Associated Papers
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.
Lin SC et al.
Biomedicines, 2022
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
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study.
Alexandru M et al.
Journal of Clinical Medicine, 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
Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay.
Valdez-Flores MA et al.
American Journal of Physiology. Renal Physiology, 2016
[A novel mutation of the thiazide-sensitive Na-Cl cotransporter gene in a patient with Gitelman's syndrome].
Okada H et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2010
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
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Hypertension in a patient with Gitelman's syndrome.
Ogihara T et al.
Journal of Human Hypertension, 2004
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
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
Melander O et al.
Hypertension (dallas, Tex. : 1979), 2000
The molecular genetic approach to "Bartter's syndrome".
Károlyi L et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
Mastroianni N et al.
American Journal of Human Genetics, 1996