Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.
Lee JY et al.
Annals of Human Genetics, 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
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
Stevenson M et al.
Journal of the Endocrine Society, 2022
Phenotypic and genotypic characteristics of children with Bartter syndrome.
Güven S et al.
The Turkish Journal of Pediatrics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
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
Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
Oh J et al.
Clinical Genetics, 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
Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.
Han Y et al.
Endocrine, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.
Wang C et al.
American Journal of Physiology. Renal Physiology, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.
Cheng CJ et al.
The Journal of Physiology, 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
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
Lee JW et al.
Journal of Korean Medical Science, 2016
Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
Stölting G et al.
The Journal of Biological Chemistry, 2015
A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration.
Ohkubo K et al.
Meta Gene, 2014
Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency.
Tamagawa E et al.
Endocrine Journal, 2014
Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.
Adachi M et al.
Journal of Medical Case Reports, 2013
Translational read-through of a nonsense mutation causing Bartter syndrome.
Cho HY et al.
Journal of Korean Medical Science, 2013
Genomic epidemiology of blood pressure salt sensitivity.
Kelly TN et al.
Journal of Hypertension, 2012
Genetic basis of Bartter syndrome in Korea.
Lee BH et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies.
Nozu K et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR.
Nozu K et al.
Pediatric Research, 2007
Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
Tajima T et al.
Endocrine Journal, 2006
Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III.
Watanabe T et al.
Pediatric Nephrology (berlin, Germany), 2005
Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria.
Fukuyama S et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
Lopez HU et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0