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Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.
Li W, Wu H, Li F, Tian S, Kherraf ZE, Zhang J, Ni X, Lv M, Liu C, Tan Q, Shen Y, Amiri-Yekta A, Cazin C, Zhang J, Liu W, Zheng Y, Cheng H, Wu Y, Wang J, Gao Y, Chen Y, Zha X, Jin L, Liu M, He X, Ray PF, Cao Y, Zhang F. Li W, et al. Among authors: wang j. J Med Genet. 2020 Feb;57(2):89-95. doi: 10.1136/jmedgenet-2019-106344. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501240
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: wang j. 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: wang j, wang c. 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.
A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.
Wu H, Gao Y, Ma C, Shen Q, Wang J, Lv M, Liu C, Cheng H, Zhu F, Tian S, Elshewy N, Ni X, Tan Q, Xu X, Zhou P, Wei Z, Zhang F, He X, Cao Y. Wu H, et al. Among authors: wang j. J Assist Reprod Genet. 2020 Jun;37(6):1421-1429. doi: 10.1007/s10815-020-01779-6. Epub 2020 Apr 20. J Assist Reprod Genet. 2020. PMID: 32314195 Free PMC article.
A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.
Ni X, Wang J, Lv M, Liu C, Zhong Y, Tian S, Wu H, Cheng H, Gao Y, Tan Q, Chen B, Li Q, Song B, Wei Z, Zhou P, He X, Zhang F, Cao Y. Ni X, et al. Among authors: wang j. J Assist Reprod Genet. 2020 Jun;37(6):1431-1439. doi: 10.1007/s10815-020-01770-1. Epub 2020 Apr 23. J Assist Reprod Genet. 2020. PMID: 32323121 Free PMC article.
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