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Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.
Liu C, Lv M, He X, Zhu Y, Amiri-Yekta A, Li W, Wu H, Kherraf ZE, Liu W, Zhang J, Tan Q, Tang S, Zhu YJ, Zhong Y, Li C, Tian S, Zhang Z, Jin L, Ray P, Zhang F, Cao Y. Liu C, et al. Among authors: zhang f, zhang j, zhang z. J Med Genet. 2020 Jan;57(1):31-37. doi: 10.1136/jmedgenet-2019-106011. Epub 2019 May 2. J Med Genet. 2020. PMID: 31048344
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. Chen W, et al. Among authors: zhang n, zhang f, zhang j, zhang y. Hum Mutat. 2020 Jan;41(1):182-195. doi: 10.1002/humu.23907. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31471994 Free PMC article.
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: zhang f, zhang 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
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Ren X, Yang N, Wu N, Xu X, Chen W, Zhang L, Li Y, Du RQ, Dong S, Zhao S, Chen S, Jiang LP, Wang L, Zhang J, Wu Z, Jin L, Qiu G, Lupski JR, Shi J, Zhang F, Liu P. Ren X, et al. Among authors: zhang l, zhang f, zhang j. J Med Genet. 2020 Jun;57(6):371-379. doi: 10.1136/jmedgenet-2019-106333. Epub 2019 Dec 30. J Med Genet. 2020. PMID: 31888956 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.
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