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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: nef s. 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: nef s. Elife. 2022 Apr 22;11:e75373. doi: 10.7554/eLife.75373. Elife. 2022. PMID: 35451961 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: nef s. 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: nef s. Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7. Nat Commun. 2018. PMID: 29449551 Free PMC article.
Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B.
Cazin C, Neirijnck Y, Loeuillet C, Wehrli L, Kühne F, Lordey I, Mustapha SFB, Bouker A, Zouari R, Thierry-Mieg N, Nef S, Arnoult C, Ray PF, Kherraf ZE. Cazin C, et al. Among authors: nef s. Cells. 2021 Dec 30;11(1):118. doi: 10.3390/cells11010118. Cells. 2021. PMID: 35011680 Free PMC article.
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
Kherraf ZE, Christou-Kent M, Karaouzene T, Amiri-Yekta A, Martinez G, Vargas AS, Lambert E, Borel C, Dorphin B, Aknin-Seifer I, Mitchell MJ, Metzler-Guillemain C, Escoffier J, Nef S, Grepillat M, Thierry-Mieg N, Satre V, Bailly M, Boitrelle F, Pernet-Gallay K, Hennebicq S, Fauré J, Bottari SP, Coutton C, Ray PF, Arnoult C. Kherraf ZE, et al. Among authors: nef s. EMBO Mol Med. 2017 Aug;9(8):1132-1149. doi: 10.15252/emmm.201607461. EMBO Mol Med. 2017. PMID: 28554943 Free PMC article.
PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.
Christou-Kent M, Kherraf ZE, Amiri-Yekta A, Le Blévec E, Karaouzène T, Conne B, Escoffier J, Assou S, Guttin A, Lambert E, Martinez G, Boguenet M, Fourati Ben Mustapha S, Cedrin Durnerin I, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Coutton C, Thierry-Mieg N, Nef S, Bottari SP, Zouari R, Issartel JP, Ray PF, Arnoult C. Christou-Kent M, et al. Among authors: nef s. EMBO Mol Med. 2018 May;10(5):e8515. doi: 10.15252/emmm.201708515. EMBO Mol Med. 2018. PMID: 29661911 Free PMC article.
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Touré A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF. Coutton C, et al. Among authors: nef s. Am J Hum Genet. 2019 Feb 7;104(2):331-340. doi: 10.1016/j.ajhg.2018.12.013. Epub 2019 Jan 24. Am J Hum Genet. 2019. PMID: 30686508 Free PMC article.
144 results