Recent Research Publications

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]

Human gene mutations. Gene symbol: RPS19. Disease: Diamond-Blackfan anaemia.
Pereira J, Molinés A, Ribeiro ML. Hum Genet. 2007 Sep;122(2):213. No abstract available. PMID: 18386372 [PubMed – indexed for MEDLINE]

Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia.
Zeidler C, Welte K. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007 Dec;50(12):1564-8. Review. German. PMID: 18026880 [PubMed – indexed for MEDLINE]

Diagnosis, genetics, and management of inherited bone marrow failure syndromes.
Alter BP. Hematology Am Soc Hematol Educ Program. 2007;2007:29-39. PMID: 18024606 [PubMed – in process]

Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia.
Miyake K, Utsugisawa T, Flygare J, Kiefer T, Hamaguchi I, Richter J, Karlsson S. Stem Cells. 2008 Feb;26(2):323-9. Epub 2007 Oct 25. PMID: 17962699 [PubMed – indexed for MEDLINE]

Successful treatment of Diamond Blackfan anemia with metoclopramide.
Nawel G, Fethi M, Kouki R, Mohamed B. J Pediatr Hematol Oncol. 2007 Oct;29(10):728. No abstract available. PMID: 17921858 [PubMed – indexed for MEDLINE]

Bone marrow examination of inherited diseases in children.
Fenneteau O, Lainey E. Ann Biol Clin (Paris). 2007 Sep-Oct;65(5):483-503. Review. French. PMID: 17913668 [PubMed – indexed for MEDLINE]

Reversal of mirror syndrome after prenatal treatment of Diamond-Blackfan anemia.
Valsky DV, Daum H, Yagel S. Prenat Diagn. 2007 Dec;27(12):1161-4. No abstract available. PMID: 17828794 [PubMed – indexed for MEDLINE]

Erythrocyte disorders in the perinatal period.
Steiner LA, Gallagher PG. Semin Perinatol. 2007 Aug;31(4):254-61. Review. PMID: 17825683 [PubMed – indexed for MEDLINE]

Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.
Gregory LA, Aguissa-Touré AH, Pinaud N, Legrand P, Gleizes PE, Fribourg S. Nucleic Acids Res. 2007;35(17):5913-21. Epub 2007 Aug 28. PMID: 17726054 [PubMed – indexed for MEDLINE]

Hematopoietic stem cell transplantation for Diamond-Blackfan anemia: a report from the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology.
Mugishima H, Ohga S, Ohara A, Kojima S, Fujisawa K, Tsukimoto I; for the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology. Pediatr Transplant. 2007 Sep;11(6):601-7. PMID: 17663681 [PubMed – indexed for MEDLINE]

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D. Hum Mutat. 2007 Dec;28(12):1178-82. PMID: 17647292 [PubMed – indexed for MEDLINE]

Hematopoietic growth factors for the treatment of inherited cytopenias.
Zeidler C, Welte K. Semin Hematol. 2007 Jul;44(3):133-7. Review. PMID: 17631177 [PubMed – indexed for MEDLINE]

Ribosomal protein mutations in Diamond-Blackfan anemia: might they operate upstream from protein synthesis?
Pederson T. FASEB J. 2007 Nov;21(13):3442-5. Epub 2007 Jun 22. PMID: 17586729 [PubMed – indexed for MEDLINE]

Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine.
Pospisilova D, Cmejlova J, Hak J, Adam T, Cmejla R. Haematologica. 2007 May;92(5):e66-7. No abstract available. PMID: 17562599 [PubMed – indexed for MEDLINE]

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Angelini M, Cannata S, Mercaldo V, Gibello L, Santoro C, Dianzani I, Loreni F. Hum Mol Genet. 2007 Jul 15;16(14):1720-7. Epub 2007 May 20. PMID: 17517689 [PubMed – indexed for MEDLINE]

Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report.
McFarren A, Jayabose S, Fevzi Ozkaynak M, Tugal O, Sandoval C. J Pediatr Hematol Oncol. 2007 May;29(5):338-40. PMID: 17483715 [PubMed – indexed for MEDLINE]

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.
Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A. Blood. 2007 Sep 1;110(5):1458-65. Epub 2007 May 2. PMID: 17475909 [PubMed – indexed for MEDLINE]

Current diagnosis of inherited bone marrow failure syndromes.
Tamary H, Alter BP. Pediatr Hematol Oncol. 2007 Mar;24(2):87-99. Review. PMID: 17454774 [PubMed – indexed for MEDLINE]

Comparison of megadose methylprednisolone versus conventional dose prednisolone in hematologic disorders.
Yetgin S, Ozsoylu S. J Pediatr Hematol Oncol. 2007 Apr;29(4):253-9. Review. PMID: 17414568 [PubMed – indexed for MEDLINE]

Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.
Idol RA, Robledo S, Du HY, Crimmins DL, Wilson DB, Ladenson JH, Bessler M, Mason PJ. Blood Cells Mol Dis. 2007 Jul-Aug;39(1):35-43. Epub 2007 Mar 21. PMID: 17376718 [PubMed – indexed for MEDLINE]

RPS19 and JAK2 genes are not silenced by DNA methylation in diamond blackfan anemia.
Jelinek J, Issa JP, He R, Cmejla R, Cmejlova J, Pospisilova D. J Pediatr Hematol Oncol. 2007 Mar;29(3):207-8. No abstract available. PMID: 17356406 [PubMed – indexed for MEDLINE]

Deferasirox.
Stumpf JL. Am J Health Syst Pharm. 2007 Mar 15;64(6):606-16. Review. PMID: 17353569 [PubMed – indexed for MEDLINE]

Fatal agranulocytosis after deferiprone therapy in a child with Diamond-Blackfan anemia.
Henter JI, Karlén J. Blood. 2007 Jun 15;109(12):5157-9. Epub 2007 Mar 7. PMID: 17344464 [PubMed – indexed for MEDLINE]

Metoclopramide treatment in DBA patients: no complete response in a French prospective study.
Leblanc TM, Da Costa L, Marie I, Demolis P, Tchernia G. Blood. 2007 Mar 1;109(5):2266-7. No abstract available. PMID: 17312003 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia: erythropoiesis lost in translation.
Flygare J, Karlsson S. Blood. 2007 Apr 15;109(8):3152-4. Epub 2006 Dec 12. Review. PMID: 17164339 [PubMed – indexed for MEDLINE]

Analysis of the ribosomal protein S19 interactome.
Orrù S, Aspesi A, Armiraglio M, Caterino M, Loreni F, Ruoppolo M, Santoro C, Dianzani I. Mol Cell Proteomics. 2007 Mar;6(3):382-93. Epub 2006 Dec 6. PMID: 17151020 [PubMed – indexed for MEDLINE]

Impaired ribosome biogenesis in Diamond-Blackfan anemia.
Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Crétien A, Leblanc T, Tchernia G, Da Costa L, Gleizes PE. Blood. 2007 Feb 1;109(3):1275-83. Epub 2006 Oct 19. PMID: 17053056 [PubMed – indexed for MEDLINE]

Hypocholesterolemia in chronic anemias with increased erythropoietic activity.
Shalev H, Kapelushnik J, Moser A, Knobler H, Tamary H. Am J Hematol. 2007 Mar;82(3):199-202. PMID: 17039515 [PubMed – indexed for MEDLINE]

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.
Flygare J, Aspesi A, Bailey JC, Miyake K, Caffrey JM, Karlsson S, Ellis SR. Blood. 2007 Feb 1;109(3):980-6. Epub 2006 Sep 21. PMID: 16990592 [PubMed – indexed for MEDLINE]

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA. Am J Hum Genet. 2006 Dec;79(6):1110-8. Epub 2006 Nov 2. PMID: 17186470 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia: clinical features and treatment results in 4 cases.
Naithani R, Chandra J, Narayan S, Singh V, Dutta AK. Hematology. 2006 Jun;11(3):193-5. PMID: 17325961 [PubMed – indexed for MEDLINE]

The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.
Morimoto K, Lin S, Sakamoto K. Mol Genet Metab. 2007 Apr;90(4):358-62. Epub 2006 Dec 18. Review. PMID: 17178250 [PubMed – indexed for MEDLINE]

Inherited bone marrow failure syndromes: molecular features.
Shimamura A. Hematology Am Soc Hematol Educ Program. 2006:63-71. Review. PMID: 17124042 [PubMed – indexed for MEDLINE]

A four base pair insertion in exon 1 of the RPS19 gene is a common polymorphism in African-Americans.
Huang Q, Robledo S, Wilson DB, Bessler M, Mason PJ. Br J Haematol. 2006 Dec;135(5):745-6. No abstract available. PMID: 17107358 [PubMed – indexed for MEDLINE]

Translational efficiency in patients with Diamond-Blackfan anemia.
Cmejlova J, Dolezalova L, Pospisilova D, Petrtylova K, Petrak J, Cmejla R. Haematologica. 2006 Nov;91(11):1456-64. PMID: 17082006 [PubMed – indexed for MEDLINE]

Fanconi’s anaemia and related bone marrow failure syndromes.
Dokal I. Br Med Bull. 2006;77-78:37-53. Epub 2006 Sep 11. Review. PMID: 16968690 [PubMed – indexed for MEDLINE]

Recent insights into the pathogenesis of Diamond-Blackfan anaemia.
Gazda HT, Sieff CA. Br J Haematol. 2006 Oct;135(2):149-57. Epub 2006 Aug 31. Review. PMID: 16942586 [PubMed – indexed for MEDLINE]

Diamond blackfan anemia: New paradigms for a “not so pure” inherited red cell aplasia.
Lipton JM. Semin Hematol. 2006 Jul;43(3):167-77. Review. PMID: 16822459 [PubMed – indexed for MEDLINE]

Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations.
Koga Y, Ohga S, Nomura A, Takada H, Hara T. J Pediatr Hematol Oncol. 2006 Jun;28(6):355-61. PMID: 16794503 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia in remission for 2 years on valproic acid.
Jabr FI, Taher A. Haematologica. 2006 Jun;91(6 Suppl):ELT05. No abstract available. PMID: 16785135 [PubMed – indexed for MEDLINE]

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.
Gazda HT, Kho AT, Sanoudou D, Zaucha JM, Kohane IS, Sieff CA, Beggs AH. Stem Cells. 2006 Sep;24(9):2034-44. Epub 2006 Jun 1. PMID: 16741228 [PubMed – indexed for MEDLINE]

Couple is given go-ahead to use embryo selection to help existing child.
Dyer C. BMJ. 2006 May 13;332(7550):1114. No abstract available. PMID: 16690663 [PubMed – indexed for MEDLINE]

Case records of the Massachusetts General Hospital. Case 14-2006. A 25-year-old woman with anemia and iron overload.
Attar EC, Hasserjian RP. N Engl J Med. 2006 May 11;354(19):2047-56. No abstract available. PMID: 16687718 [PubMed – indexed for MEDLINE]

Hodgkin lymphoma in a child with Diamond Blackfan anemia.
Yaris N, Erduran E, Cobanoglu U. J Pediatr Hematol Oncol. 2006 Apr;28(4):234-6. PMID: 16679921 [PubMed – indexed for MEDLINE]

Disease progression in recently diagnosed patients with inherited marrow failure syndromes: a Canadian Inherited Marrow Failure Registry (CIMFR) report.
Steele JM, Sung L, Klaassen R, Fernandez CV, Yanofsky R, Wu J, Odame I, Silva M, Champagne J, Ali K, Brossard J, Samson Y, Abish S, Le D, Jardine L, Hand JP, Lipton JH, Charpentier K, Stephens D, Freedman M, Dror Y; Canadian Inherited Marrow Failure Registry. Pediatr Blood Cancer. 2006 Dec;47(7):918-25. PMID: 16676307 [PubMed – indexed for MEDLINE]

High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries.
Faivre L, Meerpohl J, Da Costa L, Marie I, Nouvel C, Gnekow A, Bender-Götze C, Bauters F, Coiffier B, Peaud PY, Rispal P, Berrebi A, Berger C, Flesch M, Sagot P, Varet B, Niemeyer C, Tchernia G, Leblanc T. Haematologica. 2006 Apr;91(4):530-3. Epub 2006 Mar 15. PMID: 16537118 [PubMed – indexed for MEDLINE]

Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia.
Cmejlova J, Cerna Z, Votava T, Pospisilova D, Cmejla R. Blood Cells Mol Dis. 2006 May-Jun;36(3):337-41. Epub 2006 Mar 13. PMID: 16531079 [PubMed – indexed for MEDLINE]

Phylogeny, sequence conservation, and functional complementation of the SBDS protein family.
Boocock GR, Marit MR, Rommens JM. Genomics. 2006 Jun;87(6):758-71. Epub 2006 Mar 10. PMID: 16529906 [PubMed – indexed for MEDLINE]

Ribosomes and marrow failure: coincidental association or molecular paradigm?
Liu JM, Ellis SR. Blood. 2006 Jun 15;107(12):4583-8. Epub 2006 Feb 28. Review. PMID: 16507776 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia associated with beta-thalassemia trait.
Tavil B, Cetin M, Kuşkonmaz B, Gümrük F. Am J Hematol. 2006 Mar;81(3):214-5. PMID: 16493623 [PubMed – indexed for MEDLINE]

Advances in understanding the genetic basis for bone-marrow failure.
Lieberman L, Dror Y. Curr Opin Pediatr. 2006 Feb;18(1):15-21. Review. PMID: 16470156 [PubMed – indexed for MEDLINE]

Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.
Matsson H, Davey EJ, Fröjmark AS, Miyake K, Utsugisawa T, Flygare J, Zahou E, Byman I, Landin B, Ronquist G, Karlsson S, Dahl N. Blood Cells Mol Dis. 2006 Mar-Apr;36(2):259-64. Epub 2006 Feb 7. PMID: 16458028 [PubMed – indexed for MEDLINE]

Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry.
Lipton JM, Atsidaftos E, Zyskind I, Vlachos A. Pediatr Blood Cancer. 2006 May 1;46(5):558-64. PMID: 16317735 [PubMed – indexed for MEDLINE]

A novel nucleolar protein interacts with ribosomal protein S19.
Maeda N, Toku S, Kenmochi N, Tanaka T. Biochem Biophys Res Commun. 2006 Jan 6;339(1):41-6. Epub 2005 Nov 8. PMID: 16289379 [PubMed – indexed for MEDLINE]

Diamond Blackfan anemia: A paradigm for a ribosome-based disease.
Ellis SR, Massey AT. Med Hypotheses. 2006;66(3):643-8. Epub 2005 Oct 18. PMID: 16239073 [PubMed – indexed for MEDLINE]