Testicular impairment in Primary Adrenal Insufficiency caused by Nicotinamide Nucleotide Transhydrogenase (NNT) deficiency - a case report: implication of oxidative stress and importance of fertility preservation

Autor: Lucile Ferreux, Yasmine Boumerdassi, Emmanuel Dulioust, Xavier Bertagna, Florence Roucher-Boulez, Mathilde Bourdon, Nicolas Thiounn, Catherine Patrat

Publikováno v: Basic and Clinical Andrology, Vol 33, Iss 1, Pp 1-8 (2023)

Résumé Introduction Le gène Nicotinamide Nucleotide Transhydrogenase (NNT) a été récemment impliqué dans l’Insuffisance Surrénalienne Primaire (ISP). Il code pour une protéine de la membrane mitochondriale interne qui produit de fortes qua

Externí odkaz: https://doaj.org/article/401208301cb64ff5aa00ebfc171652ec

Sperm cryopreservation in young males with congenital adrenal hyperplasia (CAH)

Autor: Taous Chougar, Moussa Laanani, Lucile Ferreux, Céline Chalas, Jean‐Philippe Wolf, Jérôme Bertherat, Claire Bouvattier, Michel Polak, Anne Bachelot, Jérôme Dulon, Philippe Touraine, Catherine Patrat, Véronique Drouineaud

Publikováno v: Clinical Endocrinology. 97:860-862

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f857549227b0807d674e8a4a6783eb15
https://doi.org/10.1111/cen.14792

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 Syndrome

Autor: Catherine Patrat, Patrick Lorès, Laurence Stouvenel, Marjorie Whitfield, Zine-Eddine Kherraf, Pierre F. Ray, Amir Amiri-Yekta, Raoudha Zouari, Caroline Cazin, Selima Fourati Ben Mustapha, Emma Cavarocchi, Christophe Arnoult, Seyedeh-Hanieh Hosseini, Aminata Touré, Marie-Astrid Llabador, Abbas Daneshipour, Lucile Ferreux, Charles Coutton, Nicolas Thierry-Mieg, Emmanuel Dulioust

Publikováno v: Human Genetics
Human Genetics, 2021, 140 (7), pp.1031-1043. ⟨10.1007/s00439-021-02270-7⟩
Human Genetics, Springer Verlag, 2021, 140 (7), pp.1031-1043. ⟨10.1007/s00439-021-02270-7⟩

International audience; Cilia and flagella are formed around an evolutionary conserved microtubule-based axoneme and are required for fluid and mucus clearance, tissue homeostasis, cell differentiation and movement. The formation and maintenance of c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5985f27ab7061d824c5749432dde7e2
https://hal.science/hal-03369854

Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum

Autor: Laurence Stouvenel, Alain Schmitt, Mathilde Bourdon, Emmanuel Dulioust, Lucile Ferreux, Aminata Touré, Khaled Pocate-Cheriet, Pietro Santulli, Ahmed Chargui, Catherine Patrat, Pierre F. Ray, Johanna Lousqui, Patrick Lorès

Publikováno v: Human reproduction (Oxford, England). 36(11)

STUDY QUESTION Are ICSI outcomes impaired in cases of severe asthenozoospermia with multiple morphological abnormalities of the flagellum (MMAF phenotype)? SUMMARY ANSWER Despite occasional technical difficulties, ICSI outcomes for couples with MMAF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::448749badceb45a73a0771b225e7a671
https://pubmed.ncbi.nlm.nih.gov/34529793

Liste des auteurs

Autor: Elodie, Adda-Herzog, Louise, Adjiman, Naouel, Ahdad-Yata, Sylvia, Alvarez, Jean-Marie, Antoine, Christophe, Arnoult, Paul, Atlan, Jean-Marc, Ayoubi, Paul, Barrière, Alexandre, Bellucci, Achraf, Benammar, Marion, Bendayan, Moncef, Benkhalifa, Valérie, Bernard, Florence, Boitrelle, Corrine, Bordonné, Philippe, Bouchard, Yasmine, Boumerdassi, Charlotte, Bourdin, Mathilde, Bourdon, Rosalie, Cabry, Perrine, Capmas, Marie, Carbonnel, Isabelle, Cedrin-Durnerin, Charles, Chapron, Ahmed, Chargui, Sophie, Christin-Maitre, Jocelyne, De Laveaucoupet, Dominique, de Ziegler, Elodie, Debras, Christine, Decanter, Jacques, Demouzon, Didier, Dewailly, Gauthier, Dietrich, Ludovic, Dumont, Sylvie, Epelboin, Florence, Eustache, Marc, Even, Renato, Fanchin, Patricia, Fauque, Stéphanie, Fay, Aurélie, Feraille, Hervé, Fernandez, Xavier, Ferraretto, Lucile, Ferreux, Meriem, Filali, Julie, Firmin, Muriel, Flis-Trèves, Camille, Fossard, Thomas, Freour, René, Frydman, Michael, Grynberg, Camille, Grysole, Véronique, Guegan, Samir, Hamamah, Estelle, Heggarty, Hesters, Laetitia, Vincent, Izard, Laetitia, Jacquesson, Margaux, Jegaden, Léa, Karpel, Julie, Labrosse, Tatiana, Lecot-Connan, Elodie, Lefranc, Hélène, Letur, Jean-Marc, Levaillant, Marie-Astrid, Llabador, Noureddine, Louanjli, Sophie, Loubersac, Chloé, Maignien, Moudou, Mamoune Mbaye, Louis, Marcellin, Nathalie, Massin, d'Argent Emmanuelle, Mathieu, Marie-Laure, Maurin, Anne, Mayeur, Charlotte, Methorst, Anne Élodie, Millischer, Pierre, Miron, Debbie, Montjean, Arnold, Munnich, Jana, Muroňová, François, Olivennes, Anne, Oppenheimer, Catherine, Patrat, Sarah, Peyrelevade, Olivier, Pirrello, Paul, Pirtea, Khaled, Pocate-Cheriet, Xavier, Pollet-Villard, Marine, Poulain, Anne-Gaëlle, Pourcelot, Julien, Puntonet, Pierre, Ray, Arnaud, Reignier, Virginie, Rio, Nathalie, Rives, Catherine, Rongières, Pietro, Santulli, Inès, Sellami, Lise, Selleret, Christophe, Sifer, Charlotte, Sonigo, Julie, Steffann, Myriam, Szejer, Charles, Tibi, Jessica, Vandame, Yves, Ville, Jonathan, Zerbib, Achour-Frydman, Nelly, Alter, Laura, Hoffet, Aurélie Amar, Avril, Catherine, Belaisch-Allart, Joëlle, Belhadrie-Mansouri, Naima, Bergere, Marianne, Boistot, Lucile, Boyer, Pierre, Brugnon, Florence, Catteau, Aurore, Chauffour, Candice, Celton, Noémie, Copin, Henri, Dejou-Bouillet, Lydie, Deutsch-Bringer, Sophie, Devaux, Aviva, Dolto, Catherine, Dumont, Martine, Duros, Solène, Ferraretto, Xavier, Ferretti, Caterina, Gayet, Vanessa, Gervoise-Boyer, Marie, Giguère, Claudie, Gremeau, Anne-Sophie, Gronier, Héloïse, Guérin, Jean-François, Haouzi, Delphine, Hédon, Bernard, Hugues, Jean-Noël, Janny, Laurent, Kadoch, Isaac-Jacques, Le Bras-Mayeur, Anne, Lédée, Nathalie, Lemoine, Mathilde, Lévy, Rachel, de Royer, Marie-Astrid Llabador, Lornage, Jacqueline, Lubin, Vanessa, Marzouk, Paul, Merviel, Philippe, Mestres, Stéphanie, Molina-Gomes, Denise, Montagut, Jacques, Nataf, Eric, Oger, Pierre, Pouly, Jean-Luc, Rayssiguier, Romy, Rossin, Betty, Salle, Bruno, Scalici, Elodie, Selva, Jacqueline, Siraudin, Cendrine, Splingart, Carole, Torre, Antoine, Valière, Martine, Vialard, François, Vinolas, Claire, Yazbeck, Chadi

Publikováno v: In Infertilité Edition: Second Edition. 2023:xi-xvii