Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Caroline Cazin"'
Autor:
Jana Muroňová, Zine Eddine Kherraf, Elsa Giordani, Emeline Lambert, Simon Eckert, Caroline Cazin, Amir Amiri-Yekta, Magali Court, Geneviève Chevalier, Guillaume Martinez, Yasmine Neirijnck, Francoise Kühne, Lydia Wehrli, Nikolai Klena, Virginie Hamel, Lisa De Macedo, Jessica Escoffier, Paul Guichard, Charles Coutton, Selima Fourati Ben Mustapha, Mahmoud Kharouf, Anne-Pacale Bouin, Raoudha Zouari, Nicolas Thierry-Mieg, Serge Nef, Stefan Geimer, Corinne Loeuillet, Pierre F Ray, Christophe Arnoult
Publikováno v:
eLife, Vol 12 (2024)
From a cohort of 167 infertile patients suffering from multiple morphological abnormalities of the flagellum (MMAF), pathogenic bi-allelic mutations were identified in the CCDC146 gene. In somatic cells, CCDC146 is located at the centrosome and at mu
Externí odkaz:
https://doaj.org/article/078af173188c4adb858332ae057a3a05
Autor:
Denis Dacheux, Guillaume Martinez, Christine E Broster Reix, Julie Beurois, Patrick Lores, Magamba Tounkara, Jean-William Dupuy, Derrick Roy Robinson, Corinne Loeuillet, Emeline Lambert, Zeina Wehbe, Jessica Escoffier, Amir Amiri-Yekta, Abbas Daneshipour, Seyedeh-Hanieh Hosseini, Raoudha Zouari, Selima Fourati Ben Mustapha, Lazhar Halouani, Xiaohui Jiang, Ying Shen, Chunyu Liu, Nicolas Thierry-Mieg, Amandine Septier, Marie Bidart, Véronique Satre, Caroline Cazin, Zine Eddine Kherraf, Christophe Arnoult, Pierre F Ray, Aminata Toure, Mélanie Bonhivers, Charles Coutton
Publikováno v:
eLife, Vol 12 (2023)
Male infertility is common and complex, presenting a wide range of heterogeneous phenotypes. Although about 50% of cases are estimated to have a genetic component, the underlying cause often remains undetermined. Here, from whole-exome sequencing on
Externí odkaz:
https://doaj.org/article/2b37a6175cab4e93a36110639ca35769
Autor:
Emma Cavarocchi, Camille Sayou, Patrick Lorès, Caroline Cazin, Laurence Stouvenel, Elma El Khouri, Charles Coutton, Zine-Eddine Kherraf, Catherine Patrat, Jérôme Govin, Nicolas Thierry-Mieg, Marjorie Whitfield, Pierre F. Ray, Emmanuel Dulioust, Aminata Touré
Publikováno v:
iScience, Vol 26, Iss 8, Pp 107354- (2023)
Summary: Sperm fertilization ability mainly relies on proper sperm progression through the female genital tract and capacitation, which involves phosphorylation signaling pathways triggered by calcium and bicarbonate. We performed exome sequencing of
Externí odkaz:
https://doaj.org/article/4849c1c8f2ce49cba28ea421e079c4d2
Autor:
Zine-Eddine Kherraf, Caroline Cazin, Florence Lestrade, Jana Muronova, Charles Coutton, Christophe Arnoult, Nicolas Thierry-Mieg, Pierre F Ray
Publikováno v:
Asian Journal of Andrology, Vol 24, Iss 3, Pp 243-247 (2022)
Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing (WES), many genes have now been linked to severe sperm defects. A precise genetic diagnosis is obtained for a minority of patients and only for the m
Externí odkaz:
https://doaj.org/article/485e1c403e484be88b93b73aab4bab74
Autor:
Guillaume Martinez, Charles Coutton, Corinne Loeuillet, Caroline Cazin, Jana Muroňová, Magalie Boguenet, Emeline Lambert, Magali Dhellemmes, Geneviève Chevalier, Jean-Pascal Hograindleur, Charline Vilpreux, Yasmine Neirijnck, Zine-Eddine Kherraf, Jessica Escoffier, Serge Nef, Pierre F Ray, Christophe Arnoult
Publikováno v:
eLife, Vol 11 (2022)
Male infertility is an important health concern that is expected to have a major genetic etiology. Although high-throughput sequencing has linked gene defects to more than 50% of rare and severe sperm anomalies, less than 20% of common and moderate f
Externí odkaz:
https://doaj.org/article/50542f6b588b43b1b940b0989e0ff1de
Autor:
Guillaume Martinez, Anne-Laure Barbotin, Caroline Cazin, Zeina Wehbe, Angèle Boursier, Amir Amiri-Yekta, Abbas Daneshipour, Seyedeh-Hanieh Hosseini, Nathalie Rives, Aurélie Feraille, Nicolas Thierry-Mieg, Marie Bidart, Véronique Satre, Christophe Arnoult, Pierre F. Ray, Zine-Eddine Kherraf, Charles Coutton
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2559 (2023)
Male infertility is a common and complex disease and presents as a wide range of heterogeneous phenotypes. Multiple morphological abnormalities of the sperm flagellum (MMAF) phenotype is a peculiar condition of extreme morphological sperm defects cha
Externí odkaz:
https://doaj.org/article/9d1caf3149cb4a28a25a6f4438afa3db
Autor:
Caroline Cazin, Yasmine Neirijnck, Corinne Loeuillet, Lydia Wehrli, Françoise Kühne, Isabelle Lordey, Selima Fourati Ben Mustapha, Amin Bouker, Raoudha Zouari, Nicolas Thierry-Mieg, Serge Nef, Christophe Arnoult, Pierre F. Ray, Zine-Eddine Kherraf
Publikováno v:
Cells, Vol 11, Iss 1, p 118 (2021)
The genetic landscape of male infertility is highly complex. It is estimated that at least 4000 genes are involved in human spermatogenesis, but only few have so far been extensively studied. In this study, we investigated by whole exome sequencing t
Externí odkaz:
https://doaj.org/article/cefaab1e590541ddbadfb7cc15ec9d6a
Autor:
Caroline Cazin, Yasmine Boumerdassi, Guillaume Martinez, Selima Fourati Ben Mustapha, Marjorie Whitfield, Charles Coutton, Nicolas Thierry-Mieg, Pierre Di Pizio, Nathalie Rives, Christophe Arnoult, Aminata Touré, Pierre F. Ray, Raoudha Zouari, Christophe Sifer, Zine-Eddine Kherraf
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 2187 (2021)
Acephalic spermatozoa syndrome (ASS) is a rare but extremely severe type of teratozoospermia, defined by the presence of a majority of headless flagella and a minority of tail-less sperm heads in the ejaculate. Like the other severe monomorphic terat
Externí odkaz:
https://doaj.org/article/9f8346bb6ae3439db1d9df6fff45725a
Autor:
Corinne Loeuillet, Magali Dhellemmes, Caroline Cazin, Zine‐Eddine Kherraf, Selima Fourati Ben Mustapha, Raoudha Zouari, Nicolas Thierry‐Mieg, Christophe Arnoult, Pierre F. Ray
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 102 (1), pp.22-29. ⟨10.1111/cge.14144⟩
Clinical Genetics, 2022, 102 (1), pp.22-29. ⟨10.1111/cge.14144⟩
International audience; A female factor is present in approximately 70% of couple infertility, often due to ovulatory disorders. In oocyte maturation defect (OMD), affected patients have a primary infertility with normal menstrual cycles but produce
Autor:
Alicia Coudert, Caroline Cazin, Amir Amiri-Yekta, Selima Fourati Ben Mustapha, Raoudha Zouari, Julien Bessonat, Abdelali Zoghmar, Antoine Clergeau, Catherine Metzler-Guillemain, Chema Triki, Hervé Lejeune, Nathalie Sermondade, Eva Pipiras, Nadia Prisant, Isabelle Cedrin, Isabelle Koscinski, Leila Keskes, Florence Lestrade, Laetitia Hesters, Nathalie Rives, Béatrice Dorphin, Agnes Guichet, Catherine Patrat, Emmanuel Dulioust, Aurélie Feraille, François Robert, Sophie Brouillet, Frédéric Morel, Aurore Perrin, Nathalie Rougier, Eric Bieth, Arthur Sorlin, Jean-Pierre Siffroi, Mariem Ben Khelifa, Florence Boiterelle, Sylvianne Hennebicq, Veronique Satre, Christophe Arnoult, Charles Coutton, Anne-Laure Barbotin, Nicolas Thierry-Mieg, Zine-Eddine Kherraf, Pierre F. Ray
Publikováno v:
Journal of Genetics and Genomics.