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Page 1
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. Boria I, et al. Among authors: da costa l. Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383. Hum Mutat. 2010. PMID: 20960466 Free PMC article.
Postmortem diagnosis of Diamond-Blackfan anemia.
Beauchamp-Nicoud A, Da Costa L, Proust A, Rincé P, Saker S, Tchernia G. Beauchamp-Nicoud A, et al. Among authors: da costa l. J Pediatr Hematol Oncol. 2004 Dec;26(12):847-8. J Pediatr Hematol Oncol. 2004. PMID: 15591911
Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.
Flygare J, Kiefer T, Miyake K, Utsugisawa T, Hamaguchi I, Da Costa L, Richter J, Davey EJ, Matsson H, Dahl N, Wiznerowicz M, Trono D, Karlsson S. Flygare J, et al. Among authors: da costa l. Blood. 2005 Jun 15;105(12):4627-34. doi: 10.1182/blood-2004-08-3115. Epub 2004 Dec 30. Blood. 2005. PMID: 15626736 Free article.
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. Faivre L, et al. Among authors: da costa l. Haematologica. 2006 Apr;91(4):530-3. Epub 2006 Mar 15. Haematologica. 2006. PMID: 16537118
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. Choesmel V, et al. Among authors: da costa l. Blood. 2007 Feb 1;109(3):1275-83. doi: 10.1182/blood-2006-07-038372. Epub 2006 Oct 19. Blood. 2007. PMID: 17053056 Free PMC article.
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. Gazda HT, et al. Among authors: da costa l. Am J Hum Genet. 2006 Dec;79(6):1110-8. doi: 10.1086/510020. Epub 2006 Nov 2. Am J Hum Genet. 2006. PMID: 17186470 Free PMC article.
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) 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. Crétien A, et al. Among authors: da costa l. Haematologica. 2008 Nov;93(11):1627-34. doi: 10.3324/haematol.13023. Epub 2008 Sep 2. Haematologica. 2008. PMID: 18768533 Free article.
695 results