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Article

Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.

JCI insight - 10 Jul 2023

Zhang Yanghai, Gregorich Zachery R, Wang Yujuan, Braz Camila Urbano, Zhang Jibin, Liu Yang, Liu Peiheng, Shen Jiaxi, Aori Nanyumuzi, Hacker Timothy A, Granzier Henk, Guo Wei

Abstract excerpt

Human patients carrying genetic mutations in RNA binding motif 20 (RBM20) develop a clinically aggressive dilated cardiomyopathy (DCM). Genetic mutation knockin (KI) animal models imply that altered function of the arginine-serine-rich (RS) domain is crucial for severe DCM. To test this hypothesis, we generated an RS domain deletion mouse model (Rbm20ΔRS). We showed that Rbm20ΔRS mice manifested DCM with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37219949
DOI: 10.1172/jci.insight.170001
PMCID: PMC10371347

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