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

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,...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10371347/
https://www.ncbi.nlm.nih.gov/pubmed/37219949
http://dx.doi.org/10.1172/jci.insight.170001