Article
Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron.
Leukemia - 1 Jan 2015
Visconte V, Avishai N, Mahfouz R, Tabarroki A, Cowen J, Sharghi-Moshtaghin R, Hitomi M, Rogers H J, Hasrouni E, Phillips J, Sekeres M A, Heuer A H, Saunthararajah Y, Barnard J, Tiu R V
Abstract excerpt
Perturbation in iron homeostasis is a hallmark of some hematologic diseases. Abnormal sideroblasts with accumulation of iron in the mitochondria are named ring sideroblasts (RS). RS is a cardinal feature of refractory anemia with RS (RARS) and RARS with marked thrombocytosis (RARS/-T). Mutations in SF3B1, a member of the RNA splicing machinery are frequent in RARS/-T and defects of this gene were linked to RS...
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