Associated Papers
ClC-K Kidney Chloride Channels: From Structure to Pathology.
Andrini O et al.
Handbook of Experimental Pharmacology, 2024
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich MH et al.
Nephron, 2023
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
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
Classic Bartter Syndrome: A Cause of Severe Hypokalemic Metabolic Alkalosis.
Thakore P et al.
Clinical Pediatrics, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
A novel mutation associated with Type III Bartter syndrome: A report of five cases.
Li Y et al.
Molecular Medicine Reports, 2019
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
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.
Lü Q et al.
Journal of Endocrinological Investigation, 2016
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Andrini O et al.
American Journal of Physiology. Renal Physiology, 2015
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
Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.
Cruz AJ et al.
Bmj Case Reports, 2013
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
García Castaño A et al.
Plos One, 2013
Genomic epidemiology of blood pressure salt sensitivity.
Kelly TN et al.
Journal of Hypertension, 2012
Gitelman syndrome due to p.A204T mutation in CLCNKB gene.
Enríquez R et al.
International Urology and Nephrology, 2010
Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.
Ariceta G et al.
Seminars in Nephrology, 2006
A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.
Gorgojo JJ et al.
Hormone Research, 2006
Bone mineral density and bone turnover in patients with Bartter syndrome.
Rodríguez-Soriano J et al.
Pediatric Nephrology (berlin, Germany), 2005
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.
Rodríguez-Soriano J et al.
Pediatric Nephrology (berlin, Germany), 2005
Functional and structural analysis of ClC-K chloride channels involved in renal disease.
Waldegger S et al.
The Journal of Biological Chemistry, 2000
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
Simon DB et al.
Nature Genetics, 1997