Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.A209T
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CLDN16

NM_006580.4:p.A209T

Associated Papers

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.

Eltan M et al.

Calcified Tissue International, 2022

Claudins in Renal Physiology and Pathology.

Prot-Bertoye C et al.

Genes, 2020

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.

Claverie-Martin F

Clinical Kidney Journal, 2015

Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.

Yamaguti PM et al.

Bmc Nephrology, 2015

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B

The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder.

Haisch L et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2011

Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.

Hou J et al.

The Journal of Clinical Investigation, 2008

Paracellin-1 and the modulation of ion selectivity of tight junctions.

Hou J et al.

Journal of Cell Science, 2005

Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Weber S et al.

Journal of the American Society of Nephrology : Jasn, 2001

Lecture: New light on the role of claudins in the kidney.

Hou J

Organogenesis, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."