SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes.

doi:10.1182/blood-2012-05-430876

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Article

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes.

Blood - 18 Oct 2012

Visconte Valeria, Rogers Heesun J, Singh Jarnail, Barnard John, Bupathi Manoj, Traina Fabiola, McMahon James, Makishima Hideki, Szpurka Hadrian, Jankowska Anna, Jerez Andres, Sekeres Mikkael A, Saunthararajah Yogen, Advani Anjali S, Copelan Edward, Koseki Haruhiko, Isono Kyoichi, Padgett Richard A, Osman Sami, Koide Kazunori, O'Keefe Christine, Maciejewski Jaroslaw P, Tiu Ramon V

Abstract excerpt

Whole exome/genome sequencing has been fundamental in the identification of somatic mutations in the spliceosome machinery in myelodysplastic syndromes (MDSs) and other hematologic disorders. SF3B1, splicing factor 3b subunit 1 is mutated in 60%-80% of refractory anemia with ring sideroblasts (RARS) and RARS associated with thrombocytosis (RARS-T), 2 distinct subtypes of MDS and MDS/myeloproliferative neoplasms...

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Identifiers

PMID: 22826563
DOI: 10.1182/blood-2012-05-430876
PMCID: PMC3476536

Genes

ASXL1
CBL

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Related research

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SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes.PMID 22826563Read ↗

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome.Semantic proximity Read ↗

SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis.Semantic proximity Read ↗

Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron.Semantic proximity Read ↗

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Somatic Mutation of SF3B1, a Gene Encoding a Core Component of RNA Splicing Machinery, in Myelodysplasia with Ring SideroblastsSemantic proximity Read ↗

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.Semantic proximity Read ↗

Erythroid differentiation intensifies RNA mis-splicing in <i>SF3B1</i> -mutant myelodysplastic syndromes with ring sideroblastsSemantic proximity Read ↗

Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodysplastic syndromes with ring sideroblasts.Semantic proximity Read ↗

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Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1 -Mutant Myelodysplastic Syndromes With Ringed SideroblastsSemantic proximity Read ↗

Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts.Semantic proximity Read ↗

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