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Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.
Shen Q, Martinez G, Liu H, Beurois J, Wu H, Amiri-Yekta A, Liang D, Kherraf ZE, Bidart M, Cazin C, Celse T, Satre V, Thierry-Mieg N, Whitfield M, Touré A, Song B, Lv M, Li K, Liu C, Tao F, He X, Zhang F, Arnoult C, Ray PF, Cao Y, Coutton C. Shen Q, et al. Among authors: zhang f. Hum Genet. 2021 Sep;140(9):1367-1377. doi: 10.1007/s00439-021-02313-z. Epub 2021 Jul 13. Hum Genet. 2021. PMID: 34255152
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Chen N, et al. Among authors: zhang s, zhang f, zhang j. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. Am J Hum Genet. 2021. PMID: 33434492 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: zhang f, zhang w. 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.
Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella.
Gao Y, Tian S, Sha Y, Zha X, Cheng H, Wang A, Liu C, Lv M, Ni X, Li Q, Wu H, Tan Q, Tang D, Song B, Ding D, Cong J, Xu Y, Zhou P, Wei Z, Cao Y, Xu Y, Zhang F, He X. Gao Y, et al. Among authors: zhang f. Reprod Biomed Online. 2021 May;42(5):963-972. doi: 10.1016/j.rbmo.2021.01.011. Epub 2021 Jan 22. Reprod Biomed Online. 2021. PMID: 33771466
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.
Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, Gao Y, Wu H, Lv M, Gu Y, Lu S, Liu C, Tian S, Meng L, Wang W, Tan C, Nie H, Li D, Zhang H, Gong F, Hu L, Lu G, Xu W, Lin G, Zhang F, Cao Y, Tan YQ. Tu C, et al. Among authors: zhang q, zhang f, zhang h. Am J Hum Genet. 2021 Aug 5;108(8):1466-1477. doi: 10.1016/j.ajhg.2021.06.010. Epub 2021 Jul 7. Am J Hum Genet. 2021. PMID: 34237282 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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