Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation

Author:

Bardet Claire1,Courson Frédéric2,Wu Yong13,Khaddam Mayssam1,Salmon Benjamin12,Ribes Sandy1,Thumfart Julia4,Yamaguti Paulo M5,Rochefort Gael Y1,Figueres Marie-Lucile6,Breiderhoff Tilman4,Garcia-Castaño Alejandro7,Vallée Benoit8,Le Denmat Dominique1,Baroukh Brigitte1,Guilbert Thomas9,Schmitt Alain10,Massé Jean-Marc10,Bazin Dominique11,Lorenz Georg12,Morawietz Maria12,Hou Jianghui13,Carvalho-Lobato Patricia14,Manzanares Maria Cristina14,Fricain Jean-Christophe15,Talmud Deborah16,Demontis Renato17,Neves Francisco18,Zenaty Delphine19,Berdal Ariane6,Kiesow Andreas12,Petzold Matthias12,Menashi Suzanne8,Linglart Agnes20,Acevedo Ana Carolina5,Vargas-Poussou Rosa7,Müller Dominik4,Houillier Pascal621,Chaussain Catherine12

Affiliation:

1. EA 2496, Laboratory Orofacial Pathologies; Imaging and Biotherapies, Dental School Paris Descartes University; Sorbonne Paris Cité France

2. 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

3. 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

4. Department of Pediatric Nephrology; Charité University School of Medicine; Berlin Germany

5. Division of Dentistry, Oral Care Center for Inherited Diseases; University Hospital of Brasilia, Faculty of Health Sciences, University of Brasilia (UnB); Brasilia Brazil

6. INSERM UMRS 1138, Cordeliers Research Center, Paris-Diderot; Pierre et Marie Curie and Paris Descartes Universities, CNRS ERL 8228; Paris France

7. Department of Genetics; AP-HP, and Reference Center of Children and Adult Renal Hereditary Diseases (MARHEA), European Hospital Georges Pompidou; Paris France

8. Laboratory CRRET; Paris-Est University; CNRS Créteil France

9. Cochin Institute, Plate-Forme d'Imagerie Photonique, INSERM U1016; CNRS UMR8104, Paris Descartes University Sorbonne Paris Cité; Paris France

10. Cochin Institute, Transmission Electron Microscopy Platform; INSERM U1016, CNRS UMR8104, Paris Descartes University Sorbonne Paris Cité; Paris France

11. Laboratoire de Physique des Solides; CNRS, Paris Sud University, Orsay, and LCMCP-UPMC, Collège de France; Paris France

12. Fraunhofer Institute for Mechanics of Materials IWM; Halle Germany

13. Division of Renal Diseases; Washington University School of Medicine, St. Louis; MO USA

14. Human Anatomy and Embryology, Health University of Barcelona Campus-Bellvitge; University of Barcelona; Barcelona Spain

15. CHU Bordeaux, Dental School; U1026 Tissue Bioengineering, University of Bordeaux/Inserm; Bordeaux France

16. Department of Pediatrics; Centre Hospitalier Régional (CHR) d'Orléans; Orleans France

17. GHPSO; Creil France

18. Laboratory of Molecular Pharmacology, Faculty of Health Sciences; University of Brasilia (UNB); Brasilia Brazil

19. Department of Pediatric Endocrinology, AP-HP, Paris Diderot University; Robert Debré Hospital; Paris France

20. 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

21. Department of Physiology; AP-HP, and Reference Center of Children and Adult Renal Hereditary Diseases (MARHEA), Georges Pompidou European Hospital; Paris France

Funder

Paris Descartes University

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference58 articles.

1. Claudins and the modulation of tight junction permeability;Gunzel;Physiol Rev,2013

2. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption;Simon;Science,1999

3. Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium;Hou;Proc Natl Acad Sci USA,2009

4. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis;Weber;J Am Soc Nephrol,2001

5. Generalized enamel hypoplasia and renal dysfunction;MacGibbon;Aust Dent J,1972

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