Associated Papers
Kidney ion handling genes and their interaction in blood pressure control.
An C et al.
Bioscience Reports, 2022
Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome.
Bignon Y et al.
Human Mutation, 2020
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.
Louet M et al.
Scientific Reports, 2017
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
García Castaño A et al.
Plos One, 2017
[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].
Li L et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Andrini O et al.
American Journal of Physiology. Renal Physiology, 2015
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
García Castaño A et al.
Plos One, 2013
Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.
Yu Y et al.
Clinical Genetics, 2010
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