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10.3390/ijms20215396 http://scihub22266oqcxt.onion/10.3390/ijms20215396 31671507!6862131!31671507     free     free     free       Int+J+Mol+Sci 2019 ; 20 (21): ä Nephropedia Template TP {{tp|p=31671507|t=2019. A Novel Claudinopathy Based on Claudin-10 Mutations |pdf=|usr=}}{{31671507}} gab.com Text A Novel Claudinopathy Based on Claudin-10 Mutations JO: Int J Mol Sci http://www.kidney.de/pget.php?&tw=1&pmid=31671507 #FOAvip 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 CLDN10 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. Twit Text FOAVip A Novel Claudinopathy Based on Claudin-10 Mutations ????Int J Mol Sci http://www.kidney.de/pget.php?&tw=1&pmid=31671507 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=31671507 #FOAvip English Wikipedia <ref>{{Cite pmid|31671507}}</ref> A Novel Claudinopathy Based on Claudin-10 Mutations #MMPMID31671507 Milatz S Int J Mol Sci 2019[Oct]; 20 (21): ä PMID31671507show ga 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 CLDN10 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. |*Mutation[MESH] |Claudins/*genetics/*metabolism[MESH] |Genetic Predisposition to Disease[MESH] |Humans[MESH] |Hypohidrosis/genetics[MESH] |Ichthyosis/genetics[MESH] |Kidney Diseases/*genetics/metabolism[MESH] |Lacrimal Apparatus Diseases/genetics[MESH] |Protein Domains[MESH]A Novel Claudinopathy Based on Claudin-10 Mutations (epmc).pdf DeepDyve Pubget Overpricing