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Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice.
Bao J, Perez CJ, Kim J, Zhang H, Murphy CJ, Hamidi T, Jaubert J, Platt CD, Chou J, Deng M, Zhou MH, Huang Y, Gaitán-Peñas H, Guénet JL, Lin K, Lu Y, Chen T, Bedford MT, Dent SY, Richburg JH, Estévez R, Pan HL, Geha RS, Shi Q, Benavides F. Bao J, et al. Among authors: zhang h. JCI Insight. 2018 Aug 23;3(16):e99767. doi: 10.1172/jci.insight.99767. eCollection 2018 Aug 23. JCI Insight. 2018. PMID: 30135305 Free PMC article.
A homozygous FANCM frameshift pathogenic variant causes male infertility.
Yin H, Ma H, Hussain S, Zhang H, Xie X, Jiang L, Jiang X, Iqbal F, Bukhari I, Jiang H, Ali A, Zhong L, Li T, Fan S, Zhang B, Gao J, Li Y, Nazish J, Khan T, Khan M, Zubair M, Hao Q, Fang H, Huang J, Huleihel M, Sha J, Pandita TK, Zhang Y, Shi Q. Yin H, et al. Among authors: zhang b, zhang h, zhang y. Genet Med. 2019 Jan;21(1):62-70. doi: 10.1038/s41436-018-0015-7. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895858 Free PMC article.
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
Zhang B, Ma H, Khan T, Ma A, Li T, Zhang H, Gao J, Zhou J, Li Y, Yu C, Bao J, Ali A, Murtaza G, Yin H, Gao Q, Jiang X, Zhang F, Liu C, Khan I, Zubair M, Hussain HMJ, Khan R, Yousaf A, Yuan L, Lu Y, Xu X, Wang Y, Tao Q, Hao Q, Fang H, Cheng H, Zhang Y, Shi Q. Zhang B, et al. Among authors: zhang f, zhang h, zhang y. J Exp Med. 2020 Feb 3;217(2):e20182365. doi: 10.1084/jem.20182365. J Exp Med. 2020. PMID: 31658987 Free PMC article.
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