MYBPC3 (c.194 C > T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by HiPSC modeling
MYBPC3 (c.194 C > T) 突变介导的 RyR2 功能障碍导致扩张型心肌病 (DCM) 的致病表型,该结果已通过 HiPSC 模型揭示。
期刊:Cellular and Molecular Life Sciences
影响因子:6.2
doi:10.1007/s00018-026-06130-3
Xie, Manting; Xie, Bingbing; Huang, Liang; Chen, Ying; Lai, Xingqiang; Yan, Mingqi; Gong, Jixing; Cao, Nan; Xiang, Andy Peng; Xiang, Qiuling