Spectrum of Mutations in Gitelman Syndrome-Reference-Cited by-同舟云学术

Spectrum of Mutations in Gitelman Syndrome

Published:2011-03-17 Issue:4 Volume:22 Page:693-703
ISSN:1046-6673
Container-title:Journal of the American Society of Nephrology
language:en
Short-container-title:JASN

Author:

Vargas-Poussou Rosa,Dahan Karin,Kahila Diana,Venisse Annabelle,Riveira-Munoz Eva,Debaix Huguette,Grisart Bernard,Bridoux Franck,Unwin Robert,Moulin Bruno,Haymann Jean-Philippe,Vantyghem Marie-Christine,Rigothier Claire,Dussol Bertrand,Godin Michel,Nivet Hubert,Dubourg Laurence,Tack Ivan,Gimenez-Roqueplo Anne-Paule,Houillier Pascal,Blanchard Anne,Devuyst Olivier,Jeunemaitre Xavier

Publisher

American Society of Nephrology (ASN)

Subject

Nephrology,General Medicine

Reference30 articles.

1. Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

2. Molecular Cloning, Expression Pattern, and Chromosomal Localization of the Human Na–Cl Thiazide-Sensitive Cotransporter (SLC12A3)

3. Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension;Melander;Hypertension,,2000

4. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

5. Transcriptional and Functional Analyses ofSLC12A3Mutations: New Clues for the Pathogenesis of Gitelman Syndrome

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1. A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome;Clinica Chimica Acta;2025-01

2. Untangling the Uncertain Role of Overactivation of the Renin–Angiotensin–Aldosterone System with the Aging Process Based on Sodium Wasting Human Models;International Journal of Molecular Sciences;2024-08-28

3. Structural bases for Na+-Cl− cotransporter inhibition by thiazide diuretic drugs and activation by kinases;Nature Communications;2024-08-14

4. Pathophysiological role of Na–Cl cotransporter in kidneys, blood pressure, and metabolism;Human Cell;2024-07-10

5. Clinical and genetic analysis of a case of Gitelman syndrome accompanied with Graves disease and adrenocortical adenoma: A case report;Medicine;2024-04-12