Article
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.
Blood cells, molecules & diseases - 1 Jan 2000
Idol Rachel A, Robledo Sara, Du Hong-Yan, Crimmins Dan L, Wilson David B, Ladenson Jack H, Bessler Monica, Mason Philip J
Abstract excerpt
The gene encoding the small subunit ribosomal protein 19 (RPS19) is mutated in about 25% of cases of the bone marrow failure syndrome Diamond Blackfan Anemia (DBA), a childhood disease characterized by failure of red cell production. In these cases DBA is inherited as an autosomal dominant trait and RPS19 haploinsufficiency is thought to cause the disease. To study the molecular pathogenesis of DBA we used siRNA...
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