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Genetics of teratozoospermia: Back to the head.
Beurois J, Cazin C, Kherraf ZE, Martinez G, Celse T, Touré A, Arnoult C, Ray PF, Coutton C. Beurois J, et al. Best Pract Res Clin Endocrinol Metab. 2020 Dec;34(6):101473. doi: 10.1016/j.beem.2020.101473. Epub 2020 Nov 2. Best Pract Res Clin Endocrinol Metab. 2020. PMID: 33183966 Review.
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: beurois j. Elife. 2023 Nov 7;12:RP87698. doi: 10.7554/eLife.87698. Elife. 2023. PMID: 37934199 Free PMC article.
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.
Shen Q, Martinez G, Liu H, Beurois J, Wu H, Amiri-Yekta A, Liang D, Kherraf ZE, Bidart M, Cazin C, Celse T, Satre V, Thierry-Mieg N, Whitfield M, Touré A, Song B, Lv M, Li K, Liu C, Tao F, He X, Zhang F, Arnoult C, Ray PF, Cao Y, Coutton C. Shen Q, et al. Among authors: beurois j. Hum Genet. 2021 Sep;140(9):1367-1377. doi: 10.1007/s00439-021-02313-z. Epub 2021 Jul 13. Hum Genet. 2021. PMID: 34255152
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. Among authors: beurois j. 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
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF. Celse T, et al. Among authors: beurois j. Hum Genet. 2021 Jan;140(1):43-57. doi: 10.1007/s00439-020-02229-0. Epub 2020 Oct 27. Hum Genet. 2021. PMID: 33108537