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Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.
Liu T, Rahim F, Yang ML, Uddin M, Ye JW, Ali I, Raza Y, Mansoor A, Shoaib M, Hussain M, Khan I, Shah B, Khan A, Nisar A, Ma H, Xu B, Shah W, Shi QH. Liu T, et al. Among authors: khan a, khan i. Asian J Androl. 2024 Dec 17. doi: 10.4103/aja202496. Online ahead of print. Asian J Androl. 2024. PMID: 39686771 Free 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: khan r, khan a, khan m, khan i. Clin Genet. 2021 Jan;99(1):176-186. doi: 10.1111/cge.13866. Epub 2020 Nov 2. Clin Genet. 2021. PMID: 33070343
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: khan ma, khan a. JCI Insight. 2023 Feb 8;8(3):e166869. doi: 10.1172/jci.insight.166869. JCI Insight. 2023. PMID: 36752199 Free PMC article.
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: khan a. 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.
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