DBA Research Publications
H Moniz, M Gastou, T Leblanc, C Hurtaud, A Crétien, Y Lécluse, H Raslova, J Larghero, L Croisille, M Faubladier, O Bluteau, L Lordier, G Tchernia, W Vainchenker, N Mohandas and L Da Costa on behalf of the DBA group of Société d’Hématologie et d’Immunologie pédiatrique (SHIP) Citation: Cell Death and Disease (2012) 3, e356; doi:10.1038/cddis.2012.88 Published online 26 July 2012
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]
2011 DBA Research Publications
Translational medicine: ribosomopathies Blood October 20 2011 Volume 118, Number 16 Anupama Narla and Benjamin L. Ebert
Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-blackfan anemia. Blood. 2011 Oct 11. 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. Molecular Medicine and Gene Therapy, Lund Strategic Center for Stem Cell Biology, Lund University, Lund, Sweden
Diamond-BlackfanAnemia: The dark side of ribosome biogenesis BIOLOGIE & SANTÉ 2011 Almass-Houd Aguissa-Touré, Daniel Bacqueville, Valérie Choesmel, Jacqueline Noaillac-Depeyre, Marie-Françoise O’Donohue, Jacques Rouquette, Pierre-Emmanuel Gleizes, LBME, Université de Toulouse – CNRS Lynn A. Gregory, Noël Pinaud,Sébastien Fribourg, IECB, Université de Bordeaux – INSERM Aurore Crétien, Corinne Hurtaud, Hélène Moniz, Lydie Da Costa, Institut Gustave Roussy, Villejuif – INSERMThierry Leblanc, Hopital Robert Debré, Paris – APHP
DBA, del(5q): a reciprocal relationship doi: 10.1182/blood-2011-05-352575 Blood August 25, 2011 vol. 118 no. 8 2032-2033 Steven R. Ellis
HIF1alpha synergizes with glucocorticoids to promote BFU-E progenitor self-renewal Blood. 2011 Mar 24;117(12):3435-44. Epub 2010 Dec 21. Flygare J, Rayon Estrada V, Shin C, Gupta S, Lodish HF
Dexamethasone and lenalidomide have distinct functional effects on erythropoiesisBlood. 2011 Apr 28. [Epub ahead of print] Narla A, Dutt S, McAuley JR, Al-Shahrour F,Hurst S, McConkey M, Neuberg D, Ebert BL.
Seminars in Hematology
Volume 48, Issue 2 Pages 73 – 144 (April 2011)
Diamond Blackfan Anemia and Ribosome Biogenesisess
Edited by Benjamin Ebert MD, PhD, Jeffrey M. Lipton MD, PhD
Diamond Blackfan Anemia and Ribosome Biogenesis: Introduction
Benjamin Ebert, Jeffrey M. Lipton
Patient Advocacy in Diamond Blackfan Anemia: Facilitating Translational Research and Progress Towards the Cure of a Rare Disease
Marie Clarke Arturi
Modeling Diamond Blackfan Anemia in the Zebrafish
Alison M. Taylor, Leonard I. Zon
Diamond Blackfan Anemia: Ribosomal Proteins Going Rogue
Steven R. Ellis, Pierre-Emmanuel Gleizes
The Role of p53 in Ribosomopathies
Stefano Fumagalli, George Thomas
Animal Models of Diamond Blackfan Anemia
Kelly A. McGowan, Philip J. Mason
Diamond Blackfan Anemia Treatment: Past, Present, and Future
Anupama Narla, Adrianna Vlachos, David G. Nathan
Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia
Jason E. Farrar, Niklas Dahl
Non-Diamond Blackfan Anemia Disorders of Ribosome Function: Shwachman Diamond Syndrome and 5q- Syndrome Nicholas Burwick, Akiko Shimamura, Johnson M. Liu
5?UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability Jitendra Badhai, Jens Schuster, Olof Gidlo, Niklas Dahl* Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
Mutant Mouse Reveals New Wrinkle in Genetic Code, Say UCSF Scientists Source:Jason Bardi jason.bardi@ucsf.edu
Ribosome-Mediated Specificity in Hox mRNA Translation and Vertebrate Tissue Patterning Cell, Volume 145, Issue 3, 383-397, 29 April 2011 Nadya Kondrashov, Aya Pusic, Craig R. Stumpf, Kunihiko Shimizu, Andrew C. Hsieh, Shifeng Xue, Junko Ishijima,Toshihiko Shiroishi, Maria Barna
Drawing to a Diamond flush Steven R. Ellis; UNIVERSITY OF LOUISVILLE; blood 2011 117:2558-2559 doi:10.1182/blood-2010-12-320036 HEMATOPOIESIS & STEM CELLS Comment on Dutt et al, page 2567
In this issue of Blood,Dutt and colleagues address the selective effect of ribosomal protein haploinsufficiency on erythroid development observed in congenital Diamond-Blackfan anemia (DBA) and acquired 5q_syndrome.1 Their findings reveal a selective induction of p53 in the erythroid lineage in response to reduced expression of ribosomal proteins affected in these diseases. Moreover, the selective effect on erythropoiesis can be mimicked by activating p53 with the compound nutlin-3 and prevented by pifithrin-_, an inhibitor of p53 activation.
Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells Blood, 3 March 2011, Vol. 117, No. 9, pp. 2567-2576.Shilpee Dutt1, Anupama Narla13, Katherine Lin1, Ann Mullally1, Nirmalee Abayasekara1, Christine Megerdichian1, Frederick H. Wilson1, Treeve Currie4, Arati Khanna-Gupta1, Nancy Berliner1, Jeffery L. Kutok4, and Benjamin L. Ebert1,2,5
1 Division of Hematology, Brigham and Women’s Hospital, Boston, MA; 2 Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA; 3 Department of Medicine, Children’s Hospital Boston, Boston, MA; 4 Department of Pathology, Brigham and Women’s Hospital, Boston, MA; and 5 Harvard Stem Cell Institute, Cambridge, MA
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):388-93Toronto General Hospital, 4N-504, 585 University Avenue, Toronto, Ontario, M5G 2N2, Canada; harry.rakowski@uhn.on.ca.
Guarding the ‘translation apparatus’: defective ribosome biogenesis and the p53 signaling pathway; Anirban Chakraborty, Tamayo Uechi, Naoya Kenmochi Article first published online: 20 JAN 2011 DOI: 10.1002/wrna.73
Clinical utility gene card for: Diamond Blackfan anemia; Adrianna Vlachos1, Niklas Dahl2, Irma Dianzani3 and Jeffrey M Lipton*,1 European Journal of Human Genetics advance online publication, 19 January 2011; doi:10.1038/ejhg.2010.247
Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond–Blackfan anaemia; Hidetsugu Torihara,1 Tamayo Uechi,1 Anirban Chakraborty,1 Minori Shinya,2 Noriyoshi Sakai2 and Naoya Kenmochi1 1Frontier Science Research Centre, University of Miyazaki, Kiyotake, Miyazaki, and 2Genetic Strains Research Centre, National Institute of Genetics, Yata, Mishima, Japan
2010 DBA Research Publications
p53 Upregulation Is a Frequent Response to Deficiency of Cell-Essential Genes; Danilova N, Kumagai A, Lin J (2010) p53 Upregulation Is a Frequent Response to Deficiency of Cell-Essential Genes. PLoS ONE 5(12): e15938. doi:10.1371/journal.pone.0015938
Emerging drug class may enhance red blood cell production in anemic patients;Whitehead Institute for Biomedical Research; CAMBRIDGE, Mass. (December 22, 2010)
HIF-1 {alpha} synergizes with glucocorticoids to promote BFU-E progenitor self-renewal;Johan Flygare, Violeta Rayon Estrada, Chanseok Shin, Sumeet Gupta and Harvey F. Lodish Prepublished online Dec 21, 2010; doi:10.1182/blood-2010-07-295550
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. 2010 Nov 29. doi: 10.1111/j.1365-2141.2010.08396.x. [Epub ahead of print]PMID: 21114664 [PubMed – as supplied by publisher]
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. 2010 Nov 11. [Epub ahead of print]PMID: 21071499 [PubMed – as supplied by publisher]
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. 2010 Nov 10. [Epub ahead of print]PMID: 21068437 [PubMed – as supplied by publisher]
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]
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]
2009 DBA Research Publications
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, Ba?ler 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]
August 2008
2008 DBA Research Publications
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]