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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
Martinez, Guillaume; Beurois, Julie; Dacheux, Denis; Cazin, Caroline; Bidart, Marie; Kherraf, Zine-Eddine; Robinson, Derrick R; Satre, Véronique; Le Gac, Gerald; Ka, Chandran; Gourlaouen, Isabelle; Fichou, Yann; Petre, Graciane; Dulioust, Emmanuel; Zouari, Raoudha; Thierry-Mieg, Nicolas; Touré, Aminata; Arnoult, Christophe; Bonhivers, Mélanie; Ray, Pierre; Coutton, Charles.
Affiliation
  • Martinez G; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, France.
  • Beurois J; CHU Grenoble Alpes, UM de Génétique Chromosomique, Grenoble, France.
  • Dacheux D; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, France.
  • Cazin C; Université de Bordeaux, Microbiologie Fondamentale et Pathogénicité, CNRS UMR 5234, Bordeaux, France.
  • Bidart M; Institut Polytechnique de Bordeaux, Microbiologie Fondamentale et Pathogénicité, CNRS UMR 5234, Bordeaux, France.
  • Kherraf ZE; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, France.
  • Robinson DR; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, France.
  • Satre V; CHU Grenoble Alpes, Unité Médicale de Génétique Moléculaire : Maladies Héréditaires et Oncologie, Pôle Biologie, Institut de Biologie et de Pathologie, Grenoble, France.
  • Le Gac G; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, France.
  • Ka C; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France.
  • Gourlaouen I; Institut Polytechnique de Bordeaux, Microbiologie Fondamentale et Pathogénicité, CNRS UMR 5234, Bordeaux, France.
  • Fichou Y; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, France.
  • Petre G; CHU Grenoble Alpes, UM de Génétique Chromosomique, Grenoble, France.
  • Dulioust E; INSERM UMR1078, Université Bretagne Loire - Université de Brest, Etablissement Français du Sang - Bretagne, Institut Brestois Santé-Agro-Matière, Brest, France.
  • Zouari R; Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité, CHRU de Brest, Hôpital Morvan, Brest, France.
  • Thierry-Mieg N; INSERM UMR1078, Université Bretagne Loire - Université de Brest, Etablissement Français du Sang - Bretagne, Institut Brestois Santé-Agro-Matière, Brest, France.
  • Touré A; INSERM UMR1078, Université Bretagne Loire - Université de Brest, Etablissement Français du Sang - Bretagne, Institut Brestois Santé-Agro-Matière, Brest, France.
  • Arnoult C; INSERM UMR1078, Université Bretagne Loire - Université de Brest, Etablissement Français du Sang - Bretagne, Institut Brestois Santé-Agro-Matière, Brest, France.
  • Bonhivers M; INSERM U1205, UFR Chimie Biologie, Univ. Grenoble Alpes, Grenoble, France.
  • Ray P; Laboratoire d'Histologie Embryologie - Biologie de la Reproduction, GH Cochin Broca Hôtel Dieu, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Coutton C; Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France.
J Med Genet ; 57(10): 708-716, 2020 10.
Article in En | MEDLINE | ID: mdl-32161152
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Calcium-Binding Proteins / Carrier Proteins / Asthenozoospermia / Infertility, Male Type of study: Risk_factors_studies Limits: Animals / Humans / Male Language: En Journal: J Med Genet Year: 2020 Document type: Article Affiliation country: Francia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Calcium-Binding Proteins / Carrier Proteins / Asthenozoospermia / Infertility, Male Type of study: Risk_factors_studies Limits: Animals / Humans / Male Language: En Journal: J Med Genet Year: 2020 Document type: Article Affiliation country: Francia