Associated Papers
Structure-function relationships in the sodium chloride cotransporter.
Moreno E et al.
Frontiers in Physiology, 2023
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V et al.
International Journal of Molecular Sciences, 2022
35628451 (PubMed )
Supplement: ijms-23-05641-s001.zip › Palazzo_et_al_Supplementary.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
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
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
Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.
Wang L et al.
Acta Biochimica Et Biophysica Sinica, 2015
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 2011
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
Syrén ML et al.
Human Mutation, 2002
Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome.
Kunchaparty S et al.
The American Journal of Physiology, 1999
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
Mastroianni N et al.
American Journal of Human Genetics, 1996
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