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Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice.
Zhou Y, Tu C, Coutton C, Tang J, Tian S, Tang S, Martinez G, Zhou D, Tebbakh C, Wang J, Zouari R, Zhou X, Ben Mustapha SF, Wang X, Wu B, Geng X, Liu S, Jin L, Shi H, Tan YQ, Ray PF, Wang L, Yang X, Zhang F, Liu C. Zhou Y, et al. Among authors: liu s, liu c. Sci China Life Sci. 2024 Dec 18. doi: 10.1007/s11427-024-2757-7. Online ahead of print. Sci China Life Sci. 2024. PMID: 39704931
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: liu c. 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.
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. 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.
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.
Tian S, Tu C, He X, Meng L, Wang J, Tang S, Gao Y, Liu C, Wu H, Zhou Y, Lv M, Lin G, Jin L, Cao Y, Tang D, Zhang F, Tan YQ. Tian S, et al. Among authors: liu c. J Med Genet. 2023 Aug;60(8):827-834. doi: 10.1136/jmg-2022-108887. Epub 2023 Jan 2. J Med Genet. 2023. PMID: 36593121
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