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Journal articles
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation
Claire Bardet
1
Frédéric Courson
2, 3
Yong Wu
1
Mayssam Khaddam
1
Benjamin Salmon
1, 2, 3
Sandy Ribes
1
Julia Thumfart
Paulo M Yamaguti
Gael Y Rochefort
1
Marie-Lucile Figueres
4
Tilman Breiderhoff
Alejandro Garcia-Castaño
Benoit Vallée
5
Dominique Le Denmat
1
Brigitte Baroukh
1
Thomas Guilbert
6
Alain Schmitt
6
Jean-Marc Massé
6
Dominique Bazin
7, 8
Georg Lorenz
Maria Morawietz
Jianghui Hou
Patricia Carvalho-Lobato
Maria Cristina Manzanares
Jean-Christophe Fricain
9
Deborah Talmud
10
Renato Demontis
11
Francisco Neves
Delphine Zenaty
12
Ariane Berdal
4
Andreas Kiesow
Matthias Petzold
Suzanne Menashi
5
Agnes Linglart
Ana Carolina Acevedo
Rosa Vargas-Poussou
Dominik Müller
4
Pascal Houillier
4, *
Catherine Chaussain
1, 2, 3, *
*
Corresponding author
8
SMiLES - Spectroscopie, Modélisation, Interfaces pour L'Environnement et la Santé
LCMCP - Laboratoire de Chimie de la Matière Condensée de Paris
Gael Y Rochefort 1
Author IdHAL : gael-rochefort ResearcherId : http://www.researcherid.com/rid/H-3359-2019 ORCID : https://orcid.org/0000-0001-6428-3570
Marie-Lucile Figueres 4
Author
Tilman Breiderhoff
Author
Alejandro Garcia-Castaño
Author
Benoit Vallée 5
Author
Dominique Le Denmat 1
Author
Brigitte Baroukh 1
Author
Thomas Guilbert 6
Author
Maria Morawietz
Author
Jianghui Hou
Author
Patricia Carvalho-Lobato
Author
Maria Cristina Manzanares
Author
Jean-Christophe Fricain 9
Author
Deborah Talmud 10
Author
Renato Demontis 11
Author
Francisco Neves
Author
Suzanne Menashi 5
Author
Agnes Linglart
Author
Ana Carolina Acevedo
Author
Rosa Vargas-Poussou
Author
Dominik Müller 4
Author
Pascal Houillier 4
Correspondent author
Catherine Chaussain 1, 2, 3
Correspondent author
1
EA 2496 - Pathologies, Imagerie et Biothérapies oro-faciales (UFR Odontologie
1 rue Maurice Arnoux
92120 Montrouge France - France)
- UPD5 - Université Paris Descartes - Paris 5 : EA 2496 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
2
Service d'Odontologie [Bretonneau] (France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Hôpital Bretonneau (France)
3
Centre National de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore (France)
- Hôpital Bretonneau (France)
4
CRC - Centre de Recherche des Cordeliers (15 rue de l'Ecole de Médecine - Bâtiment B - 75270 Paris Cedex 06 - France)
- UPMC - Université Pierre et Marie Curie - Paris 6 (4 place Jussieu - 75005 Paris - France)
- EPHE - École pratique des hautes études (4-14 Rue Ferrus, 75014 Paris - France)
- PSL - Université Paris sciences et lettres (60 rue Mazarine 75006 Paris - France)
- UPD7 - Université Paris Diderot - Paris 7 (5 rue Thomas-Mann - 75205 Paris cedex 13 - France)
- UPD5 - Université Paris Descartes - Paris 5 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1138 (101, rue de Tolbiac, 75013 Paris - France)
5
Laboratory CRRET (France)
- UPE - Université Paris-Est (6-8 avenue Blaise-Pascal Cité Descartes - Champs-sur-Marne 77455 Marne-la-Vallée - France)
6
IC UM3 (UMR 8104 / U1016) - Institut Cochin (22 rue Méchain, 75014 Paris - France)
- UPD5 - Université Paris Descartes - Paris 5 : UM 3 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1016 (101, rue de Tolbiac, 75013 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : UMR 8104 (France)
7
LPS - Laboratoire de Physique des Solides (Bat. 510 91405 Orsay cedex - France)
- UP11 - Université Paris-Sud - Paris 11 (Bâtiment 300 - 91405 Orsay cedex - France)
- CNRS - Centre National de la Recherche Scientifique : UMR8502 (France)
8
SMiLES - Spectroscopie, Modélisation, Interfaces pour L'Environnement et la Santé (France)
- LCMCP - Laboratoire de Chimie de la Matière Condensée de Paris (11 place Marcelin Berthelot 75231 Paris Cedex 05 - France)
- CNRS - Centre National de la Recherche Scientifique : UMR7574 (France)
- UPMC - Université Pierre et Marie Curie - Paris 6 (4 place Jussieu - 75005 Paris - France)
- CdF (institution) - Collège de France (France)
9
BIOTIS - Bioingénierie tissulaire (146, rue Léo Saignat 33076 Bordeaux cedex - France)
- Université Bordeaux Segalen - Bordeaux 2 (146 rue Léo Saignat - 33076 Bordeaux cedex - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1026 (101, rue de Tolbiac, 75013 Paris - France)
10
Département de pédiatrie (France)
- CHR - Centre Hospitalier Régional d'Orléans (14 Avenue de l'Hôpital, 45100 Orléans - France)
11
Group Hospitalier public Sud Oise GHPSO (Creil) (France)
12
Service de pédiatrie générale (75019 PARIS - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- Hôpital Robert Debré (France)
- UPD7 - Université Paris Diderot - Paris 7 (5 rue Thomas-Mann - 75205 Paris cedex 13 - France)
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. © 2015 American Society for Bone and Mineral Research.
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Journal articles
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https://hal.sorbonne-universite.fr/hal-01286223
Contributor : Gestionnaire Hal-Upmc <>
Submitted on : Thursday, March 10, 2016 - 2:56:22 PM
Last modification on : Monday, December 14, 2020 - 9:44:01 AM
Contributor : Gestionnaire Hal-Upmc <>
Submitted on : Thursday, March 10, 2016 - 2:56:22 PM
Last modification on : Monday, December 14, 2020 - 9:44:01 AM
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- HAL Id : hal-01286223, version 1
- DOI : 10.1002/jbmr.2726
Collections
UPMC | CNRS | LCMCP | CORDELIERS | CDF | UNIV-PARIS5 | INC-CNRS | LCMCP-SMILES | EPHE | USPC | SORBONNE-UNIVERSITE | UNIV-PARIS7 | SU-SCIENCES | UNIV-PARIS | UP-SANTE | BIOTIS | PSL | SU-TI
Citation
Claire Bardet, Frédéric Courson, Yong Wu, Mayssam Khaddam, Benjamin Salmon, et al.. Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation. Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2015, 31 (3), pp.498-513. ⟨10.1002/jbmr.2726⟩. ⟨hal-01286223⟩
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