Article
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
Nature communications - 15 Feb 2018
Coutton Charles, Vargas Alexandra S, Amiri-Yekta Amir, Kherraf Zine-Eddine, Ben Mustapha Selima Fourati, Le Tanno Pauline, Wambergue-Legrand Clémentine, Karaouzène Thomas, Martinez Guillaume, Crouzy Serge, Daneshipour Abbas, Hosseini Seyedeh Hanieh, Mitchell Valérie, Halouani Lazhar, Marrakchi Ouafi, Makni Mounir, Latrous Habib, Kharouf Mahmoud, Deleuze Jean-François, Boland Anne, Hennebicq Sylviane, Satre Véronique, Jouk Pierre-Simon, Thierry-Mieg Nicolas, Conne Beatrice, Dacheux Denis, Landrein Nicolas, Schmitt Alain, Stouvenel Laurence, Lorès Patrick, El Khouri Elma, Bottari Serge P, Fauré Julien, Wolf Jean-Philippe, Pernet-Gallay Karin, Escoffier Jessica, Gourabi Hamid, Robinson Derrick R, Nef Serge, Dulioust Emmanuel, Zouari Raoudha, Bonhivers Mélanie, Touré Aminata, Arnoult Christophe, Ray Pierre F
Abstract excerpt
Spermatogenesis defects concern millions of men worldwide, yet the vast majority remains undiagnosed. Here we report men with primary infertility due to multiple morphological abnormalities of the sperm flagella with severe disorganization of the sperm axoneme, a microtubule-based structure highly conserved throughout evolution. Whole-exome sequencing was performed on 78 patients allowing the identification of 22...
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