Associated Papers
A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
Koca O et al.
Cen Case Reports, 2024
Kidney ion handling genes and their interaction in blood pressure control.
An C et al.
Bioscience Reports, 2022
Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.
Qin YZ et al.
World Journal of Clinical Cases, 2022
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.
Jiang L et al.
Endocrine Connections, 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
Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.
Zhang JH et al.
Biomed Research International, 2021
Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report.
He G et al.
Medicine, 2020
Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene.
Conticini E et al.
Reumatismo, 2020
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
Arg913Gln of SLC12A3 gene promotes development and progression of end-stage renal disease in Chinese type 2 diabetes mellitus.
Zhang R et al.
Molecular and Cellular Biochemistry, 2018
Glucose tolerance and insulin responsiveness in Gitelman syndrome patients.
Yuan T et al.
Endocrine Connections, 2017
New SLC12A3 disease causative mutation of Gitelman's syndrome.
Grillone T et al.
World Journal of Nephrology, 2016
Polymorphisms in the SLC12A3 Gene Encoding Sodium-Chloride Cotransporter are Associated with Hypertension: A Family-Based Study in the Mongolian Population.
An C et al.
Kidney & Blood Pressure Research, 2016
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.
Ma J et al.
American Journal of Nephrology, 2016
Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome.
Liu T et al.
American Journal of Nephrology, 2016
Association of variants in renal salt reabsorption-related gene SLC12A3 with essential hypertension in a Mongolian population.
Liang JQ et al.
Genetics and Molecular Research : Gmr, 2015
Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.
Wang L et al.
Acta Biochimica Et Biophysica Sinica, 2015
Gender-based differences on the association between salt-sensitive genes and obesity in Korean children aged between 8 and 9 years.
Lee M et al.
Plos One, 2015
Relationship between NOX4 level and angiotensin II signaling in Gitelman's syndrome. Implications with hypertension.
Calò LA et al.
International Journal of Clinical and Experimental Medicine, 2015
Tag polymorphisms of solute carrier family 12 member 3 gene modify the risk of hypertension in northeastern Han Chinese.
Wang YL et al.
Journal of Human Hypertension, 2014
Increased level of p63RhoGEF and RhoA/Rho kinase activity in hypertensive patients.
Calò LA et al.
Journal of Hypertension, 2014
Clinical severity of Gitelman syndrome determined by serum magnesium.
Jiang L et al.
American Journal of Nephrology, 2014
SIRT1, heme oxygenase-1 and NO-mediated vasodilation in a human model of endogenous angiotensin II type 1 receptor antagonism: implications for hypertension.
Davis PA et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2013
Lack of an association between TSC gene Arg904Gln polymorphisms and essential hypertension risk based on a meta-analysis.
Zhang F et al.
Genetics and Molecular Research : Gmr, 2012
Gitelman's syndrome and pregnancy: new potential pathophysiological influencing factors, therapeutic approach and materno-fetal outcome.
Calò LA et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2012
Lack of association of variants of the renal salt reabsorption-related genes SLC12A3 and ClC-Kb and hypertension in Mongolian and Han populations in Inner Mongolia.
Chang PY et al.
Genetics and Molecular Research : Gmr, 2011
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 2011
Promoter Polymorphism of RGS2 Gene Is Associated with Change of Blood Pressure in Subjects with Antihypertensive Treatment: The Azelnidipine and Temocapril in Hypertensive Patients with Type 2 Diabetes Study.
Sugimoto K et al.
International Journal of Hypertension, 2010
[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
Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.
Qin L et al.
Nephrology (carlton, Vic.), 2009
Myocardial perfusion defects in Bartter and Gitelman syndromes.
Scognamiglio R et al.
European Journal of Clinical Investigation, 2008
Silencing regulator of G protein signaling-2 (RGS-2) increases angiotensin II signaling: insights into hypertension from findings in Bartter's/Gitelman's syndromes.
Calò LA et al.
Journal of Hypertension, 2008
Molecular variants of the thiazide-sensitive Na+-Cl- cotransporter in hypertensive families.
Keszei AP et al.
Journal of Hypertension, 2007
SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy.
Kim JH et al.
Diabetes, 2006
Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found.
Urbanová M et al.
Kidney & Blood Pressure Research, 2006
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
Bettinelli A et al.
Pediatric Research, 2005
G2736A polymorphism of thiazide-sensitive Na-Cl cotransporter gene predisposes to hypertension in young women.
Matsuo A et al.
Journal of Hypertension, 2004
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
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
Lemmink HH et al.
Kidney International, 1998