Mtm1-KO 基因敲除小鼠

1. Karolczak, Sophie, Deshwar, Ashish R, Aristegui, Evangelina, Yin, Chunyue, Dowling, James J. 2023. Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. In The Journal of clinical investigation, 133, . doi:10.1172/JCI166275. https://pubmed.ncbi.nlm.nih.gov/37490339/

2. Jin, Neng, Xv, Dong, Xv, Ye-Tao, Lu, Jve-Fei, Luo, Qiong. 2023. Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review. In European journal of obstetrics, gynecology, and reproductive biology, 291, 34-38. doi:10.1016/j.ejogrb.2023.10.001. https://pubmed.ncbi.nlm.nih.gov/37813004/

3. Raess, Matthieu A, Cowling, Belinda S, Bertazzi, Dimitri L, Friant, Sylvie, Laporte, Jocelyn. . Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy. In Human molecular genetics, 26, 3736-3748. doi:10.1093/hmg/ddx258. https://pubmed.ncbi.nlm.nih.gov/28934386/