Matches in SemOpenAlex for { <https://semopenalex.org/work/W1915661113> ?p ?o ?g. }
- W1915661113 abstract "Significance Mutations in genes encoding proteins that function in splicing of mRNA precursors occur frequently in myelodysplastic syndromes (MDS) and certain leukemias. However, the mechanism by which the mutated splicing factors function has begun to be elucidated only recently. Here we use genome-editing techniques to introduce a common MDS mutation in the gene Serine/arginine-rich splicing factor 2 ( SRSF2 ), which encodes an RNA-binding splicing regulator, in cultured blood cells. We show that splicing of several hundred transcripts, including some with possible relevance to disease, is altered. We further show that mutant SRSF2 is sufficient to induce these changes and does so by binding to RNA sequence elements in the misregulated mRNAs with altered specificity." @default.
- W1915661113 created "2016-06-24" @default.
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- W1915661113 date "2015-08-10" @default.
- W1915661113 modified "2023-10-16" @default.
- W1915661113 title "Disease-associated mutation in <i>SRSF2</i> misregulates splicing by altering RNA-binding affinities" @default.
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- W1915661113 doi "https://doi.org/10.1073/pnas.1514105112" @default.
- W1915661113 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4553800" @default.
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