Article
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2016
Bardet Claire, Courson Frédéric, Wu Yong, Khaddam Mayssam, Salmon Benjamin, Ribes Sandy, Thumfart Julia, Yamaguti Paulo M, Rochefort Gael Y, Figueres Marie-Lucile, Breiderhoff Tilman, Garcia-Castaño Alejandro, Vallée Benoit, Le Denmat Dominique, Baroukh Brigitte, Guilbert Thomas, Schmitt Alain, Massé Jean-Marc, Bazin Dominique, Lorenz Georg, Morawietz Maria, Hou Jianghui, Carvalho-Lobato Patricia, Manzanares Maria Cristina, Fricain Jean-Christophe, Talmud Deborah, Demontis Renato, Neves Francisco, Zenaty Delphine, Berdal Ariane, Kiesow Andreas, Petzold Matthias, Menashi Suzanne, Linglart Agnes, Acevedo Ana Carolina, Vargas-Poussou Rosa, Müller Dominik, Houillier Pascal, Chaussain Catherine
Abstract excerpt
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...
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