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Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
Lv M, Liu W, Chi W, Ni X, Wang J, Cheng H, Li WY, Yang S, Wu H, Zhang J, Gao Y, Liu C, Li C, Yang C, Tan Q, Tang D, Zhang J, Song B, Chen YJ, Li Q, Zhong Y, Zhang Z, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang C, He X, Zhang F, Cao Y. Lv M, et al. Among authors: saiyin h. J Med Genet. 2020 Jul;57(7):445-453. doi: 10.1136/jmedgenet-2019-106479. Epub 2020 Feb 12. J Med Genet. 2020. PMID: 32051257 Free PMC article.
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.
He X, Li W, Wu H, Lv M, Liu W, Liu C, Zhu F, Li C, Fang Y, Yang C, Cheng H, Zhang J, Tan J, Chen T, Tang D, Song B, Wang X, Zha X, Wang H, Wei Z, Yang S, Saiyin H, Zhou P, Jin L, Wang J, Zhang Z, Zhang F, Cao Y. He X, et al. Among authors: saiyin h. J Med Genet. 2019 Feb;56(2):96-103. doi: 10.1136/jmedgenet-2018-105486. Epub 2018 Nov 10. J Med Genet. 2019. PMID: 30415212
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: saiyin h. 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.
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: saiyin h. 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.
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: saiyin h. 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.
83 results