Article
Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
American journal of human genetics - 2 Jul 2020
Zhang Zhihua, Li Bin, Fu Jing, Li Rong, Diao Feiyang, Li Caihong, Chen Biaobang, Du Jing, Zhou Zhou, Mu Jian, Yan Zheng, Wu Ling, Liu Shuai, Wang Wenjing, Zhao Lin, Dong Jie, He Lin, Liang Xiaozhen, Kuang Yanping, Sun Xiaoxi, Sang Qing, Wang Lei
Abstract excerpt
Normal oocyte meiosis is a prerequisite for successful human reproduction, and abnormalities in the process will result in infertility. In 2016, we identified mutations in TUBB8 as responsible for human oocyte meiotic arrest. However, the underlying genetic factors for most affected individuals remain unknown. TRIP13, encoding an AAA-ATPase, is a key component of the spindle assembly checkpoint, and recurrent...
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