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hal.structure.identifierPathologies, Imagerie et Biothérapies oro-faciales [EA 2496]
dc.contributor.authorBARDET, Claire
hal.structure.identifierService d'Odontologie [Bretonneau]
hal.structure.identifierCentre National de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore
dc.contributor.authorCOURSON, Frédéric
hal.structure.identifierPathologies, Imagerie et Biothérapies oro-faciales [EA 2496]
dc.contributor.authorWU, Yong
hal.structure.identifierPathologies, Imagerie et Biothérapies oro-faciales [EA 2496]
dc.contributor.authorKHADDAM, Mayssam
hal.structure.identifierPathologies, Imagerie et Biothérapies oro-faciales [EA 2496]
hal.structure.identifierService d'Odontologie [Bretonneau]
hal.structure.identifierCentre National de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore
dc.contributor.authorSALMON, Benjamin
hal.structure.identifierPathologies, Imagerie et Biothérapies oro-faciales [EA 2496]
dc.contributor.authorRIBES, Sandy
dc.contributor.authorTHUMFART, Julia
dc.contributor.authorYAMAGUTI, Paulo M
hal.structure.identifierPathologies, Imagerie et Biothérapies oro-faciales [EA 2496]
dc.contributor.authorROCHEFORT, Gael Y
hal.structure.identifierCentre de Recherche des Cordeliers [CRC]
dc.contributor.authorFIGUERES, Marie-Lucile
dc.contributor.authorBREIDERHOFF, Tilman
dc.contributor.authorGARCIA-CASTAÑO, Alejandro
dc.contributor.authorVALLÉE, Benoit
hal.structure.identifierPathologies, Imagerie et Biothérapies oro-faciales [EA 2496]
dc.contributor.authorLE DENMAT, Dominique
hal.structure.identifierPathologies, Imagerie et Biothérapies oro-faciales [EA 2496]
dc.contributor.authorBAROUKH, Brigitte
hal.structure.identifierInstitut Cochin [IC UM3 (UMR 8104 / U1016)]
dc.contributor.authorGUILBERT, Thomas
hal.structure.identifierInstitut Cochin [IC UM3 (UMR 8104 / U1016)]
dc.contributor.authorSCHMITT, Alain
hal.structure.identifierInstitut Cochin [IC UM3 (UMR 8104 / U1016)]
dc.contributor.authorMASSÉ, Jean-Marc
hal.structure.identifierLaboratoire de Physique des Solides [LPS]
hal.structure.identifierSpectroscopie, Modélisation, Interfaces pour L'Environnement et la Santé [SMiLES]
dc.contributor.authorBAZIN, Dominique
dc.contributor.authorLORENZ, Georg
dc.contributor.authorMORAWIETZ, Maria
dc.contributor.authorHOU, Jianghui
dc.contributor.authorCARVALHO-LOBATO, Patricia
dc.contributor.authorMANZANARES, Maria Cristina
hal.structure.identifierBioingénierie tissulaire [BIOTIS]
dc.contributor.authorFRICAIN, Jean-Christophe
hal.structure.identifierDépartement de pédiatrie
dc.contributor.authorTALMUD, Deborah
hal.structure.identifierGroup Hospitalier public Sud Oise GHPSO (Creil)
dc.contributor.authorDEMONTIS, Renato
dc.contributor.authorNEVES, Francisco
hal.structure.identifierService de pédiatrie générale
dc.contributor.authorZENATY, Delphine
hal.structure.identifierCentre de Recherche des Cordeliers [CRC]
dc.contributor.authorBERDAL, Ariane
dc.contributor.authorKIESOW, Andreas
dc.contributor.authorPETZOLD, Matthias
dc.contributor.authorMENASHI, Suzanne
dc.contributor.authorLINGLART, Agnes
dc.contributor.authorACEVEDO, Ana Carolina
dc.contributor.authorVARGAS-POUSSOU, Rosa
hal.structure.identifierCentre de Recherche des Cordeliers [CRC]
dc.contributor.authorMÜLLER, Dominik
hal.structure.identifierCentre de Recherche des Cordeliers [CRC]
dc.contributor.authorHOUILLIER, Pascal
hal.structure.identifierPathologies, Imagerie et Biothérapies oro-faciales [EA 2496]
hal.structure.identifierService d'Odontologie [Bretonneau]
hal.structure.identifierCentre National de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore
dc.contributor.authorCHAUSSAIN, Catherine
dc.date.accessioned2021-06-10T07:05:47Z
dc.date.available2021-06-10T07:05:47Z
dc.date.issued2015-10
dc.identifier.issn0884-0431
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/79043
dc.description.abstractEnClaudin-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.isoen
dc.publisherAmerican Society for Bone and Mineral Research
dc.title.enClaudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation
dc.typeArticle de revue
dc.identifier.doi10.1002/jbmr.2726
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologie
bordeaux.journalJournal of Bone and Mineral Research
bordeaux.page498–513
bordeaux.volume31
bordeaux.hal.laboratoriesBioingénierie Tissulaire (BioTis) - U1026*
bordeaux.issue3
bordeaux.institutionCNRS
bordeaux.institutionINSERM
bordeaux.institutionCHU de Bordeaux
bordeaux.institutionInstitut Bergonié
bordeaux.peerReviewedoui
hal.identifierhal-01286223
hal.version1
hal.origin.linkhttps://hal.archives-ouvertes.fr//hal-01286223v1
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