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Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.

Genome biology - 6 Apr 2023

Li Qun, Zhao Lin, Zeng Yang, Kuang Yanping, Guan Yichun, Chen Biaobang, Xu Shiru, Tang Bin, Wu Ling, Mao Xiaoyan, Sun Xiaoxi, Shi Juanzi, Xu Peng, Diao Feiyang, Xue Songguo, Bao Shihua, Meng Qingxia, Yuan Ping, Wang Wenjun, Ma Ning, Song Di, Xu Bei, Dong Jie, Mu Jian, Zhang Zhihua, Fan Huizhen, Gu Hao, Li Qiaoli, He Lin, Jin Li, Wang Lei, Sang Qing

Abstract excerpt

BACKGROUND: Oocyte maturation arrest and early embryonic arrest are important reproductive phenotypes resulting in female infertility and cause the recurrent failure of assisted reproductive technology (ART). However, the genetic etiologies of these female infertility-related phenotypes are poorly understood. Previous studies have mainly focused on inherited mutations based on large pedigrees or consanguineous...

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HeLa Cells
Infertility, Female
Mice
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Reproductive Biology and Fertility

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PMID: 37024973
DOI: 10.1186/s13059-023-02894-0
PMCID: PMC10080761

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