansour M, Marie I, Tamary H, Meerpohl J, Niemeyer C, Gazda H, Sieff C, Ball S, Tchernia G, Mohandas N, Da Costa L. Am J Hematol. 2010 Feb;85(2):111-6.PMID: 20054847 [PubMed – indexed for MEDLINE]

Preimplantation genetic diagnosis (PGD) for HLA typing: bases for setting up an open international collaboration when PGD is not available.
Bellavia M, Von Der Weid N, Peddes C, Jacquemont S, Liebaers I, Hohlfeld P, Wunder-Galié D, de Ziegler D. Fertil Steril. 2010 Jan 12. [Epub ahead of print]PMID: 20074727 [PubMed – as supplied by publisher]

The rise of a ribosomopathy and increased cancer risk.
Luft F. J Mol Med. 2010 Jan;88(1):1-3. Epub 2009 Dec 12. No abstract available. PMID: 20012593 [PubMed – indexed for MEDLINE]

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.
Fröjmark AS, Badhai J, Klar J, Thuveson M, Schuster J, Dahl N. J Mol Med. 2010 Jan;88(1):39-46. Epub 2009 Nov 8.PMID: 19898770 [PubMed – indexed for MEDLINE]

Congenital disorders of ribosome biogenesis and bone marrow failure.
Sakamoto KM, Shimamura A, Davies SM. Biol Blood Marrow Transplant. 2010 Jan;16(1 Suppl):S12-7. Epub 2009 Sep 19.PMID: 19770060 [PubMed – in process]

Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome.
Moore JB 4th, Farrar JE, Arceci RJ, Liu JM, Ellis SR. Haematologica. 2010 Jan;95(1):57-64. Epub 2009 Aug 27.PMID: 19713223 [PubMed – in process]

Comprehensive molecular structure of the eukaryotic ribosome.
Taylor DJ, Devkota B, Huang AD, Topf M, Narayanan E, Sali A, Harvey SC, Frank J. Structure. 2009 Dec 9;17(12):1591-604.PMID: 20004163 [PubMed – indexed for MEDLINE]

Pathogenesis of the erythroid failure in Diamond Blackfan anaemia.
Sieff CA, Yang J, Merida-Long LB, Lodish HF. Br J Haematol. 2009 Dec 1. [Epub ahead of print]PMID: 19958353 [PubMed – as supplied by publisher]

Severe iron overload in Blackfan-Diamond anemia: a case-control study.
Roggero S, Quarello P, Vinciguerra T, Longo F, Piga A, Ramenghi U. Am J Hematol. 2009 Nov;84(11):729-32.PMID: 19810012 [PubMed – indexed for MEDLINE]

Images. Bilateral total hip replacement in a teenager with Diamond Blackfan anemia.
Velez KA, Johnson T, Wennemer HK. PM R. 2009 Nov;1(11):1045-7. No abstract available. PMID: 19942193 [PubMed – indexed for MEDLINE]

Driving ribosome assembly.
Kressler D, Hurt E, Baβler J. Biochim Biophys Acta. 2009 Oct 30. [Epub ahead of print]PMID: 19879902 [PubMed – as supplied by publisher]

[Ribosomal protein in impaired erythropoiesis: Diamond-Blackfan anemia and 5q- syndrome]
Ito E. Rinsho Ketsueki. 2009 Oct;50(10):1539-47. Review. Japanese. No abstract available. PMID: 19915364 [PubMed – indexed for MEDLINE]

Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia.
Handler MZ, Alabi O, Miller J. J Craniofac Surg. 2009 Sep;20(5):1417-9.PMID: 19816270 [PubMed – indexed for MEDLINE]

Diamond-Blackfan Anemia.
Clinton C, Gazda HT. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
2009 Jun 25 [updated 2009 Nov 24].PMID: 20301769 [PubMed]

Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U. Haematologica. 2009 Sep 22. [Epub ahead of print] PMID: 19773262 [PubMed – as supplied by publisher]

Congenital Disorders of Ribosome Biogenesis.
Sakamoto KM, Shimamura A, Davies S. Biol Blood Marrow Transplant. 2009 Sep 18. [Epub ahead of print] PMID: 19770060 [PubMed – as supplied by publisher]

Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
Avondo F, Roncaglia P, Crescenzio N, Krmac H, Garelli E, Armiraglio M, Castagnoli C, Campagnoli MF, Ramenghi U, Gustincich S, Santoro C, Dianzani I. BMC Genomics. 2009 Sep 18;10(1):442. [Epub ahead of print] PMID: 19765279 [PubMed – as supplied by publisher]

Distinct ribosome maturation defects in yeast models of Diamond Blackfan anemia and Shwachman Diamond syndrome.
Moore JB 4th, Farrar JE, Arceci RJ, Liu JM, Ellis SR. Haematologica. 2009 Aug 27. [Epub ahead of print] PMID: 19713223 [PubMed – as supplied by publisher]

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N. Biochim Biophys Acta. 2009 Oct;1792(10):1036-42. Epub 2009 Aug 16. PMID: 19689926 [PubMed – in process]

Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.
Martinez Barrio A, Eriksson O, Badhai J, Fröjmark AS, Bongcam-Rudloff E, Dahl N, Schuster J. PLoS One. 2009 Jul 9;4(7):e6172. PMID: 19587786 [PubMed – in process]

Chronic lymphocytic leukemia-associated pure red cell aplasia.
D’Arena G, Cascavilla N. Int J Immunopathol Pharmacol. 2009 Apr-Jun;22(2):279-86. PMID: 19505381 [PubMed – indexed for MEDLINE]

Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.
Pavesi E, Avondo F, Aspesi A, Quarello P, Rocci A, Vimercati C, Pigullo S, Dufour C, Ramenghi U, Dianzani I. Pediatr Blood Cancer. 2009 Sep;53(3):411-6. PMID: 19489057 [PubMed – indexed for MEDLINE]

Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.
Badhai J, Fröjmark AS, Razzaghian HR, Davey E, Schuster J, Dahl N. FEBS Lett. 2009 Jun 18;583(12):2049-53. Epub 2009 May 18. PMID: 19454283 [PubMed – indexed for MEDLINE]

Transfusion independence in Diamond-Blackfan anemia after deferasirox therapy.
Taher AT, Musallam KM, Koussa S, Inati A. Ann Hematol. 2009 May 5. [Epub ahead of print] No abstract available. PMID: 19415275 [PubMed – as supplied by publisher]

Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.
Lipton JM, Ellis SR. Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82. Review. PMID: 19327583 [PubMed – indexed for MEDLINE]

Hematopoietic stem cell transplantation for bone marrow failure syndromes in children.
Myers KC, Davies SM. Biol Blood Marrow Transplant. 2009 Mar;15(3):279-92.PMID: 19203719 [PubMed – in process]

The evolving spectrum of ‘non-classical’ Diamond-Blackfan anaemia–a case of eADA positive pancytopenia in a young adult.
Anur P, Nemecek ER, Kurre P. Br J Haematol. 2009 May;145(3):428-30. Epub 2009 Feb 4. No abstract available. PMID: 19208100 [PubMed – indexed for MEDLINE]

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, Stary J, Cerna Z, Jabali Y, Pospisilova D. Hum Mutat. 2009 Feb 3. [Epub ahead of print] PMID: 19191325 [PubMed – as supplied by publisher]

Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia.
Kuze M, Matsubara H, Uji Y.Jpn J Ophthalmol. 2009 Jan-Feb;53(1):67-8. Epub 2009 Jan 30. No abstract available. PMID: 19184317 [PubMed – in process]

[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis.]
Aguissa-Touré AH, Da Costa L, Leblanc T, Tchernia G, Fribourg S, Gleizes PE.Med Sci (Paris). 2009 Jan;25(1):69-76. French. PMID: 19154697 [PubMed – as supplied by publisher]

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT, Sheen MR, Vlachos A, Choesmel V, O’Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Am J Hum Genet. 2008 Dec;83(6):769-80.PMID: 19061985 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia: a ribosomal puzzle.
Dianzani I, Loreni F. Haematologica. 2008 Nov;93(11):1601-4. No abstract available. PMID: 18978295 [PubMed – in process]

Multiplex ligation-dependent probe amplification (MLPA) enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency.
Quarello P, Garelli E, Brusco A, Carando A, Pappi P, Barberis M, Coletti V, Campagnoli MF, Dianzani I, Ramenghi U. Haematologica. 2008 Oct 2. [Epub ahead of print] No abstract available. PMID: 18835835 [PubMed – as supplied by publisher]

Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.
Rey MA, Duffy SP, Brown JK, Kennedy JA, Dick JE, Dror Y, Tailor CS. Haematologica. 2008 Sep 24. [Epub ahead of print] PMID: 18815190 [PubMed – as supplied by publisher]

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.
Boria I, Quarello P, Avondo F, Garelli E, Aspesi A, Carando A, Campagnoli MF, Dianzani I, Ramenghi U. Hum Mutat. 2008 Sep 9;29(11):E263-E270. [Epub ahead of print] PMID: 18781615 [PubMed – as supplied by publisher]

Congenital erythroid and myeloid hypoplasia terminating myelodysplastic syndrome.
Nishio N, Yagasaki H, Takahashi Y, Muramatsu H, Hama A, Xu Y, Villalobos IB, Kojima S. J Pediatr Hematol Oncol. 2008 Sep;30(9):692-5. PMID: 18776763 [PubMed – indexed for MEDLINE]

Study of the effects of proteasome inhibitors on ribosomal protein S19 mutants, identified in patients with Diamond-Blackfan anemia.
Crétien A, Hurtaud C, Moniz H, Proust A, Marie I, Wagner-Ballon O, Choesmel V, Gleizes PE, Leblanc T, Delaunay J, Tchernia G, Mohandas N, Da Costa L. Haematologica. 2008 Sep 2. [Epub ahead of print] PMID: 18768533 [PubMed – as supplied by publisher]

Diamond-Blackfan anemia: a new facet.
Shimamura A. Blood. 2008 Sep 1;112(5):1552-3. No abstract available. PMID: 18725571 [PubMed]

Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation.
Flygare J, Olsson K, Richter J, Karlsson S. Exp Hematol. 2008 Nov;36(11):1434-41. Epub 2008 Aug 19. PMID: 18715690 [PubMed – in process]

The role of human ribosomal proteins in the maturation of rRNA and ribosome production.
Robledo S, Idol RA, Crimmins DL, Ladenson JH, Mason PJ, Bessler M. RNA. 2008 Sep;14(9):1918-29. Epub 2008 Aug 12. PMID: 18697920 [PubMed – indexed for MEDLINE]

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Br J Haematol. 2008 Sep;142(6):859-76. Epub 2008 Jul 30. PMID: 18671700 [PubMed – in process]

Dark skin mutations shed light on inherited anemia.
Mason PJ, Bessler M. Nat Genet. 2008 Aug;40(8):931-2. No abstract available. PMID: 18665127 [PubMed – indexed for MEDLINE]

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia.
Uechi T, Nakajima Y, Chakraborty A, Torihara H, Higa S, Kenmochi N. Hum Mol Genet. 2008 Oct 15;17(20):3204-11. Epub 2008 Jul 24. PMID: 18653748 [PubMed – in process]

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC Jr, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ. Blood. 2008 Sep 1;112(5):1582-92. Epub 2008 Jun 5. PMID: 18535205 [PubMed – indexed for MEDLINE]

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family.
Danilova N, Sakamoto KM, Lin S. Blood. 2008 May 30. [Epub ahead of print] PMID: 18515656 [PubMed – as supplied by publisher]

Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes.
Pellagatti A, Hellström-Lindberg E, Giagounidis A, Perry J, Malcovati L, Della Porta MG, Jädersten M, Killick S, Fidler C, Cazzola M, Wainscoat JS, Boultwood J. Br J Haematol. 2008 Jul;142(1):57-64. Epub 2008 May 8. PMID: 18477045 [PubMed – in process]

RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I. Hum Mutat. 2008 Jul;29(7):911-20. Review. PMID: 18412286 [PubMed – indexed for MEDLINE]

Ribosomal dysfunction and inherited marrow failure.
Ganapathi KA, Shimamura A. Br J Haematol. 2008 May;141(3):376-87. Review. PMID: 18410571 [PubMed – indexed for MEDLINE]

Obsessive compulsive disorder comorbidity in DBA.
Pallanti S, Masetti S, Bernardi S, Innocenti A, Markella M, Hollander E. Clin Pract Epidemol Ment Health. 2008 Mar 10;4:6. PMID: 18331650 [PubMed – in process]

Anemia in children.
Muramatsu H, Kojima S. Nippon Rinsho. 2008 Mar;66(3):544-7. Review. Japanese. PMID: 18326324 [PubMed – indexed for MEDLINE]

Anesthetic management in a child with Diamond-Blackfan anemia.
Katircioglu K, Ozturk Kavrut N, Ozkalkanli MY, Savaci S. Paediatr Anaesth. 2008 Jun;18(6):574-5. Epub 2008 Feb 28. No abstract available. PMID: 18312511 [PubMed – indexed for MEDLINE]

Diamond Blackfan anemia: a disorder of red blood cell development.
Ellis SR, Lipton JM. Curr Top Dev Biol. 2008;82:217-41. Review. PMID: 18282522 [PubMed – indexed for MEDLINE]

A heme export protein is required for red blood cell differentiation and iron homeostasis.
Keel SB, Doty RT, Yang Z, Quigley JG, Chen J, Knoblaugh S, Kingsley PD, De Domenico I, Vaughn MB, Kaplan J, Palis J, Abkowitz JL. Science. 2008 Feb 8;319(5864):825-8. PMID: 18258918 [PubMed – indexed for MEDLINE]

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.
Choesmel V, Fribourg S, Aguissa-Touré AH, Pinaud N, Legrand P, Gazda HT, Gleizes PE. Hum Mol Genet. 2008 May 1;17(9):1253-63. Epub 2008 Jan 29. PMID: 18230666 [PubMed – indexed for MEDLINE]

Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.
Kuramitsu M, Hamaguchi I, Takuo M, Masumi A, Momose H, Takizawa K, Mochizuki M, Naito S, Yamaguchi K. Br J Haematol. 2008 Feb;140(3):348-59. PMID: 18217898 [PubMed – indexed for MEDLINE]

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR. Nature. 2008 Jan 17;451(7176):335-9. PMID: 18202658 [PubMed – indexed for MEDLINE]

Inherited aplastic anaemias/bone marrow failure syndromes.
Dokal I, Vulliamy T. Blood Rev. 2008 May;22(3):141-53. Epub 2007 Dec 31. Review. PMID: 18164793 [PubMed – indexed for MEDLINE]

Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective study.
Porter J, Galanello R, Saglio G, Neufeld EJ, Vichinsky E, Cappellini MD, Olivieri N, Piga A, Cunningham MJ, Soulières D, Gattermann N, Tchernia G, Maertens J, Giardina P, Kwiatkowski J, Quarta G, Jeng M, Forni GL, Stadler M, Cario H, Debusscher L, Della Porta M, Cazzola M, Greenberg P, Alimena G, Rabault B, Gathmann I, Ford JM, Alberti D, Rose C. Eur J Haematol. 2008 Feb;80(2):168-76. Epub 2007 Nov 17. PMID: 18028431 [PubMed – indexed for MEDLINE]