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@ARTICLE{Bardet:276851,
      author       = {Bardet, Claire and Courson, Frédéric and Wu, Yong and
                      Khaddam, Mayssam and Salmon, Benjamin and Ribes, Sandy and
                      Thumfart, Julia and Yamaguti, Paulo M and Rochefort, Gael Y
                      and Figueres, Marie-Lucile and Breiderhoff, Tilman and
                      Garcia-Castaño, Alejandro and Vallée, Benoit and Le
                      Denmat, Dominique and Baroukh, Brigitte and Guilbert, Thomas
                      and Schmitt, Alain and Massé, Jean-Marc and Bazin,
                      Dominique and Lorenz, Georg and Morawietz, Maria and Hou,
                      Jianghui and Carvalho-Lobato, Patricia and Manzanares, Maria
                      Cristina and Fricain, Jean-Christophe and Talmud, Deborah
                      and Demontis, Renato and Neves, Francisco and Zenaty,
                      Delphine and Berdal, Ariane and Kiesow, Andreas and Petzold,
                      Matthias and Menashi, Suzanne and Linglart, Agnes and
                      Acevedo, Ana Carolina and Vargas-Poussou, Rosa and Müller,
                      Dominik and Houillier, Pascal and Chaussain, Catherine},
      title        = {{C}laudin-16 {D}eficiency {I}mpairs {T}ight {J}unction
                      {F}unction in {A}meloblasts, {L}eading to {A}bnormal
                      {E}namel {F}ormation.},
      journal      = {Journal of bone and mineral research},
      volume       = {31},
      number       = {3},
      issn         = {0884-0431},
      address      = {[Oxford]},
      publisher    = {Oxford University Press},
      reportid     = {DZNE-2025-00364},
      pages        = {498 - 513},
      year         = {2016},
      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.},
      keywords     = {Adult / Ameloblasts: metabolism / Ameloblasts: pathology /
                      Amelogenesis Imperfecta: metabolism / Amelogenesis
                      Imperfecta: pathology / Animals / Child / Claudins:
                      deficiency / Claudins: genetics / Dental Enamel:
                      abnormalities / Dental Enamel: metabolism / Dental Enamel:
                      pathology / Female / Humans / Hydrogen-Ion Concentration /
                      Male / Mice / Middle Aged / Mutation: genetics / Phenotype /
                      Syndrome / Tight Junctions: metabolism / Young Adult /
                      AMELOGENESIS IMPERFECTA (AI) (Other) / FAMILIAL
                      HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
                      (FHHNC) (Other) / MMP-20 (Other) / SECRETORY AMELOBLASTS
                      (Other) / pH (Other) / Claudins (NLM Chemicals) / claudin 16
                      (NLM Chemicals)},
      ddc          = {610},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:26426912},
      doi          = {10.1002/jbmr.2726},
      url          = {https://pub.dzne.de/record/276851},
}