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Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice.
Zhou Y, Tu C, Coutton C, Tang J, Tian S, Tang S, Martinez G, Zhou D, Tebbakh C, Wang J, Zouari R, Zhou X, Ben Mustapha SF, Wang X, Wu B, Geng X, Liu S, Jin L, Shi H, Tan YQ, Ray PF, Wang L, Yang X, Zhang F, Liu C. Zhou Y, et al. Among authors: jin l. Sci China Life Sci. 2024 Dec 18. doi: 10.1007/s11427-024-2757-7. Online ahead of print. Sci China Life Sci. 2024. PMID: 39704931
MGA loss-of-function variants cause premature ovarian insufficiency.
Tang S, Guo T, Song C, Wang L, Zhang J, Rajkovic A, Lin X, Chen S, Liu Y, Tian W, Wu B, Wang S, Wang W, Lai Y, Wang A, Xu S, Jin L, Ke H, Zhao S, Li Y, Qin Y, Zhang F, Chen ZJ. Tang S, et al. Among authors: jin l. J Clin Invest. 2024 Nov 15;134(22):e183758. doi: 10.1172/JCI183758. J Clin Invest. 2024. PMID: 39545409 Free PMC article.
Karyopherin α deficiency contributes to human preimplantation embryo arrest.
Wang W, Miyamoto Y, Chen B, Shi J, Diao F, Zheng W, Li Q, Yu L, Li L, Xu Y, Wu L, Mao X, Fu J, Li B, Yan Z, Shi R, Xue X, Mu J, Zhang Z, Wu T, Zhao L, Wang W, Zhou Z, Dong J, Li Q, Jin L, He L, Sun X, Lin G, Kuang Y, Wang L, Sang Q. Wang W, et al. Among authors: jin l. J Clin Invest. 2023 Jan 17;133(2):e159951. doi: 10.1172/JCI159951. J Clin Invest. 2023. PMID: 36647821 Free PMC article.
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.
Li Q, Zhao L, Zeng Y, Kuang Y, Guan Y, Chen B, Xu S, Tang B, Wu L, Mao X, Sun X, Shi J, Xu P, Diao F, Xue S, Bao S, Meng Q, Yuan P, Wang W, Ma N, Song D, Xu B, Dong J, Mu J, Zhang Z, Fan H, Gu H, Li Q, He L, Jin L, Wang L, Sang Q. Li Q, et al. Among authors: jin l. Genome Biol. 2023 Apr 6;24(1):68. doi: 10.1186/s13059-023-02894-0. Genome Biol. 2023. PMID: 37024973 Free PMC article.
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