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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.
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: zhang f, zhang j, zhang z. 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.
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.
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: zhang m, zhang f, zhang j. 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.
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