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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: ben mustapha sf. 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
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, Le Tanno P, Wambergue-Legrand C, Karaouzène T, Martinez G, Crouzy S, Daneshipour A, Hosseini SH, Mitchell V, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Deleuze JF, Boland A, Hennebicq S, Satre V, Jouk PS, Thierry-Mieg N, Conne B, Dacheux D, Landrein N, Schmitt A, Stouvenel L, Lorès P, El Khouri E, Bottari SP, Fauré J, Wolf JP, Pernet-Gallay K, Escoffier J, Gourabi H, Robinson DR, Nef S, Dulioust E, Zouari R, Bonhivers M, Touré A, Arnoult C, Ray PF. Coutton C, et al. Among authors: ben mustapha sf. Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7. Nat Commun. 2018. PMID: 29449551 Free PMC article.