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

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

Autor: Charles Coutton, Alexandra S. Vargas, Amir Amiri-Yekta, Zine-Eddine Kherraf, Selima Fourati Ben Mustapha, Pauline Le Tanno, Clémentine Wambergue-Legrand, Thomas Karaouzène, Guillaume Martinez, Serge Crouzy, Abbas Daneshipour, Seyedeh Hanieh Hosseini, Valérie Mitchell, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Jean-François Deleuze, Anne Boland, Sylviane Hennebicq, Véronique Satre, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Beatrice Conne, Denis Dacheux, Nicolas Landrein, Alain Schmitt, Laurence Stouvenel, Patrick Lorès, Elma El Khouri, Serge P. Bottari, Julien Fauré, Jean-Philippe Wolf, Karin Pernet-Gallay, Jessica Escoffier, Hamid Gourabi, Derrick R. Robinson, Serge Nef, Emmanuel Dulioust, Raoudha Zouari, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F. Ray

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-18 (2018)

Asthenozoospermia is a major cause of male infertility, and multiple morphological abnormalities of the flagella (MMAF) is a particularly severe form. Here, using whole-exome sequencing of 78 MMAF patients, the authors identify mutations in two WDR p

Externí odkaz: https://doaj.org/article/03b883f351d94cb6999191bf43221e62

Assisted reproductive technology outcomes in women with a chronic viral disease

Autor: Chloé Maignien, Pietro Santulli, Louis Marcellin, Khaled Pocate Cheriet, Odile Launay, Catherine Patrat, Emmanuel Dulioust, Charles Chapron, Mathilde Bourdon, Alicia Garnier, Philippe Sogni

Publikováno v: AIDS. 35:1073-1081

Objective The aim of this study was to evaluate the cumulative live birth rate in women undergoing in-vitro fertilization/intracytoplasmic-sperm-injection (IVF/ICSI) according to the type of chronic viral infection [HIV, hepatitis-B virus (HBV) and h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::982aad280fee9fc304f6c873b9654160
https://doi.org/10.1097/qad.0000000000002859

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

The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility

Autor: Nicolas Thierry-Mieg, Emma Cavarocchi, Catherine Patrat, Marjorie Whitfield, Patrick Lorès, Christophe Arnoult, Ahmed Chargui, Laurence Stouvenel, Pierre F. Ray, Charles Coutton, Aminata Touré, Emmanuel Dulioust, Pietro Santulli

Publikováno v: Clinical Genetics
Clinical Genetics, Wiley, 2021, 99 (5), pp.684-693. ⟨10.1111/cge.13927⟩
Clinical Genetics, 2021, 99 (5), pp.684-693. ⟨10.1111/cge.13927⟩

International audience; Asthenozoospermia, defined by the absence or reduction of sperm motility, constitutes the most frequent cause of human male infertility. This pathological condition is caused by morphological and/or functional defects of the s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d3d1e514d2c062b7edfe3cf0bc048b
https://pubmed.ncbi.nlm.nih.gov/33462806