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Article

Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches.

Advances in biological regulation - 1 Jan 2018

Armstrong Richard N, Steeples Violetta, Singh Shalini, Sanchi Andrea, Boultwood Jacqueline, Pellagatti Andrea

Abstract excerpt

Mutations in splicing factor genes (SF3B1, SRSF2, U2AF1 and ZRSR2) are frequently found in patients with myelodysplastic syndromes (MDS), suggesting that aberrant spliceosome function plays a key role in the pathogenesis of MDS. Splicing factor mutations have been shown to result in aberrant splicing of many downstream target genes. Recent functional studies have begun to characterize the splicing dysfunction in...

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Source

Identifiers

PMID: 28986033
DOI: 10.1016/j.jbior.2017.09.008

Genes

SRSF2
ZRSR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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