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Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.
Daher, Raed; Kannengiesser, Caroline; Houamel, Dounia; Lefebvre, Thibaud; Bardou-Jacquet, Edouard; Ducrot, Nicolas; de Kerguenec, Caroline; Jouanolle, Anne-Marie; Robreau, Anne-Marie; Oudin, Claire; Le Gac, Gerald; Moulouel, Boualem; Loustaud-Ratti, Veronique; Bedossa, Pierre; Valla, Dominique; Gouya, Laurent; Beaumont, Carole; Brissot, Pierre; Puy, Hervé; Karim, Zoubida; Tchernitchko, Dimitri.
Afiliação
  • Daher R; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France.
  • Kannengiesser C; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France; AP-HP, Département de Génétique, Hôpital Bichat, Paris, France.
  • Houamel D; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France.
  • Lefebvre T; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France.
  • Bardou-Jacquet E; Department of Liver Disease and Molecular Genetics, CHU Rennes, Rennes, France.
  • Ducrot N; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France.
  • de Kerguenec C; AP-HP, Département d'Hépatologie, Hôpital Beaujon, Clichy, France.
  • Jouanolle AM; Department of Liver Disease and Molecular Genetics, CHU Rennes, Rennes, France; CHU Rennes, French Reference Center for Rare Iron Overload Diseases of Genetic Origin.
  • Robreau AM; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France.
  • Oudin C; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France.
  • Le Gac G; INSERM U1078, Université de Brest, CHRU de Brest, Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Bretagne, Brest, France.
  • Moulouel B; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France.
  • Loustaud-Ratti V; Service d'Hépato-Gastroentérologie, INSERM UMR1092, Limoges, France.
  • Bedossa P; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; AP-HP, Laboratoire d'Anatomo-Pathologie, Hôpital Beaujon, Clichy, France.
  • Valla D; AP-HP, Département d'Hépatologie, Hôpital Beaujon, Clichy, France.
  • Gouya L; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France.
  • Beaumont C; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France.
  • Brissot P; Department of Liver Disease and Molecular Genetics, CHU Rennes, Rennes, France.
  • Puy H; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France.
  • Karim Z; INSERM UMR1149, Centre de Recherche sur l'Inflammation, Paris, France; Université Paris Diderot, Site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France. Electronic address: zoubida.karim@inserm.fr.
  • Tchernitchko D; AP-HP, Département de Génétique, Hôpital Bichat, Paris, France.
Gastroenterology ; 150(3): 672-683.e4, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26582087
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Proteína Morfogenética Óssea 6 / Hepcidinas / Hemocromatose / Heterozigoto / Ferro / Fígado Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Aged / Animals / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Proteína Morfogenética Óssea 6 / Hepcidinas / Hemocromatose / Heterozigoto / Ferro / Fígado Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Aged / Animals / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article