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Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F. Liu C, et al. Among authors: shi q. Am J Hum Genet. 2021 Feb 4;108(2):309-323. doi: 10.1016/j.ajhg.2021.01.002. Epub 2021 Jan 19. Am J Hum Genet. 2021. PMID: 33472045 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: shi q. 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.
Rare variants in FANCA induce premature ovarian insufficiency.
Yang X, Zhang X, Jiao J, Zhang F, Pan Y, Wang Q, Chen Q, Cai B, Tang S, Zhou Z, Chen S, Yin H, Fu W, Luo Y, Li D, Li G, Shang L, Yang J, Jin L, Shi Q, Wu Y. Yang X, et al. Among authors: shi q. Hum Genet. 2019 Dec;138(11-12):1227-1236. doi: 10.1007/s00439-019-02059-9. Epub 2019 Sep 18. Hum Genet. 2019. PMID: 31535215 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: shi q. J Exp Med. 2020 Feb 3;217(2):e20182365. doi: 10.1084/jem.20182365. J Exp Med. 2020. PMID: 31658987 Free PMC article.
Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.
Zhang B, Khan I, Liu C, Ma A, Khan A, Zhang Y, Zhang H, Kakakhel MBS, Zhou J, Zhang W, Li Y, Ali A, Jiang X, Murtaza G, Khan R, Zubair M, Yuan L, Khan M, Wang L, Zhang F, Wang X, Ma H, Shi Q. Zhang B, et al. Among authors: shi q. Clin Genet. 2021 Jan;99(1):176-186. doi: 10.1111/cge.13866. Epub 2020 Nov 2. Clin Genet. 2021. PMID: 33070343
7,896 results