2010

 

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]