Article
Isogenic Human-Induced Pluripotent Stem-Cell-Derived Cardiomyocytes Reveal Activation of Wnt Signaling Pathways Underlying Intrinsic Cardiac Abnormalities in Rett Syndrome.
International journal of molecular sciences - 9 Dec 2022
Ng Kwong-Man, Ding Qianqian, Tse Yiu-Lam, Chou Oscar Hou-In, Lai Wing-Hon, Au Ka-Wing, Lau Yee-Man, Ji Yue, Siu Chung-Wah, Tang Clara Sze-Man, Colman Alan, Tsang Suk-Ying, Tse Hung-Fat
Abstract excerpt
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by MeCP2 mutations. Nonetheless, the pathophysiological roles of MeCP2 mutations in the etiology of intrinsic cardiac abnormality and sudden death remain unclear. In this study, we performed a detailed functional studies (calcium and electrophysiological analysis) and RNA-sequencing-based transcriptome analysis of a pair of isogenic RTT female...
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