Associated Papers
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
Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.
Zhang L et al.
Nephron, 2023
The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.
Yin Y et al.
Frontiers in Endocrinology, 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
Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.
Li N et al.
Frontiers in Genetics, 2022
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.
Zeng Y et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.
Zhong F et al.
Journal of Endocrinological Investigation, 2019
Glucose tolerance and insulin responsiveness in Gitelman syndrome patients.
Yuan T et al.
Endocrine Connections, 2017
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.
Xia MF et al.
Clinical Case Reports, 2017
Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Wang F et al.
Clinical and Experimental Nephrology, 2017
[Autoimmune disorder secondary to DiGeorge syndrome: a long-term follow-up case report and literature review].
Xie Y et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2016
Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome.
Liu T et al.
American Journal of Nephrology, 2016
Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.
Li C et al.
Clinical Endocrinology, 2015
Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome.
Shao L et al.
Nephron. Physiology, 2008
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