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Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
Muroňová J, Kherraf ZE, Giordani E, Lambert E, Eckert S, Cazin C, Amiri-Yekta A, Court M, Chevalier G, Martinez G, Neirijnck Y, Kühne F, Wehrli L, Klena N, Hamel V, De Macedo L, Escoffier J, Guichard P, Coutton C, Mustapha SFB, Kharouf M, Bouin AP, Zouari R, Thierry-Mieg N, Nef S, Geimer S, Loeuillet C, Ray PF, Arnoult C. Muroňová J, et al. Among authors: ray pf. Elife. 2024 Mar 5;12:RP86845. doi: 10.7554/eLife.86845. Elife. 2024. PMID: 38441556 Free PMC article.
Oligogenic heterozygous inheritance of sperm abnormalities in mouse.
Martinez G, Coutton C, Loeuillet C, Cazin C, Muroňová J, Boguenet M, Lambert E, Dhellemmes M, Chevalier G, Hograindleur JP, Vilpreux C, Neirijnck Y, Kherraf ZE, Escoffier J, Nef S, Ray PF, Arnoult C. Martinez G, et al. Among authors: ray pf. Elife. 2022 Apr 22;11:e75373. doi: 10.7554/eLife.75373. Elife. 2022. PMID: 35451961 Free PMC article.
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
Dacheux D, Martinez G, Broster Reix CE, Beurois J, Lores P, Tounkara M, Dupuy JW, Robinson DR, Loeuillet C, Lambert E, Wehbe Z, Escoffier J, Amiri-Yekta A, Daneshipour A, Hosseini SH, Zouari R, Mustapha SFB, Halouani L, Jiang X, Shen Y, Liu C, Thierry-Mieg N, Septier A, Bidart M, Satre V, Cazin C, Kherraf ZE, Arnoult C, Ray PF, Toure A, Bonhivers M, Coutton C. Dacheux D, et al. Among authors: ray pf. Elife. 2023 Nov 7;12:RP87698. doi: 10.7554/eLife.87698. Elife. 2023. PMID: 37934199 Free PMC article.
Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
Escoffier J, Lee HC, Yassine S, Zouari R, Martinez G, Karaouzène T, Coutton C, Kherraf ZE, Halouani L, Triki C, Nef S, Thierry-Mieg N, Savinov SN, Fissore R, Ray PF, Arnoult C. Escoffier J, et al. Among authors: ray pf. Hum Mol Genet. 2016 Mar 1;25(5):878-91. doi: 10.1093/hmg/ddv617. Epub 2015 Dec 31. Hum Mol Genet. 2016. PMID: 26721930 Free PMC article.
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: ray pf. Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7. Nat Commun. 2018. PMID: 29449551 Free PMC article.
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lorès P, Karaouzène T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Touré A, Ray PF, Zhao H, Coutton C. Dong FN, et al. Among authors: ray pf. Am J Hum Genet. 2018 Apr 5;102(4):636-648. doi: 10.1016/j.ajhg.2018.03.007. Am J Hum Genet. 2018. PMID: 29606301 Free PMC article.
Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
Kherraf ZE, Cazin C, Coutton C, Amiri-Yekta A, Martinez G, Boguenet M, Fourati Ben Mustapha S, Kharouf M, Gourabi H, Hosseini SH, Daneshipour A, Touré A, Thierry-Mieg N, Zouari R, Arnoult C, Ray PF. Kherraf ZE, et al. Among authors: ray pf. Clin Genet. 2019 Nov;96(5):394-401. doi: 10.1111/cge.13604. Epub 2019 Jul 17. Clin Genet. 2019. PMID: 31292949
137 results