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Page 1
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: thierry mieg n. Elife. 2024 Mar 5;12:RP86845. doi: 10.7554/eLife.86845. Elife. 2024. PMID: 38441556 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: thierry mieg n. 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. 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. 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. 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.
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.
Kherraf ZE, Amiri-Yekta A, Dacheux D, Karaouzène T, Coutton C, Christou-Kent M, Martinez G, Landrein N, Le Tanno P, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Gourabi H, Robinson DR, Crouzy S, Blum M, Thierry-Mieg N, Touré A, Zouari R, Arnoult C, Bonhivers M, Ray PF. Kherraf ZE, et al. Am J Hum Genet. 2018 Sep 6;103(3):400-412. doi: 10.1016/j.ajhg.2018.07.014. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122540 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. Clin Genet. 2019 Nov;96(5):394-401. doi: 10.1111/cge.13604. Epub 2019 Jul 17. Clin Genet. 2019. PMID: 31292949
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
Martinez G, Beurois J, Dacheux D, Cazin C, Bidart M, Kherraf ZE, Robinson DR, Satre V, Le Gac G, Ka C, Gourlaouen I, Fichou Y, Petre G, Dulioust E, Zouari R, Thierry-Mieg N, Touré A, Arnoult C, Bonhivers M, Ray P, Coutton C. Martinez G, et al. J Med Genet. 2020 Oct;57(10):708-716. doi: 10.1136/jmedgenet-2019-106775. Epub 2020 Mar 11. J Med Genet. 2020. PMID: 32161152
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Lorès P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Touré A. Lorès P, et al. Hum Genet. 2021 Jul;140(7):1031-1043. doi: 10.1007/s00439-021-02270-7. Epub 2021 Mar 10. Hum Genet. 2021. PMID: 33689014
53 results