Article

Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies

2021-06-03

Abstract excerpt

<h4>ABSTRACT</h4> RNA binding motif protein 20 (RBM20) is a key regulator of alternative splicing in the heart, and its mutation leads to malignant dilated cardiomyopathy (DCM). To understand the mechanism of RBM20-associated DCM, we engineered isogenic human induced pluripotent stem cells (iPSCs) with heterozygous or homozygous DCM-associated missense mutations in RBM20 (R636S) as well as RBM20 knockout (KO) iPS...

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Literature Corpus work: 3ac3ae7a-2348-5347-9b33-00975dcf0686
DOI: 10.1101/2021.06.02.446820

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