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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Hum Mol Genet
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2021
Θέματα:
General Article
Διαθέσιμο Online: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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