Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

Claudins constitute the major component of tight junctions and regulate paracellular permeability of epithelia. Claudin-10 occurs in two major isoforms that form paracellular channels with ion selectivity. We report on two families segregating an autosomal recessive disorder characterized by general...

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Enregistré dans:
Détails bibliographiques
Publié dans:PLoS Genet
Auteurs principaux: Klar, Joakim, Piontek, Jörg, Milatz, Susanne, Tariq, Muhammad, Jameel, Muhammad, Breiderhoff, Tilman, Schuster, Jens, Fatima, Ambrin, Asif, Maria, Sher, Muhammad, Mäbert, Katrin, Fromm, Anja, Baig, Shahid M., Günzel, Dorothee, Dahl, Niklas
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2017
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5521874/
https://ncbi.nlm.nih.gov/pubmed/28686597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006897
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