Article

SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes

2020-06-26

Abstract excerpt

<h4>ABSTRACT</h4> SF3B1 is the most frequently mutated RNA splicing factor in multiple neoplasms, including ~25% of myelodysplastic syndromes (MDS) patients. Mortality in MDS frequently results from severe anemia, but the underlying mechanism is largely unknown. Here we elucidate the detailed, elusive pathway by which SF3B1 mutations cause anemia. We demonstrate, in CRISPR-edited cell models, normal human primar...

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Literature Corpus work: 5d3042b8-ae42-5919-a68f-61755774aa2d
DOI: 10.1101/2020.06.24.169052

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