Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes

Desmoglein-2, encoded by DSG2, is one of the desmosome proteins that maintain the structural integrity of tissues, including heart. Genetic mutations in DSG2 cause arrhythmogenic cardiomyopathy, mainly in an autosomal dominant manner. Here, we identified a homozygous stop-gain mutations in DSG2 (c.C...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Shiba, Mikio, Higo, Shuichiro, Kondo, Takumi, Li, Junjun, Liu, Li, Ikeda, Yoshihiko, Kohama, Yasuaki, Kameda, Satoshi, Tabata, Tomoka, Inoue, Hiroyuki, Nakamura, Satoki, Takeda, Maki, Ito, Emiko, Takashima, Seiji, Miyagawa, Shigeru, Sawa, Yoshiki, Hikoso, Shungo, Sakata, Yasushi
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8283207/
https://ncbi.nlm.nih.gov/pubmed/33949662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab127
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