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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. 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 Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.
Liu W, He X, Yang S, Zouari R, Wang J, Wu H, Kherraf ZE, Liu C, Coutton C, Zhao R, Tang D, Tang S, Lv M, Fang Y, Li W, Li H, Zhao J, Wang X, Zhao S, Zhang J, Arnoult C, Jin L, Zhang Z, Ray PF, Cao Y, Zhang F. Liu W, et al. Among authors: he x. Am J Hum Genet. 2019 Apr 4;104(4):738-748. doi: 10.1016/j.ajhg.2019.02.020. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929735 Free PMC article.
Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice.
Liu C, He X, Liu W, Yang S, Wang L, Li W, Wu H, Tang S, Ni X, Wang J, Gao Y, Tian S, Zhang L, Cong J, Zhang Z, Tan Q, Zhang J, Li H, Zhong Y, Lv M, Li J, Jin L, Cao Y, Zhang F. Liu C, et al. Among authors: he x. Am J Hum Genet. 2019 Dec 5;105(6):1168-1181. doi: 10.1016/j.ajhg.2019.10.010. Epub 2019 Nov 14. Am J Hum Genet. 2019. PMID: 31735294 Free PMC article.
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: he x. 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.
Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
Wu H, Wang J, Cheng H, Gao Y, Liu W, Zhang Z, Jiang H, Li W, Zhu F, Lv M, Liu C, Tan Q, Zhang X, Wang C, Ni X, Chen Y, Song B, Zhou P, Wei Z, Zhang F, He X, Cao Y. Wu H, et al. Among authors: he x. J Assist Reprod Genet. 2020 Apr;37(4):829-840. doi: 10.1007/s10815-020-01721-w. Epub 2020 Mar 2. J Assist Reprod Genet. 2020. PMID: 32124190 Free PMC article.
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