Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Laurence Stouvenel"'
Autor:
Lorenzo Costa, Luis Bermudez-Guzman, Ikram Benouda, Paul Laissue, Adrien Morel, Karen Marcela Jiménez, Thierry Fournier, Laurence Stouvenel, Céline Méhats, Francisco Miralles, Daniel Vaiman
Publikováno v:
iScience, Vol 27, Iss 3, Pp 109260- (2024)
Summary: Preeclampsia is a major hypertensive pregnancy disorder with a 50% heritability. The first identified gene involved in the disease is STOX1, a transcription factor, whose variant Y153H predisposes to the disease. Two rare mutations were also
Externí odkaz:
https://doaj.org/article/b911a702ca1a4fb291a95d0fd611069d
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
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
Autor:
Marie-Sophie Girault, Sophie Dupuis, Côme Ialy-Radio, Laurence Stouvenel, Cécile Viollet, Rémi Pierre, Maryline Favier, Ahmed Ziyyat, Sandrine Barbaux
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 1959 (2021)
Thanks to the analysis of an Interspecific Recombinant Congenic Strain (IRCS), we previously defined the Mafq1 quantitative trait locus as an interval on mouse Chromosome 1 associated with male hypofertility and ultrastructural abnormalities. We iden
Externí odkaz:
https://doaj.org/article/1225c66aebc9439cbeefe215a01a15f5
Autor:
Emmanuel Dulioust, Pietro Santulli, Mathilde Bourdon, Laurence Stouvenel, Aminata Touré, K Pocate, Patrick Lorès, Ahmed Chargui, Lucile Ferreux, Pierre F. Ray, Alain Schmitt, Catherine Patrat, Johanna Lousqui
Publikováno v:
Human Reproduction. 36
Study question What are the feasibility and outcome of ICSI in case of presumably genetic severe asthenozoospermia with Multiple Morphological Abnormalities of the Flagellum (MMAF phenotype)? Summary answer ICSI outcome for couples with MMAF phenotyp
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⟩
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
https://hal.science/hal-03369854
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
Autor:
Marie-Sophie Girault, Cécile Viollet, Ahmed Ziyyat, Laurence Stouvenel, Rémi Pierre, Maryline Favier, Côme Ialy-Radio, Sophie Dupuis, Sandrine Barbaux
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 4
International Journal of Molecular Sciences, Vol 22, Iss 1959, p 1959 (2021)
Volume 22
Issue 4
International Journal of Molecular Sciences, Vol 22, Iss 1959, p 1959 (2021)
Thanks to the analysis of an Interspecific Recombinant Congenic Strain (IRCS), we previously defined the Mafq1 quantitative trait locus as an interval on mouse Chromosome 1 associated with male hypofertility and ultrastructural abnormalities. We iden
Autor:
Catherine Patrat, Patrick Lorès, Charles Coutton, Pierre F. Ray, Christophe Arnoult, Emma Cavarocchi, Aminata Touré, Ahmed Chargui, Marjorie Whitfield, Laurence Stouvenel, Pietro Santulli, Nicolas Thierry-Mieg, Emmanuel Dulioust
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb5c2011de38a382d6142bf227ecb299
https://doi.org/10.1111/cge.13927/v2/response1
https://doi.org/10.1111/cge.13927/v2/response1
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⟩
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