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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...
Autores principales: | Sewerin, Sebastian, Piontek, Jörg, Schönauer, Ria, Grunewald, Sonja, Rauch, Angelika, Neuber, Steffen, Bergmann, Carsten, Günzel, Dorothee, Halbritter, Jan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Chongqing Medical University
2021
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Materias: | |
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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