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Page 1
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: karaouzene t. 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: karaouzene t. 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.
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: karaouzene t. EMBO Mol Med. 2018 May;10(5):e8515. doi: 10.15252/emmm.201708515. EMBO Mol Med. 2018. PMID: 29661911 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. Among authors: karaouzene t. 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 identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.
Martinez G, Kherraf ZE, Zouari R, Fourati Ben Mustapha S, Saut A, Pernet-Gallay K, Bertrand A, Bidart M, Hograindleur JP, Amiri-Yekta A, Kharouf M, Karaouzène T, Thierry-Mieg N, Dacheux-Deschamps D, Satre V, Bonhivers M, Touré A, Arnoult C, Ray PF, Coutton C. Martinez G, et al. Among authors: karaouzene t. Hum Reprod. 2018 Oct 1;33(10):1973-1984. doi: 10.1093/humrep/dey264. Hum Reprod. 2018. PMID: 30137358
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzène T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH, Bahrami S, Daneshipour A, Bini M, Arnoult C, Colombo R, Gourabi H, Ray PF. Amiri-Yekta A, et al. Among authors: karaouzene t. Hum Reprod. 2016 Dec;31(12):2872-2880. doi: 10.1093/humrep/dew262. Epub 2016 Oct 26. Hum Reprod. 2016. PMID: 27798045
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.
Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF. Ben Khelifa M, et al. Among authors: karaouzene t. Am J Hum Genet. 2014 Jan 2;94(1):95-104. doi: 10.1016/j.ajhg.2013.11.017. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360805 Free PMC article.
Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development.
Yassine S, Escoffier J, Martinez G, Coutton C, Karaouzène T, Zouari R, Ravanat JL, Metzler-Guillemain C, Lee HC, Fissore R, Hennebicq S, Ray PF, Arnoult C. Yassine S, et al. Among authors: karaouzene t. Mol Hum Reprod. 2015 Feb;21(2):169-85. doi: 10.1093/molehr/gau099. Epub 2014 Oct 29. Mol Hum Reprod. 2015. PMID: 25354700 Free PMC article.
Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation.
Escoffier J, Yassine S, Lee HC, Martinez G, Delaroche J, Coutton C, Karaouzène T, Zouari R, Metzler-Guillemain C, Pernet-Gallay K, Hennebicq S, Ray PF, Fissore R, Arnoult C. Escoffier J, et al. Among authors: karaouzene t. Mol Hum Reprod. 2015 Feb;21(2):157-68. doi: 10.1093/molehr/gau098. Epub 2014 Oct 29. Mol Hum Reprod. 2015. PMID: 25354701 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: karaouzene t. 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.
15 results