A Novel Claudinopathy Based on Claudin-10 Mutations

Claudins are key components of the tight junction, sealing the paracellular cleft or composing size-, charge- and water-selective paracellular channels. Claudin-10 occurs in two major isoforms, claudin-10a and claudin-10b, which constitute paracellular anion or cation channels, respectively. For sev...

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Main Author:	Susanne Milatz
Format:	Article
Language:	English
Published:	MDPI AG 2019-10-01
Series:	International Journal of Molecular Sciences
Subjects:	tight junction paracellular permeability paracellular sodium transport thick ascending limb nephropathy helix syndrome hypokalemia hypermagnesemia anhidrosis gland dysfunction
Online Access:	https://www.mdpi.com/1422-0067/20/21/5396

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spelling	doaj-cae9883937d246fd92099becf1864f672020-11-25T01:38:40ZengMDPI AGInternational Journal of Molecular Sciences1422-00672019-10-012021539610.3390/ijms20215396ijms20215396A Novel Claudinopathy Based on Claudin-10 MutationsSusanne Milatz0Institute of Physiology, Kiel University, Christian-Albrechts-Platz 4, 24118 Kiel, GermanyClaudins are key components of the tight junction, sealing the paracellular cleft or composing size-, charge- and water-selective paracellular channels. Claudin-10 occurs in two major isoforms, claudin-10a and claudin-10b, which constitute paracellular anion or cation channels, respectively. For several years after the discovery of claudin-10, its functional relevance in men has remained elusive. Within the past two years, several studies appeared, describing patients with different pathogenic variants of the <i>CLDN10</i> gene. Patients presented with dysfunction of kidney, exocrine glands and skin. This review summarizes and compares the recently published studies reporting on a novel autosomal-recessive disorder based on claudin-10 mutations.https://www.mdpi.com/1422-0067/20/21/5396tight junctionparacellular permeabilityparacellular sodium transportthick ascending limbnephropathyhelix syndromehypokalemiahypermagnesemiaanhidrosisgland dysfunction
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Susanne Milatz
spellingShingle	Susanne Milatz A Novel Claudinopathy Based on Claudin-10 Mutations International Journal of Molecular Sciences tight junction paracellular permeability paracellular sodium transport thick ascending limb nephropathy helix syndrome hypokalemia hypermagnesemia anhidrosis gland dysfunction
author_facet	Susanne Milatz
author_sort	Susanne Milatz
title	A Novel Claudinopathy Based on Claudin-10 Mutations
title_short	A Novel Claudinopathy Based on Claudin-10 Mutations
title_full	A Novel Claudinopathy Based on Claudin-10 Mutations
title_fullStr	A Novel Claudinopathy Based on Claudin-10 Mutations
title_full_unstemmed	A Novel Claudinopathy Based on Claudin-10 Mutations
title_sort	novel claudinopathy based on claudin-10 mutations
publisher	MDPI AG
series	International Journal of Molecular Sciences
issn	1422-0067
publishDate	2019-10-01
description	Claudins are key components of the tight junction, sealing the paracellular cleft or composing size-, charge- and water-selective paracellular channels. Claudin-10 occurs in two major isoforms, claudin-10a and claudin-10b, which constitute paracellular anion or cation channels, respectively. For several years after the discovery of claudin-10, its functional relevance in men has remained elusive. Within the past two years, several studies appeared, describing patients with different pathogenic variants of the <i>CLDN10</i> gene. Patients presented with dysfunction of kidney, exocrine glands and skin. This review summarizes and compares the recently published studies reporting on a novel autosomal-recessive disorder based on claudin-10 mutations.
topic	tight junction paracellular permeability paracellular sodium transport thick ascending limb nephropathy helix syndrome hypokalemia hypermagnesemia anhidrosis gland dysfunction
url	https://www.mdpi.com/1422-0067/20/21/5396
work_keys_str_mv	AT susannemilatz anovelclaudinopathybasedonclaudin10mutations AT susannemilatz novelclaudinopathybasedonclaudin10mutations
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A Novel Claudinopathy Based on Claudin-10 Mutations

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