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Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q. Fan S, et al. Am J Hum Genet. 2021 Feb 4;108(2):324-336. doi: 10.1016/j.ajhg.2021.01.010. Epub 2021 Jan 27. Am J Hum Genet. 2021. PMID: 33508233 Free PMC article.
RAD51AP2 is required for efficient meiotic recombination between X and Y chromosomes.
Ma H, Li T, Xie X, Jiang L, Ye J, Gong C, Jiang H, Fan S, Zhang H, Shi B, Zhang B, Jiang X, Li Y, Zhou J, Xu J, Zhang X, Hou X, Yin H, Zhang Y, Shi Q. Ma H, et al. Among authors: fan s. Sci Adv. 2022 Jan 14;8(2):eabk1789. doi: 10.1126/sciadv.abk1789. Epub 2022 Jan 12. Sci Adv. 2022. PMID: 35020426 Free PMC article.
A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility.
Jiao Y, Fan S, Jabeen N, Zhang H, Khan R, Murtaza G, Jiang H, Ali A, Li Y, Bao J, Zhang B, Xu J, Xu B, Hussain HMJ, Zaman Q, Khan I, Bukhari I, Iqbal F, Yousaf A, Dil S, Khan M, Ahmad N, Ma H, Jiang X, Zhang Y, Shi Q. Jiao Y, et al. Among authors: fan s. Sci Bull (Beijing). 2020 Dec 30;65(24):2120-2129. doi: 10.1016/j.scib.2020.08.026. Epub 2020 Aug 20. Sci Bull (Beijing). 2020. PMID: 36732965
Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans.
Liu J, Rahim F, Zhou J, Fan S, Jiang H, Yu C, Chen J, Xu J, Yang G, Shah W, Zubair M, Khan A, Li Y, Shah B, Zhao D, Iqbal F, Jiang X, Guo T, Xu P, Xu B, Wu L, Ma H, Zhang Y, Zhang H, Shi Q. Liu J, et al. Among authors: fan s. iScience. 2023 Jun 28;26(7):107193. doi: 10.1016/j.isci.2023.107193. eCollection 2023 Jul 21. iScience. 2023. PMID: 37485353 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: fan s. 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.
8,523 results