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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: cazin c. Clin Genet. 2019 Nov;96(5):394-401. doi: 10.1111/cge.13604. Epub 2019 Jul 17. Clin Genet. 2019. PMID: 31292949
Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.
Li W, Wu H, Li F, Tian S, Kherraf ZE, Zhang J, Ni X, Lv M, Liu C, Tan Q, Shen Y, Amiri-Yekta A, Cazin C, Zhang J, Liu W, Zheng Y, Cheng H, Wu Y, Wang J, Gao Y, Chen Y, Zha X, Jin L, Liu M, He X, Ray PF, Cao Y, Zhang F. Li W, et al. Among authors: cazin c. J Med Genet. 2020 Feb;57(2):89-95. doi: 10.1136/jmedgenet-2019-106344. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501240
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
Lorès P, Dacheux D, Kherraf ZE, Nsota Mbango JF, Coutton C, Stouvenel L, Ialy-Radio C, Amiri-Yekta A, Whitfield M, Schmitt A, Cazin C, Givelet M, Ferreux L, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Daneshipour A, El Khouri E, Do Cruzeiro M, Favier M, Guillonneau F, Chaudhry M, Sakheli Z, Wolf JP, Patrat C, Gacon G, Savinov SN, Hosseini SH, Robinson DR, Zouari R, Ziyyat A, Arnoult C, Dulioust E, Bonhivers M, Ray PF, Touré A. Lorès P, et al. Among authors: cazin c. Am J Hum Genet. 2019 Dec 5;105(6):1148-1167. doi: 10.1016/j.ajhg.2019.10.007. Epub 2019 Nov 14. Am J Hum Genet. 2019. PMID: 31735292 Free PMC article.
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: cazin c. 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
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
Liu C, Miyata H, Gao Y, Sha Y, Tang S, Xu Z, Whitfield M, Patrat C, Wu H, Dulioust E, Tian S, Shimada K, Cong J, Noda T, Li H, Morohoshi A, Cazin C, Kherraf ZE, Arnoult C, Jin L, He X, Ray PF, Cao Y, Touré A, Zhang F, Ikawa M. Liu C, et al. Among authors: cazin c. Am J Hum Genet. 2020 Aug 6;107(2):330-341. doi: 10.1016/j.ajhg.2020.06.004. Epub 2020 Jul 2. Am J Hum Genet. 2020. PMID: 32619401 Free PMC article.
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: cazin c. Hum Genet. 2021 Jan;140(1):43-57. doi: 10.1007/s00439-020-02229-0. Epub 2020 Oct 27. Hum Genet. 2021. PMID: 33108537
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. Among authors: cazin c. 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.
113 results