Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy.

doi:10.1096/fj.202100800R

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Article

Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Nov 2021

Shinomiya Haruki, Kato Hisakazu, Kuramoto Yuki, Watanabe Nozomi, Tsuruda Toshihiro, Arimura Tadaaki, Miyashita Yohei, Miyasaka Yoshiki, Mashimo Tomoji, Takuwa Ayako, Motooka Daisuke, Okuzaki Daisuke, Matsuoka Ken, Tsukamoto Osamu, Hakui Hideyuki, Yamada Noriaki, Lee Jong-Kook, Kioka Hidetaka, Kitakaze Masafumi, Takashima Seiji, Sakata Yasushi, Asano Yoshihiro

Abstract excerpt

Arrhythmogenic cardiomyopathy (ACM) caused by TMEM43 p.S358L is a fully penetrant heart disease that results in impaired cardiac function or fatal arrhythmia. However, the molecular mechanism of ACM caused by the TMEM43 variant has not yet been fully elucidated. In this study, we generated knock-in (KI) rats harboring a Tmem43 p.S358L mutation and established induced pluripotent stem cells (iPSCs) from patients...

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PMID: 34674311
DOI: 10.1096/fj.202100800R

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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