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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: zhou j. 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: zhou j. Clin Genet. 2021 Jan;99(1):176-186. doi: 10.1111/cge.13866. Epub 2020 Nov 2. Clin Genet. 2021. PMID: 33070343
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. Among authors: zhou j. 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.
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