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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Portnoi, Marie-France; Dumargne, Marie-Charlotte; Rojo, Sandra; Witchel, Selma F; Duncan, Andrew J; Eozenou, Caroline; Bignon-Topalovic, Joelle; Yatsenko, Svetlana A; Rajkovic, Aleksandar; Reyes-Mugica, Miguel; Almstrup, Kristian; Fusee, Leila; Srivastava, Yogesh; Chantot-Bastaraud, Sandra; Hyon, Capucine; Louis-Sylvestre, Christine; Validire, Pierre; de Malleray Pichard, Caroline; Ravel, Celia; Christin-Maitre, Sophie; Brauner, Raja; Rossetti, Raffaella; Persani, Luca; Charreau, Eduardo H; Dain, Liliana; Chiauzzi, Violeta A; Mazen, Inas; Rouba, Hassan; Schluth-Bolard, Caroline; MacGowan, Stuart; McLean, W H Irwin; Patin, Etienne; Rajpert-De Meyts, Ewa; Jauch, Ralf; Achermann, John C; Siffroi, Jean-Pierre; McElreavey, Ken; Bashamboo, Anu.
Afiliação
  • Portnoi MF; APHP Département de Génétique Médicale, Hôpital Armand Trousseau, Paris 75012, France.
  • Dumargne MC; UPMC, University Paris 06, INSERM UMR_S933, Hôpital Armand Trousseau, Paris 75012, France.
  • Rojo S; Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris 75724, France.
  • Witchel SF; Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris 75724, France.
  • Duncan AJ; Division of Pediatric Endocrinology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
  • Eozenou C; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
  • Bignon-Topalovic J; Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris 75724, France.
  • Yatsenko SA; Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris 75724, France.
  • Rajkovic A; Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Women's Research Institute.
  • Reyes-Mugica M; Department of Human Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
  • Almstrup K; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
  • Fusee L; Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Women's Research Institute.
  • Srivastava Y; Department of Human Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
  • Chantot-Bastaraud S; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
  • Hyon C; Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Women's Research Institute.
  • Louis-Sylvestre C; Department of Human Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
  • Validire P; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
  • de Malleray Pichard C; University Department of Growth and Reproduction, Rigshospitalet, DK-2100 Copenhagen, Denmark.
  • Ravel C; Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris 75724, France.
  • Christin-Maitre S; Genome Regulation Laboratory, Drug Discovery Pipeline, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.
  • Brauner R; Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.
  • Rossetti R; Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.
  • Persani L; APHP Département de Génétique Médicale, Hôpital Armand Trousseau, Paris 75012, France.
  • Charreau EH; UPMC, University Paris 06, INSERM UMR_S933, Hôpital Armand Trousseau, Paris 75012, France.
  • Dain L; APHP Département de Génétique Médicale, Hôpital Armand Trousseau, Paris 75012, France.
  • Chiauzzi VA; UPMC, University Paris 06, INSERM UMR_S933, Hôpital Armand Trousseau, Paris 75012, France.
  • Mazen I; Département Mère-Enfant, Institut Mutualiste Montsouris, Paris 75014, France.
  • Rouba H; Département d'Anatomie Pathologique, Institut Mutualiste Montsouris, Paris 75014, France.
  • Schluth-Bolard C; Service d'Endocrinologie, Hôpital Cochin, Paris, France.
  • MacGowan S; Biology of Reproduction, CHU Rennes, Rennes 35033, France.
  • McLean WHI; UPMC, University Paris 06, INSERM UMR_S933, Hôpital Armand Trousseau, Paris 75012, France.
  • Patin E; Service d'Endocrinologie, Diabétologie et Endocrinologie de la Reproduction, Hôpital Saint-Antoine, Paris 75012, France.
  • Rajpert-De Meyts E; Université Paris Descartes and Pediatric Endocrinology Unit, Fondation Ophtalmologique Adolphe de Rothschild, Paris 75019, France.
  • Jauch R; Department of Clinical Sciences & Community Health, University of Milan, Milan 20122, Italy.
  • Achermann JC; Laboratory of Endocrine & Metabolic Research and Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy.
  • Siffroi JP; Department of Clinical Sciences & Community Health, University of Milan, Milan 20122, Italy.
  • McElreavey K; Laboratory of Endocrine & Metabolic Research and Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy.
  • Bashamboo A; Centro Nacional de Genética Médica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) Dr. Carlos G. Malbrán, Buenos Aires C1428ADN, Argentina.
Hum Mol Genet ; 27(7): 1228-1240, 2018 04 01.
Article em En | MEDLINE | ID: mdl-29373757
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligospermia / Insuficiência Ovariana Primária / Mutação de Sentido Incorreto / Fatores de Transcrição SOXE / Transtornos 46, XX do Desenvolvimento Sexual / Transtorno 46,XY do Desenvolvimento Sexual Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligospermia / Insuficiência Ovariana Primária / Mutação de Sentido Incorreto / Fatores de Transcrição SOXE / Transtornos 46, XX do Desenvolvimento Sexual / Transtorno 46,XY do Desenvolvimento Sexual Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido