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Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
Tang S, Wang X, Li W, Yang X, Li Z, Liu W, Li C, Zhu Z, Wang L, Wang J, Zhang L, Sun X, Zhi E, Wang H, Li H, Jin L, Luo Y, Wang J, Yang S, Zhang F. Tang S, et al. Among authors: yang s, yang x. Am J Hum Genet. 2017 Jun 1;100(6):854-864. doi: 10.1016/j.ajhg.2017.04.012. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552195 Free PMC article.
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
He X, Liu C, Yang X, Lv M, Ni X, Li Q, Cheng H, Liu W, Tian S, Wu H, Gao Y, Yang C, Tan Q, Cong J, Tang D, Zhang J, Song B, Zhong Y, Li H, Zhi W, Mao X, Fu F, Ge L, Shen Q, Zhang M, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang F, Cao Y. He X, et al. Among authors: yang c, yang x. Am J Hum Genet. 2020 Sep 3;107(3):514-526. doi: 10.1016/j.ajhg.2020.07.010. Epub 2020 Aug 12. Am J Hum Genet. 2020. PMID: 32791035 Free PMC article.
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models.
Liu C, Si W, Tu C, Tian S, He X, Wang S, Yang X, Yao C, Li C, Kherraf ZE, Ye M, Zhou Z, Ma Y, Gao Y, Li Y, Liu Q, Tang S, Wang J, Saiyin H, Zhao L, Yang L, Meng L, Chen B, Tang D, Zhou Y, Wu H, Lv M, Tan C, Lin G, Kong Q, Shi H, Su Z, Li Z, Yao YG, Jin L, Zheng P, Ray PF, Tan YQ, Cao Y, Zhang F. Liu C, et al. Among authors: yang l, yang x. Am J Hum Genet. 2023 Mar 2;110(3):516-530. doi: 10.1016/j.ajhg.2023.01.016. Epub 2023 Feb 15. Am J Hum Genet. 2023. PMID: 36796361 Free PMC article.
Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice.
Zhou Y, Tu C, Coutton C, Tang J, Tian S, Tang S, Martinez G, Zhou D, Tebbakh C, Wang J, Zouari R, Zhou X, Ben Mustapha SF, Wang X, Wu B, Geng X, Liu S, Jin L, Shi H, Tan YQ, Ray PF, Wang L, Yang X, Zhang F, Liu C. Zhou Y, et al. Among authors: yang x. Sci China Life Sci. 2024 Dec 18. doi: 10.1007/s11427-024-2757-7. Online ahead of print. Sci China Life Sci. 2024. PMID: 39704931
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