SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.

Kherraf, Zine-Eddine; Christou-Kent, Marie; Karaouzene, Thomas; Amiri-Yekta, Amir; Martinez, Guillaume; Vargas, Alexandra S; Lambert, Emeline; Borel, Christelle; Dorphin, Béatrice; Aknin-Seifer, Isabelle; Mitchell, Michael J; Metzler-Guillemain, Catherine; Escoffier, Jessica; Nef, Serge; Grepillat, Mariane; Thierry-Mieg, Nicolas; Satre, Véronique; Bailly, Marc; Boitrelle, Florence; Pernet-Gallay, Karin; Hennebicq, Sylviane; Fauré, Julien; Bottari, Serge P; Coutton, Charles; Ray, Pierre F; Arnoult, Christophe

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.

Kherraf, Zine-Eddine; Christou-Kent, Marie; Karaouzene, Thomas; Amiri-Yekta, Amir; Martinez, Guillaume; Vargas, Alexandra S; Lambert, Emeline; Borel, Christelle; Dorphin, Béatrice; Aknin-Seifer, Isabelle; Mitchell, Michael J; Metzler-Guillemain, Catherine; Escoffier, Jessica; Nef, Serge; Grepillat, Mariane; Thierry-Mieg, Nicolas; Satre, Véronique; Bailly, Marc; Boitrelle, Florence; Pernet-Gallay, Karin; Hennebicq, Sylviane; Fauré, Julien; Bottari, Serge P; Coutton, Charles; Ray, Pierre F; Arnoult, Christophe.

Afiliación

Kherraf ZE; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Christou-Kent M; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Karaouzene T; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Amiri-Yekta A; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Martinez G; CHU de Grenoble, UF de Biochimie Génétique et Moléculaire, Grenoble, France.
Vargas AS; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Lambert E; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Borel C; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Dorphin B; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Aknin-Seifer I; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 4, Switzerland.
Mitchell MJ; Laboratoire d'Aide Médicale à la Procréation, Centre AMP 74, Contamine-sur-Arve, France.
Metzler-Guillemain C; Laboratoire de Biologie de la Reproduction, Hôpital Nord, Saint Etienne, France.
Escoffier J; Aix Marseille Univ INSERM GMGF, Marseille, France.
Nef S; Aix Marseille Univ INSERM GMGF, Marseille, France.
Grepillat M; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Thierry-Mieg N; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 4, Switzerland.
Satre V; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Bailly M; Univ. Grenoble Alpes / CNRS, TIMC-IMAG, Grenoble, France.
Boitrelle F; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Pernet-Gallay K; CHU de Grenoble, UF de Génétique Chromosomique, Grenoble, France.
Hennebicq S; Department of Reproductive Biology and Gynaecology, Poissy General Hospital, Poissy, France.
Fauré J; EA 7404 GIG, Université de Versailles Saint Quentin Montigny le Bretonneux, France.
Bottari SP; Department of Reproductive Biology and Gynaecology, Poissy General Hospital, Poissy, France.
Coutton C; EA 7404 GIG, Université de Versailles Saint Quentin Montigny le Bretonneux, France.
Ray PF; Grenoble Neuroscience Institute, INSERM 1216, Grenoble, France.
Arnoult C; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.

EMBO Mol Med ; 9(8): 1132-1149, 2017 08.

Article en En | MEDLINE | ID: mdl-28554943

Asunto(s)

Astenozoospermia/genética; Astenozoospermia/fisiopatología; Azoospermia/genética; Azoospermia/fisiopatología; Glicoproteínas/deficiencia; Inhibidores de Serinpeptidasas Tipo Kazal/deficiencia; Animales; Modelos Animales de Enfermedad; Heterocigoto; Homocigoto; Masculino; Ratones; Ratones Noqueados

Palabras clave

azoospermia; exome sequencing; genetics; infertility; spermatogenesis

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Glicoproteínas / Astenozoospermia / Azoospermia / Inhibidores de Serinpeptidasas Tipo Kazal Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals Idioma: En Revista: EMBO Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2017 Tipo del documento: Article País de afiliación: Francia

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