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Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
Ma A, Zhou J, Ali H, Abbas T, Ali I, Muhammad Z, Dil S, Chen J, Huang X, Ma H, Zhao D, Zhang B, Zhang Y, Shah W, Shah B, Murtaza G, Iqbal F, Khan MA, Khan A, Li Q, Xu B, Wu L, Zhang H, Shi Q. Ma A, et al. Among authors: ma h. JCI Insight. 2023 Feb 8;8(3):e166869. doi: 10.1172/jci.insight.166869. JCI Insight. 2023. PMID: 36752199 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: ma h. 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.
Correction: 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: ma h. Genet Med. 2019 Jan;21(1):266. doi: 10.1038/s41436-018-0127-0. Genet Med. 2019. PMID: 30158692 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: ma a, ma h. 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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