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Article

Impact of cancer-associated mutations in Hsh155/SF3b1 HEAT repeats 9-12 on pre-mRNA splicing in Saccharomyces cerevisiae.

PloS one - 1 Jan 2020

Kaur Harpreet, Groubert Brent, Paulson Joshua C, McMillan Sarah, Hoskins Aaron A

Abstract excerpt

Mutations in the splicing machinery have been implicated in a number of human diseases. Most notably, the U2 small nuclear ribonucleoprotein (snRNP) component SF3b1 has been found to be frequently mutated in blood cancers such as myelodysplastic syndromes (MDS). SF3b1 is a highly conserved HEAT repeat (HR)-containing protein and most of these blood cancer mutations cluster in a hot spot located in HR4-8....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Repetitive Sequences, Amino Acid

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Source

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Identifiers

PMID: 32320410
DOI: 10.1371/journal.pone.0229315
PMCID: PMC7176370

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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