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000276851 0247_ $$2doi$$a10.1002/jbmr.2726
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000276851 0247_ $$2ISSN$$a1523-4681
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000276851 1001_ $$aBardet, Claire$$b0
000276851 245__ $$aClaudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
000276851 260__ $$a[Oxford]$$bOxford University Press$$c2016
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000276851 520__ $$aClaudin-16 protein (CLDN16) is a component of tight junctions (TJ) with a restrictive distribution so far demonstrated mainly in the kidney. Here, we demonstrate the expression of CLDN16 also in the tooth germ and show that claudin-16 gene (CLDN16) mutations result in amelogenesis imperfecta (AI) in the 5 studied patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). To investigate the role of CLDN16 in tooth formation, we studied a murine model of FHHNC and showed that CLDN16 deficiency led to altered secretory ameloblast TJ structure, lowering of extracellular pH in the forming enamel matrix, and abnormal enamel matrix protein processing, resulting in an enamel phenotype closely resembling human AI. This study unravels an association of FHHNC owing to CLDN16 mutations with AI, which is directly related to the loss of function of CLDN16 during amelogenesis. Overall, this study indicates for the first time the importance of a TJ protein in tooth formation and underlines the need to establish a specific dental follow-up for these patients.
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000276851 650_7 $$2Other$$aAMELOGENESIS IMPERFECTA (AI)
000276851 650_7 $$2Other$$aFAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (FHHNC)
000276851 650_7 $$2Other$$aMMP-20
000276851 650_7 $$2Other$$aSECRETORY AMELOBLASTS
000276851 650_7 $$2Other$$apH
000276851 650_7 $$2NLM Chemicals$$aClaudins
000276851 650_7 $$2NLM Chemicals$$aclaudin 16
000276851 650_2 $$2MeSH$$aAdult
000276851 650_2 $$2MeSH$$aAmeloblasts: metabolism
000276851 650_2 $$2MeSH$$aAmeloblasts: pathology
000276851 650_2 $$2MeSH$$aAmelogenesis Imperfecta: metabolism
000276851 650_2 $$2MeSH$$aAmelogenesis Imperfecta: pathology
000276851 650_2 $$2MeSH$$aAnimals
000276851 650_2 $$2MeSH$$aChild
000276851 650_2 $$2MeSH$$aClaudins: deficiency
000276851 650_2 $$2MeSH$$aClaudins: genetics
000276851 650_2 $$2MeSH$$aDental Enamel: abnormalities
000276851 650_2 $$2MeSH$$aDental Enamel: metabolism
000276851 650_2 $$2MeSH$$aDental Enamel: pathology
000276851 650_2 $$2MeSH$$aFemale
000276851 650_2 $$2MeSH$$aHumans
000276851 650_2 $$2MeSH$$aHydrogen-Ion Concentration
000276851 650_2 $$2MeSH$$aMale
000276851 650_2 $$2MeSH$$aMice
000276851 650_2 $$2MeSH$$aMiddle Aged
000276851 650_2 $$2MeSH$$aMutation: genetics
000276851 650_2 $$2MeSH$$aPhenotype
000276851 650_2 $$2MeSH$$aSyndrome
000276851 650_2 $$2MeSH$$aTight Junctions: metabolism
000276851 650_2 $$2MeSH$$aYoung Adult
000276851 7001_ $$aCourson, Frédéric$$b1
000276851 7001_ $$aWu, Yong$$b2
000276851 7001_ $$aKhaddam, Mayssam$$b3
000276851 7001_ $$aSalmon, Benjamin$$b4
000276851 7001_ $$aRibes, Sandy$$b5
000276851 7001_ $$aThumfart, Julia$$b6
000276851 7001_ $$aYamaguti, Paulo M$$b7
000276851 7001_ $$aRochefort, Gael Y$$b8
000276851 7001_ $$aFigueres, Marie-Lucile$$b9
000276851 7001_ $$0P:(DE-2719)9003035$$aBreiderhoff, Tilman$$b10$$udzne
000276851 7001_ $$aGarcia-Castaño, Alejandro$$b11
000276851 7001_ $$aVallée, Benoit$$b12
000276851 7001_ $$aLe Denmat, Dominique$$b13
000276851 7001_ $$aBaroukh, Brigitte$$b14
000276851 7001_ $$aGuilbert, Thomas$$b15
000276851 7001_ $$aSchmitt, Alain$$b16
000276851 7001_ $$aMassé, Jean-Marc$$b17
000276851 7001_ $$aBazin, Dominique$$b18
000276851 7001_ $$aLorenz, Georg$$b19
000276851 7001_ $$aMorawietz, Maria$$b20
000276851 7001_ $$aHou, Jianghui$$b21
000276851 7001_ $$aCarvalho-Lobato, Patricia$$b22
000276851 7001_ $$aManzanares, Maria Cristina$$b23
000276851 7001_ $$aFricain, Jean-Christophe$$b24
000276851 7001_ $$aTalmud, Deborah$$b25
000276851 7001_ $$aDemontis, Renato$$b26
000276851 7001_ $$aNeves, Francisco$$b27
000276851 7001_ $$aZenaty, Delphine$$b28
000276851 7001_ $$aBerdal, Ariane$$b29
000276851 7001_ $$aKiesow, Andreas$$b30
000276851 7001_ $$aPetzold, Matthias$$b31
000276851 7001_ $$aMenashi, Suzanne$$b32
000276851 7001_ $$aLinglart, Agnes$$b33
000276851 7001_ $$aAcevedo, Ana Carolina$$b34
000276851 7001_ $$aVargas-Poussou, Rosa$$b35
000276851 7001_ $$aMüller, Dominik$$b36
000276851 7001_ $$aHouillier, Pascal$$b37
000276851 7001_ $$aChaussain, Catherine$$b38
000276851 773__ $$0PERI:(DE-600)2008867-X$$a10.1002/jbmr.2726$$gVol. 31, no. 3, p. 498 - 513$$n3$$p498 - 513$$tJournal of bone and mineral research$$v31$$x0884-0431$$y2016
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