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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Détails bibliographiques
Publié dans:Hum Mol Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2021
Sujets:
General Article
Accès en ligne: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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