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Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
Bardet, Claire; Courson, Frédéric; Wu, Yong; Khaddam, Mayssam; Salmon, Benjamin; Ribes, Sandy; Thumfart, Julia; Yamaguti, Paulo M; Rochefort, Gael Y; Figueres, Marie-Lucile; Breiderhoff, Tilman; Garcia-Castaño, Alejandro; Vallée, Benoit; Le Denmat, Dominique; Baroukh, Brigitte; Guilbert, Thomas; Schmitt, Alain; Massé, Jean-Marc; Bazin, Dominique; Lorenz, Georg; Morawietz, Maria; Hou, Jianghui; Carvalho-Lobato, Patricia; Manzanares, Maria Cristina; Fricain, Jean-Christophe; Talmud, Deborah; Demontis, Renato; Neves, Francisco; Zenaty, Delphine; Berdal, Ariane; Kiesow, Andreas; Petzold, Matthias; Menashi, Suzanne; Linglart, Agnes; Acevedo, Ana Carolina; Vargas-Poussou, Rosa; Müller, Dominik; Houillier, Pascal; Chaussain, Catherine.
Afiliação
  • Bardet C; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School Paris Descartes University, Sorbonne Paris Cité, France.
  • Courson F; Department of Odontology, AP-HP, and Reference Center for Rare Diseases of the Metabolism of Calcium and Phosphorus, Nord Val de Seine Hospital, Bretonneau, France.
  • Wu Y; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School Paris Descartes University, Sorbonne Paris Cité, France.
  • Khaddam M; Department of Oral and Cranio-maxillofacial Science, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Key Laboratory of Stomatology, Shanghai, China.
  • Salmon B; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School Paris Descartes University, Sorbonne Paris Cité, France.
  • Ribes S; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School Paris Descartes University, Sorbonne Paris Cité, France.
  • Thumfart J; Department of Odontology, AP-HP, and Reference Center for Rare Diseases of the Metabolism of Calcium and Phosphorus, Nord Val de Seine Hospital, Bretonneau, France.
  • Yamaguti PM; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School Paris Descartes University, Sorbonne Paris Cité, France.
  • Rochefort GY; Department of Pediatric Nephrology, Charité University School of Medicine, Berlin, Germany.
  • Figueres ML; Division of Dentistry, Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Faculty of Health Sciences, University of Brasilia (UnB), Brasilia, Brazil.
  • Breiderhoff T; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School Paris Descartes University, Sorbonne Paris Cité, France.
  • Garcia-Castaño A; INSERM UMRS 1138, Cordeliers Research Center, Paris-Diderot, Pierre et Marie Curie and Paris Descartes Universities, CNRS ERL 8228, Paris, France.
  • Vallée B; Department of Pediatric Nephrology, Charité University School of Medicine, Berlin, Germany.
  • Le Denmat D; Department of Genetics, AP-HP, and Reference Center of Children and Adult Renal Hereditary Diseases (MARHEA), European Hospital Georges Pompidou, Paris, France.
  • Baroukh B; Laboratory CRRET, Paris-Est University, CNRS, Créteil, France.
  • Guilbert T; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School Paris Descartes University, Sorbonne Paris Cité, France.
  • Schmitt A; EA 2496, Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School Paris Descartes University, Sorbonne Paris Cité, France.
  • Massé JM; Cochin Institute, Plate-Forme d'Imagerie Photonique, INSERM U1016, CNRS UMR8104, Paris Descartes University Sorbonne Paris Cité, Paris, France.
  • Bazin D; Cochin Institute, Transmission Electron Microscopy Platform, INSERM U1016, CNRS UMR8104, Paris Descartes University Sorbonne Paris Cité, Paris, France.
  • Lorenz G; Cochin Institute, Transmission Electron Microscopy Platform, INSERM U1016, CNRS UMR8104, Paris Descartes University Sorbonne Paris Cité, Paris, France.
  • Morawietz M; Laboratoire de Physique des Solides, CNRS, Paris Sud University, Orsay, and LCMCP-UPMC, Collège de France, Paris, France.
  • Hou J; Fraunhofer Institute for Mechanics of Materials IWM, Halle, Germany.
  • Carvalho-Lobato P; Fraunhofer Institute for Mechanics of Materials IWM, Halle, Germany.
  • Manzanares MC; Division of Renal Diseases, Washington University School of Medicine, St. Louis, MO, USA.
  • Fricain JC; Human Anatomy and Embryology, Health University of Barcelona Campus-Bellvitge, University of Barcelona, Barcelona, Spain.
  • Talmud D; Human Anatomy and Embryology, Health University of Barcelona Campus-Bellvitge, University of Barcelona, Barcelona, Spain.
  • Demontis R; CHU Bordeaux, Dental School, U1026 Tissue Bioengineering, University of Bordeaux/Inserm, Bordeaux, France.
  • Neves F; Department of Pediatrics, Centre Hospitalier Régional (CHR) d'Orléans, Orleans, France.
  • Zenaty D; GHPSO, Creil, France.
  • Berdal A; Laboratory of Molecular Pharmacology, Faculty of Health Sciences, University of Brasilia (UNB), Brasilia, Brazil.
  • Kiesow A; Department of Pediatric Endocrinology, AP-HP, Paris Diderot University, Robert Debré Hospital, Paris, France.
  • Petzold M; INSERM UMRS 1138, Cordeliers Research Center, Paris-Diderot, Pierre et Marie Curie and Paris Descartes Universities, CNRS ERL 8228, Paris, France.
  • Menashi S; Fraunhofer Institute for Mechanics of Materials IWM, Halle, Germany.
  • Linglart A; Fraunhofer Institute for Mechanics of Materials IWM, Halle, Germany.
  • Acevedo AC; Laboratory CRRET, Paris-Est University, CNRS, Créteil, France.
  • Vargas-Poussou R; Department of Pediatric Endocrinology, AP-HP, Paris Sud University, School of Medicine, and Reference Center for Rare Diseases of the Metabolism of Calcium and Phosphorus, Paris, France.
  • Müller D; Division of Dentistry, Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Faculty of Health Sciences, University of Brasilia (UnB), Brasilia, Brazil.
  • Houillier P; Department of Genetics, AP-HP, and Reference Center of Children and Adult Renal Hereditary Diseases (MARHEA), European Hospital Georges Pompidou, Paris, France.
  • Chaussain C; Department of Pediatric Nephrology, Charité University School of Medicine, Berlin, Germany.
J Bone Miner Res ; 31(3): 498-513, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26426912
ABSTRACT
Claudin-16 protein (CLDN16) is a component of tight junctions (TJ) with a restrictive distribution so far demonstrated mainly in the kidney. Here, we demonstrate the expression of CLDN16 also in the tooth germ and show that claudin-16 gene (CLDN16) mutations result in amelogenesis imperfecta (AI) in the 5 studied patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). To investigate the role of CLDN16 in tooth formation, we studied a murine model of FHHNC and showed that CLDN16 deficiency led to altered secretory ameloblast TJ structure, lowering of extracellular pH in the forming enamel matrix, and abnormal enamel matrix protein processing, resulting in an enamel phenotype closely resembling human AI. This study unravels an association of FHHNC owing to CLDN16 mutations with AI, which is directly related to the loss of function of CLDN16 during amelogenesis. Overall, this study indicates for the first time the importance of a TJ protein in tooth formation and underlines the need to establish a specific dental follow-up for these patients.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Junções Íntimas / Esmalte Dentário / Claudinas / Ameloblastos Limite: Adult / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Junções Íntimas / Esmalte Dentário / Claudinas / Ameloblastos Limite: Adult / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França