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SaveCFAP251 deletion and ICSI outcome in Tunisian infertile men with multiple morphological abnormalities of the sperm flagellum
Ayed, Wiem; Chtorou, Sana; Thierry-Mieg, Nicolas; Frikha, Wiem; Berjeb, Khadija Kacem; Braham, Marouen; Chakroun, Nozha; Toure, Aminata; Ray, Pierre F.; Amouri, Ahlem Share Save A recurrent loss-of-function variant in DRC1 causes non-syndromic severe asthenozoospermia with favorable intracytoplasmic sperm injection and pregnancy outcomesTebbakh, Celia; Barbotin, Anne-Laure; Martinez, Guillaume; Boursier, Angele; Wehbe, Zeina; Hammouda, Asma; Thierry-Mieg, Nicolas; Arnoult, Christophe; Ben Mustapha, Selima Fourati; Zouari, Raoudha; Ray, Pierre F.; Kherraf, Zine-Eddine Share Save Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variantsWehbe, Zeina; Barbotin, Anne-Laure; Boursier, Angele; Cazin, Caroline; Hograindleur, Jean-Pascal; Bidart, Marie; Fontaine, Emeline; Plouvier, Pauline; Puch, Florence; Satre, Veronique; Arnoult, Christophe; Mustapha, Selima Fourati Ben; Zouari, Raoudha; Thierry-Mieg, Nicolas; Ray, Pierre F.; Kherraf, Zine-Eddine; Coutton, Charles; Martinez, Guillaume Share Save Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouseMuronova, Jana; Kherraf, Zine Eddine; Giordani, Elsa; Lambert, Emeline; Eckert, Simon; Cazin, Caroline; Amiri-Yekta, Amir; Court, Magali; Chevalier, Genevieve; Martinez, Guillaume; Neirijnck, Yasmine; Kuhne, Francoise; Wehrli, Lydia; Klena, Nikolai; Hamel, Virginie; De Macedo, Lisa; Escoffier, Jessica; Guichard, Paul; Coutton, Charles; Ben Mustapha, Selima Fourati; Kharouf, Mahmoud; Bouin, Anne-Pacale; Zouari, Raoudha; Thierry-Mieg, Nicolas; Nef, Serge; Geimer, Stefan; Loeuillet, Corinne; Ray, Pierre F.; Arnoult, Christophe Share Save Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum functionDacheux, Denis; Martinez, Guillaume; Broster Reix, Christine E.; Beurois, Julie; Lores, Patrick; Tounkara, Magamba; Dupuy, Jean-William; Robinson, Derrick Roy; Loeuillet, Corinne; Lambert, Emeline; Wehbe, Zeina; Escoffier, Jessica; Amiri-Yekta, Amir; Daneshipour, Abbas; Hosseini, Seyedeh-Hanieh; Zouari, Raoudha; Mustapha, Selima Fourati Ben; Halouani, Lazhar; Jiang, Xiaohui; Shen, Ying; Liu, Chunyu; Thierry-Mieg, Nicolas; Septier, Amandine; Bidart, Marie; Satre, Veronique; Cazin, Caroline; Kherraf, Zine Eddine; Arnoult, Christophe; Ray, Pierre F.; Toure, Aminata; Bonhivers, Melanie; Coutton, Charles Share Save Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parametersCoudert, Alicia; Cazin, Caroline; Amiri-Yekta, Amir; Ben Mustapha, Selima Fourati; Zouari, Raoudha; Bessonat, Julien; Zoghmar, Abdelali; Clergeau, Antoine; Metzler-Guillemain, Catherine; Triki, Chema; Lejeune, Herve; Sermondade, Nathalie; Pipiras, Eva; Prisant, Nadia; Cedrin, Isabelle; Koscinski, Isabelle; Keskes, Leila; Lestrade, Florence; Hesters, Laetitia; Rives, Nathalie; Dorphin, Beatrice; Guichet, Agnes; Patrat, Catherine; Dulioust, Emmanuel; Feraille, Aurelie; Robert, Francois; Brouillet, Sophie; Morel, Frederic; Perrin, Aurore; Rougier, Nathalie; Bieth, Eric; Sorlin, Arthur; Siffroi, Jean-Pierre; Ben Khelifa, Mariem; Boiterelle, Florence; Hennebicq, Sylvianne; Satre, Veronique; Arnoult, Christophe; Coutton, Charles; Barbotin, Anne-Laure; Thierry-Mieg, Nicolas; Kherraf, Zine-Eddine; Ray, Pierre F. Share Save The [PSI+] prion modulates cytochrome c oxidase deficiency caused by deletion of COX12Saini, Pawan Kumar; Dawitz, Hannah; Aufschnaiter, Andreas; Bondarev, Stanislav; Thomas, Jinsu; Amblard, Amelie; Stewart, James; Thierry-Mieg, Nicolas; Ott, Martin; Pierrel, Fabien Share Save Share Save Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermiaKherraf, Zine-Eddine; Cazin, Carolin; Bouker, Amine; Ben Mustapha, Selima Fourati; Hennebicq, Sylviane; Septier, Amandine; Coutton, Charles; Raymond, Laure; Nouchy, Marc; Thierry-Mieg, Nicolas; Zouari, Raoudha; Arnoult, Christophe; Ray, Pierre F. Share Save 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 CCT6BCazin, Caroline; Neirijnck, Yasmine; Loeuillet, Corinne; Wehrli, Lydia; Kuehne, Francoise; Lordey, Isabelle; Ben Mustapha, Selima Fourati; Bouker, Amin; Zouari, Raoudha; Thierry-Mieg, Nicolas; Nef, Serge; Arnoult, Christophe; Ray, Pierre F.; Kherraf, Zine-Eddine Share Save Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouseShen, Qunshan; Martinez, Guillaume; Liu, Hongbin; Beurois, Julie; Wu, Huan; Amiri-Yekta, Amir; Liang, Dan; Kherraf, Zine-Eddine; Bidart, Marie; Cazin, Caroline; Celse, Tristan; Satre, Veronique; Thierry-Mieg, Nicolas; Whitfield, Marjorie; Toure, Aminata; Song, Bing; Lv, Mingrong; Li, Kuokuo; Liu, Chunyu; Tao, Fangbiao; He, Xiaojin; Zhang, Feng; Arnoult, Christophe; Ray, Pierre F.; Cao, Yunxia; Coutton, Charles Share Save A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndromeLores, Patrick; Kherraf, Zine-Eddine; Amiri-Yekta, Amir; Whitfield, Marjorie; Daneshipour, Abbas; Stouvenel, Laurence; Cazin, Caroline; Cavarocchi, Emma; Coutton, Charles; Llabador, Marie-Astrid; Arnoult, Christophe; Thierry-Mieg, Nicolas; Ferreux, Lucile; Patrat, Catherine; Hosseini, Seyedeh-Hanieh; Ben Mustapha, Selima Fourati; Zouari, Raoudha; Dulioust, Emmanuel; Ray, Pierre F.; Toure, Aminata Share Save A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndromeLores, Patrick; Kheraff, Zine-Eddine; Amiri-Yekta, Amir; Whitfield, Marjorie; Daneshipour, Abbas; Stouvenel, Laurence; Cazin, Caroline; Cavarocchi, Emma; Coutton, Charles; Llabador, Marie-Astrid; Arnoult, Christophe; Thierry-Mieg, Nicolas; Ferreux, Lucile; Patrat, Catherine; Hosseini, Seyedeh-Hanieh; Ben Mustapha, Selima Fourati; Zouari, Raoudha; Dulioust, Emmanuel; Ray, Pierre F.; Toure, Aminata Share Save Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case reportArafah, Karim; Lopez, Fabrice; Cazin, Caroline; Kherraf, Zine-Eddine; Tassistro, Virginie; Loundou, Anderson; Arnoult, Christophe; Thierry-Mieg, Nicolas; Bulet, Philippe; Guichaoua, Marie-Roberte; Ray, Pierre F. Share Save Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest playerCelse, Tristan; Cazin, Caroline; Mietton, Flore; Martinez, Guillaume; Martinez, Delphine; Thierry-Mieg, Nicolas; Septier, Amandine; Guillemain, Catherine; Beurois, Julie; Clergeau, Antoine; Ben Mustapha, Selima Fourati; Kharouf, Mahmoud; Zoghmar, Abdelali; Chargui, Ahmed; Papaxanthos, Aline; Dorphin, Beatrice; Foliguet, Bernard; Triki, Chema; Sifer, Christophe; Lauton, Dominique; Tachdjian, Gerard; Schuler, Gilles; Lejeune, Herve; Puechberty, Jacques; Bessonnat, Julien; Pasquier, Laurent; Mery, Lionel; Poulain, Marine; Chaabouni, Myriam; Sermondade, Nathalie; Cabry, Rosalie; Benbouhadja, Sebti; Veau, Segolene; Frapsauce, Cynthia; Mitchell, Valerie; Achard, Vincent; Satre, Veronique; Hennebicq, Sylviane; Zouari, Raoudha; Arnoult, Christophe; Kherraf, Zine-Eddine; Coutton, Charles; Ray, Pierre F. Share Save Biallelic variants inMAATS1encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertilityMartinez, Guillaume; Beurois, Julie; Dacheux, Denis; Cazin, Caroline; Bidart, Marie; Kherraf, Zine-Eddine; Robinson, Derrick R.; Satre, Veronique; Le Gac, Gerald; Ka, Chandran; Gourlaouen, Isabelle; Fichou, Yann; Petre, Graciane; Dulioust, Emmanuel; Zouari, Raoudha; Thierry-Mieg, Nicolas; Toure, Aminata; Arnoult, Christophe; Bonhivers, Melanie; Ray, Pierre; Coutton, Charles Share Save CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case reportBeurois, Julie; Martinez, Guillaume; Cazin, Caroline; Kherraf, Zine-Eddine; Amiri-Yekta, Amir; Thierry-Mieg, Nicolas; Bidart, Marie; Petre, Graciane; Satre, Veronique; Brouillet, Sophie; Toure, Aminata; Arnoult, Christophe; Ray, Pierre F.; Coutton, Charles Share Save Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and MiceCoutton, Charles; Martinez, Guillaume; Kherraf, Zine-Eddine; Amiri-Yekta, Amir; Boguenet, Magalie; Saut, Antoine; He, Xiaojin; Zhang, Feng; Cristou-Kent, Marie; Escoffier, Jessica; Bidart, Marie; Satre, Veronique; Conne, Beatrice; Ben Mustapha, Selima Fourati; Halouani, Lazhar; Marrakchi, Ouafi; Makni, Mounir; Latrous, Habib; Kharouf, Mahmoud; Pernet-Gallay, Karin; Bonhivers, Melanie; Hennebicq, Sylviane; Rives, Nathalie; Dulioust, Emmanuel; Toure, Aminata; Gourabi, Hamid; Cao, Yunxia; Zouari, Raoudha; Hosseini, Seyedeh Hanieh; Nef, Serge; Thierry-Mieg, Nicolas; Arnoult, Christophe; Ray, Pierre F. 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