DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis
SMCHD1缺失介导的DNMT3B剪接失调导致DUX4过表达和FSHD发病机制。
期刊:Science Advances
影响因子:11.7
doi:10.1126/sciadv.adn7732
Eden Engal ,Aveksha Sharma ,Uria Aviel ,Nadeen Taqatqa ,Sarah Juster ,Shiri Jaffe-Herman ,Mercedes Bentata ,Ophir Geminder ,Adi Gershon ,Reyut Lewis ,Gillian Kay ,Merav Hecht ,Silvina Epsztejn-Litman ,Marc Gotkine ,Vincent Mouly ,Rachel Eiges ,Maayan Salton ,Yotam Drier