Article
Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro.
Cell death & disease - 26 Jul 2012
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
Abstract excerpt
Diamond-Blackfan anemia (DBA) is caused by aberrant ribosomal biogenesis due to ribosomal protein (RP) gene mutations. To develop mechanistic understanding of DBA pathogenesis, we studied CD34⁺ cells from peripheral blood of DBA patients carrying RPL11 and RPS19 ribosomal gene mutations and determined their ability to undergo erythroid differentiation in vitro. RPS19 mutations induced a decrease in proliferation...
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