Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa

Autor: Cazin, Caroline, Boumerdassi, Yasmine, Martinez, Guillaume, Fourati Ben Mustapha, Selima, Whitfield, Marjorie, Coutton, Charles, Thierry-Mieg, Nicolas, Di Pizio, Pierre, Rives, Nathalie, Arnoult, Christophe, Touré, Aminata, Ray, Pierre, Zouari, Raoudha, Sifer, Christophe, Kherraf, Zine-Eddine

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (4), pp.2187. ⟨10.3390/ijms22042187⟩
International Journal of Molecular Sciences, 2021, 22 (4), pp.2187. ⟨10.3390/ijms22042187⟩
International Journal of Molecular Sciences, Vol 22, Iss 2187, p 2187 (2021)
Volume 22
Issue 4

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://explore.openaire.eu/search/publication?articleId=pmid_dedup__::24d6f3428461083abcc05391999a7577
https://hal.archives-ouvertes.fr/hal-03365058/file/ijms-22-02187-v2.pdf

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice

Autor: Christou‐Kent, Marie, Kherraf, Zine‐Eddine, Amiri‐Yekta, Amir, Le Blévec, Emilie, Karaouzène, Thomas, Conne, Béatrice, Escoffier, Jessica, Assou, Said, Guttin, Audrey, Lambert, Emeline, Martinez, Guillaume, Boguenet, Magalie, Fourati Ben Mustapha, Selima, Cedrin Durnerin, Isabelle, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Coutton, Charles, Thierry‐Mieg, Nicolas, Nef, Serge, Bottari, Serge P, Zouari, Raoudha, Issartel, Jean Paul, Ray, Pierre F, Arnoult, Christophe

Publikováno v: EMBO Molecular Medicine, Vol. 10, No 5 (2018) pp. 459-66
EMBO Molecular Medicine
EMBO Molecular Medicine, 2018, 10 (5), pp.e8515. ⟨10.15252/emmm.201708515⟩
EMBO Molecular Medicine, Wiley Open Access, 2018, 10 (5), pp.e8515. ⟨10.15252/emmm.201708515⟩
EMBO Molecular Medicine, Vol 10, Iss 5, Pp n/a-n/a (2018)

International audience; The genetic causes of oocyte meiotic deficiency (OMD), a form of primary infertility characterised by the production of immature oocytes, remain largely unexplored. Using whole exome sequencing, we found that 26% of a cohort o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a81b2fc548206a292550a7a6c70cdd60
https://archive-ouverte.unige.ch/unige:109588

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.

Autor: Martinez, Guillaume, Kherraf, Zine-Eddine, Zouari, Raoudha, Mustapha, Selima Fourati Ben, Saut, Antoine, Pernet-Gallay, Karin, Bertrand, Anne, Bidart, Marie, Hograindleur, Jean Pascal, Amiri-Yekta, Amir, Fourati Ben Mustapha, Selima, Kharouf, Mahmoud, Karaouzène, Thomas, Thierry-Mieg, Nicolas, Dacheux-Deschamps, Denis, Satre, Véronique, Bonhivers, Mélanie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F

Publikováno v: Human Reproduction; Oct2018, Vol. 33 Issue 10, p1973-1984, 12p, 3 Black and White Photographs, 2 Charts, 1 Graph

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.

Autor: Kherraf, Zine-Eddine^1,2 (AUTHOR), Cazin, Caroline^1,2,3 (AUTHOR), Bouker, Amine⁴ (AUTHOR), Fourati Ben Mustapha, Selima⁴ (AUTHOR), Hennebicq, Sylviane^1,5 (AUTHOR), Septier, Amandine⁶ (AUTHOR), Coutton, Charles^1,7 (AUTHOR), Raymond, Laure³ (AUTHOR), Nouchy, Marc³ (AUTHOR), Thierry-Mieg, Nicolas⁶ (AUTHOR), Zouari, Raoudha⁴ (AUTHOR), Arnoult, Christophe¹ (AUTHOR), Ray, Pierre F.^1,2 (AUTHOR) pray@chu-grenoble.fr

Publikováno v: American Journal of Human Genetics. Mar2022, Vol. 109 Issue 3, p508-517. 10p.

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.

Autor: Coutton, Charles^1,2 ccoutton@chu-grenoble.fr, Martinez, Guillaume^1,2, Kherraf, Zine-Eddine^1,3, Amiri-Yekta, Amir^1,3,4, Boguenet, Magalie¹, Saut, Antoine¹, He, Xiaojin⁵, Zhang, Feng⁶, Cristou-Kent, Marie¹, Escoffier, Jessica¹, Bidart, Marie⁷, Satre, Véronique^1,2, Conne, Béatrice⁸, Fourati Ben Mustapha, Selima⁹, Halouani, Lazhar⁹, Marrakchi, Ouafi⁹, Makni, Mounir⁹, Latrous, Habib⁹, Kharouf, Mahmoud⁹, Pernet-Gallay, Karin¹⁰

Publikováno v: American Journal of Human Genetics. Feb2019, Vol. 104 Issue 2, p331-340. 10p.