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Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly

Formation of claudin-10 based tight junctions (TJs) is paramount to paracellular Na(+) transport in multiple epithelia. Sequence variants in CLDN10 have been linked to HELIX syndrome, a salt-losing tubulopathy with altered handling of divalent cations accompanied by dysfunctional salivary, sweat, an...

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Detalles Bibliográficos
Autores principales:	Sewerin, Sebastian, Piontek, Jörg, Schönauer, Ria, Grunewald, Sonja, Rauch, Angelika, Neuber, Steffen, Bergmann, Carsten, Günzel, Dorothee, Halbritter, Jan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Chongqing Medical University 2021
Materias:	Full Length Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293720/ https://www.ncbi.nlm.nih.gov/pubmed/35873018 http://dx.doi.org/10.1016/j.gendis.2021.06.006

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