Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
ClC-K Kidney Chloride Channels: From Structure to Pathology.
Andrini O et al.
Handbook of Experimental Pharmacology, 2024
Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain.
Peces R et al.
Clinical Kidney Journal, 2021
34345425 (PubMed )
Supplement: sfab083_supplementary_data.zip › Supplementary_material.docx
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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
Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.
Cheng CJ et al.
The Journal of Physiology, 2017
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
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.
Andrini O et al.
Pflugers Archiv : European Journal of Physiology, 2014
A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.
Tavira B et al.
Journal of Human Genetics, 2014
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
García Castaño A et al.
Plos One, 2013
Molecular pathophysiology of tubular transport disorders.
Zelikovic I
Pediatric Nephrology (berlin, Germany), 2001
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