Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.
Topak A
Laboratory Medicine, 2024
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich MH et al.
Nephron, 2023
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V et al.
International Journal of Molecular Sciences, 2022
Phenotypic and genotypic characteristics of children with Bartter syndrome.
Güven S et al.
The Turkish Journal of Pediatrics, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
Oh J et al.
Clinical Genetics, 2021
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
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Seys E et al.
Journal of the American Society of Nephrology : Jasn, 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
Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.
Corbetta S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2015
Potassium modulates electrolyte balance and blood pressure through effects on distal cell voltage and chloride.
Terker AS et al.
Cell Metabolism, 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
Genomic epidemiology of blood pressure salt sensitivity.
Kelly TN et al.
Journal of Hypertension, 2012
A thiazide test for the diagnosis of renal tubular hypokalemic disorders.
Colussi G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2007
Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome.
Bettinelli A et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007
Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
Tajima T et al.
Endocrine Journal, 2006
Functional and structural analysis of ClC-K chloride channels involved in renal disease.
Waldegger S et al.
The Journal of Biological Chemistry, 2000
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Konrad M et al.
Journal of the American Society of Nephrology : Jasn, 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