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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. Among authors: zhang f, zhang j, zhang z. 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
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: zhang c, zhang f, zhang j, zhang z. 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 variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.
Tang D, Sha Y, Gao Y, Zhang J, Cheng H, Zhang J, Ni X, Wang C, Xu C, Geng H, He X, Cao Y. Tang D, et al. Among authors: zhang j. Reprod Biol Endocrinol. 2021 Feb 20;19(1):27. doi: 10.1186/s12958-021-00709-0. Reprod Biol Endocrinol. 2021. PMID: 33610189 Free PMC article.
Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.
Lv M, Liu C, Ma C, Yu H, Shao Z, Gao Y, Liu Y, Wu H, Tang D, Tan Q, Zhang J, Li K, Xu C, Geng H, Zhang J, Li H, Mao X, Ge L, Fu F, Zhong K, Xu Y, Tao F, Zhou P, Wei Z, He X, Zhang F, Cao Y. Lv M, et al. Among authors: zhang f, zhang j. Reprod Biol Endocrinol. 2022 Jan 3;20(1):5. doi: 10.1186/s12958-021-00880-4. Reprod Biol Endocrinol. 2022. PMID: 34980136 Free PMC article.
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