期刊
JOURNAL OF CELL BIOLOGY
卷 212, 期 1, 页码 13-27出版社
ROCKEFELLER UNIV PRESS
DOI: 10.1083/jcb.201510032
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- Canadian Institutes of Health Research
Examples of associations between human disease and defects in pre-messenger RNA splicing/alternative splicing are accumulating. Although many alterations are caused by mutations in splicing signals or regulatory sequence elements, recent studies have noted the disruptive impact of mutated generic spliceosome components and splicing regulatory proteins. This review highlights recent progress in our understanding of how the altered splicing function of RNA-binding proteins contributes to myelodys-plastic syndromes, cancer, and neuropathologies.
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