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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Grampa, Valentina; Delous, Marion; Zaidan, Mohamad; Odye, Gweltas; Thomas, Sophie; Elkhartoufi, Nadia; Filhol, Emilie; Niel, Olivier; Silbermann, Flora; Lebreton, Corinne; Collardeau-Frachon, Sophie; Rouvet, Isabelle; Alessandri, Jean-Luc; Devisme, Louise; Dieux-Coeslier, Anne; Cordier, Marie-Pierre; Capri, Yline; Khung-Savatovsky, Suonavy; Sigaudy, Sabine; Salomon, Rémi; Antignac, Corinne; Gubler, Marie-Claire; Benmerah, Alexandre; Terzi, Fabiola; Attié-Bitach, Tania; Jeanpierre, Cécile; Saunier, Sophie.
Afiliação
  • Grampa V; INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France.
  • Delous M; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Zaidan M; INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France.
  • Odye G; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Thomas S; INSERM U1151, CNRS UMR8253, Paris Descartes-Sorbonne Paris Cité University, Necker-Enfants Malades Institute, Mechanisms and Therapeutic Strategies of Chronic Kidney Diseases, Necker Hospital, Paris, France.
  • Elkhartoufi N; INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France.
  • Filhol E; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Niel O; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Silbermann F; INSERM UMR1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris, France.
  • Lebreton C; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Collardeau-Frachon S; INSERM UMR1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris, France.
  • Rouvet I; Department of Genetics, AP-HP, Necker Hospital, Paris, France.
  • Alessandri JL; INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France.
  • Devisme L; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Dieux-Coeslier A; INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France.
  • Cordier MP; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Capri Y; Department of Pediatric Nephrology, AP-HP, Robert Debré Hospital, Paris, France.
  • Khung-Savatovsky S; INSERM UMR1163, Laboratory of Inherited Kidney Diseases, Necker-Enfants Malades Hospital, Paris, France.
  • Sigaudy S; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Salomon R; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Antignac C; INSERM UMR1163, Laboratory of Intestinal Immunity, Paris, France.
  • Gubler MC; Department of Pathology, Hospices Civils de Lyon, CHU de Lyon, Lyon, France.
  • Benmerah A; Cellular Biotechnology Department and Biobank, Hospices Civils de Lyon, CHU de Lyon, Lyon, France.
  • Terzi F; CHU de La Réunion Saint-Denis/Saint-Pierre, La Réunion, France.
  • Attié-Bitach T; Anatomopathological Department, CHRU Lille, University Hospital, Lille, France.
  • Jeanpierre C; Department of Clinical Genetics, CHRU Lille, Lille, France.
  • Saunier S; Department of Genetics, Femme Mère-Enfant Hospital, University of Lyon 1, Bron, France.
PLoS Genet ; 12(3): e1005894, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26967905
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Proteínas Quinases / Cílios / Proteínas Adaptadoras de Transdução de Sinal / Doenças Renais Policísticas Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Proteínas Quinases / Cílios / Proteínas Adaptadoras de Transdução de Sinal / Doenças Renais Policísticas Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos