Associated Papers
Transport and thiazide-inhibition mechanisms of the Na-Cl cotransporter: a structural perspective.
Lee CL et al.
Current Opinion in Nephrology and Hypertension, 2025
Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L et al.
Clinical Genetics, 2023
Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter.
Fan M et al.
Nature, 2023
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan MT et al.
Npj Genomic Medicine, 2021
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Kondo A et al.
Scientific Reports, 2021
34373523 (PubMed )
Supplement: 41598_2021_95521_MOESM1_ESM.pdf
Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.
Dong B et al.
Bmc Nephrology, 2020
Gitelman's Syndrome: characterization of a novel c.1181G>A point mutation and functional classification of the known mutations.
Ravarotto V et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2018
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R et al.
Nature Genetics, 2017
28416821 (PubMed )
Supplement: NIHMS861030-supplement-4.pdf
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.
Xia MF et al.
Clinical Case Reports, 2017
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
Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.
Tseng MH et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
Riveira-Munoz E et al.
Journal of the American Society of Nephrology : Jasn, 2007
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