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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: gleizes pe. 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.
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. Campagnoli MF, et al. Among authors: gleizes pe. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Hum Mutat. 2008. PMID: 18412286 Review.
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: gleizes pe. Haematologica. 2008 Nov;93(11):1627-34. doi: 10.3324/haematol.13023. Epub 2008 Sep 2. Haematologica. 2008. PMID: 18768533 Free article.
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. Gazda HT, et al. Among authors: gleizes pe. Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004. Am J Hum Genet. 2008. PMID: 19061985 Free PMC article.
77 results