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Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation
hal.structure.identifier | Pathologies, Imagerie et Biothérapies oro-faciales [EA 2496] | |
dc.contributor.author | BARDET, Claire | |
hal.structure.identifier | Service d'Odontologie [Bretonneau] | |
hal.structure.identifier | Centre National de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore | |
dc.contributor.author | COURSON, Frédéric | |
hal.structure.identifier | Pathologies, Imagerie et Biothérapies oro-faciales [EA 2496] | |
dc.contributor.author | WU, Yong | |
hal.structure.identifier | Pathologies, Imagerie et Biothérapies oro-faciales [EA 2496] | |
dc.contributor.author | KHADDAM, Mayssam | |
hal.structure.identifier | Pathologies, Imagerie et Biothérapies oro-faciales [EA 2496] | |
hal.structure.identifier | Service d'Odontologie [Bretonneau] | |
hal.structure.identifier | Centre National de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore | |
dc.contributor.author | SALMON, Benjamin | |
hal.structure.identifier | Pathologies, Imagerie et Biothérapies oro-faciales [EA 2496] | |
dc.contributor.author | RIBES, Sandy | |
dc.contributor.author | THUMFART, Julia | |
dc.contributor.author | YAMAGUTI, Paulo M | |
hal.structure.identifier | Pathologies, Imagerie et Biothérapies oro-faciales [EA 2496] | |
dc.contributor.author | ROCHEFORT, Gael Y | |
hal.structure.identifier | Centre de Recherche des Cordeliers [CRC] | |
dc.contributor.author | FIGUERES, Marie-Lucile | |
dc.contributor.author | BREIDERHOFF, Tilman | |
dc.contributor.author | GARCIA-CASTAÑO, Alejandro | |
dc.contributor.author | VALLÉE, Benoit | |
hal.structure.identifier | Pathologies, Imagerie et Biothérapies oro-faciales [EA 2496] | |
dc.contributor.author | LE DENMAT, Dominique | |
hal.structure.identifier | Pathologies, Imagerie et Biothérapies oro-faciales [EA 2496] | |
dc.contributor.author | BAROUKH, Brigitte | |
hal.structure.identifier | Institut Cochin [IC UM3 (UMR 8104 / U1016)] | |
dc.contributor.author | GUILBERT, Thomas | |
hal.structure.identifier | Institut Cochin [IC UM3 (UMR 8104 / U1016)] | |
dc.contributor.author | SCHMITT, Alain | |
hal.structure.identifier | Institut Cochin [IC UM3 (UMR 8104 / U1016)] | |
dc.contributor.author | MASSÉ, Jean-Marc | |
hal.structure.identifier | Laboratoire de Physique des Solides [LPS] | |
hal.structure.identifier | Spectroscopie, Modélisation, Interfaces pour L'Environnement et la Santé [SMiLES] | |
dc.contributor.author | BAZIN, Dominique | |
dc.contributor.author | LORENZ, Georg | |
dc.contributor.author | MORAWIETZ, Maria | |
dc.contributor.author | HOU, Jianghui | |
dc.contributor.author | CARVALHO-LOBATO, Patricia | |
dc.contributor.author | MANZANARES, Maria Cristina | |
hal.structure.identifier | Bioingénierie tissulaire [BIOTIS] | |
dc.contributor.author | FRICAIN, Jean-Christophe | |
hal.structure.identifier | Département de pédiatrie | |
dc.contributor.author | TALMUD, Deborah | |
hal.structure.identifier | Group Hospitalier public Sud Oise GHPSO (Creil) | |
dc.contributor.author | DEMONTIS, Renato | |
dc.contributor.author | NEVES, Francisco | |
hal.structure.identifier | Service de pédiatrie générale | |
dc.contributor.author | ZENATY, Delphine | |
hal.structure.identifier | Centre de Recherche des Cordeliers [CRC] | |
dc.contributor.author | BERDAL, Ariane | |
dc.contributor.author | KIESOW, Andreas | |
dc.contributor.author | PETZOLD, Matthias | |
dc.contributor.author | MENASHI, Suzanne | |
dc.contributor.author | LINGLART, Agnes | |
dc.contributor.author | ACEVEDO, Ana Carolina | |
dc.contributor.author | VARGAS-POUSSOU, Rosa | |
hal.structure.identifier | Centre de Recherche des Cordeliers [CRC] | |
dc.contributor.author | MÜLLER, Dominik | |
hal.structure.identifier | Centre de Recherche des Cordeliers [CRC] | |
dc.contributor.author | HOUILLIER, Pascal | |
hal.structure.identifier | Pathologies, Imagerie et Biothérapies oro-faciales [EA 2496] | |
hal.structure.identifier | Service d'Odontologie [Bretonneau] | |
hal.structure.identifier | Centre National de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore | |
dc.contributor.author | CHAUSSAIN, Catherine | |
dc.date.accessioned | 2021-06-10T07:05:47Z | |
dc.date.available | 2021-06-10T07:05:47Z | |
dc.date.issued | 2015-10 | |
dc.identifier.issn | 0884-0431 | |
dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/79043 | |
dc.description.abstractEn | 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. © 2015 American Society for Bone and Mineral Research. | |
dc.language.iso | en | |
dc.publisher | American Society for Bone and Mineral Research | |
dc.title.en | Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation | |
dc.type | Article de revue | |
dc.identifier.doi | 10.1002/jbmr.2726 | |
dc.subject.hal | Sciences du Vivant [q-bio]/Médecine humaine et pathologie | |
bordeaux.journal | Journal of Bone and Mineral Research | |
bordeaux.page | 498–513 | |
bordeaux.volume | 31 | |
bordeaux.hal.laboratories | Bioingénierie Tissulaire (BioTis) - U1026 | * |
bordeaux.issue | 3 | |
bordeaux.institution | CNRS | |
bordeaux.institution | INSERM | |
bordeaux.institution | CHU de Bordeaux | |
bordeaux.institution | Institut Bergonié | |
bordeaux.peerReviewed | oui | |
hal.identifier | hal-01286223 | |
hal.version | 1 | |
hal.origin.link | https://hal.archives-ouvertes.fr//hal-01286223v1 | |
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