[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]