Results 1 to 10 of about 6,819 (177)
SLC12A3 Variation and Renal Function in Chinese Patients With Hypertension
Frontiers in Medicine, 2022 ObjectiveSLC12A3 (solute carrier family 12 member 3) gene variants are associated with diabetic nephropathy; however, their association with hypertensive nephropathy remains unknown.
Tao-Cheng Wu +2 more
exaly +5 more sources
Kidney and Blood Pressure Research, 2016 Background/Aims: Hypertension or persistent high blood pressure (BP) is a leading cause of death worldwide. Extensive evidence indicates that the thiazide-sensitive Na+-Cl- cotrans-porter (NCC) affects BP via regulation of renal sodium reabsorption ...
Xiulan Su
exaly +4 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority.
Sai Wang, Leping Shao, Xiaomeng Shi
exaly +3 more sources
Frontiers in Genetics, 2022 The SLC12A3 (Solute carrier family 12 member 3) gene encodes a sodium-chloride cotransporter and mediates Na+ and Cl− reabsorption in the distal convoluted tubule of kidneys.
Harvest F Gu
exaly +3 more sources
Clinical and genetic features in 30 children with Gitelman syndrome [PDF]
BMC NephrologyBackground Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder caused by SLC12A3 gene variants. This study aimed to retrospectively analyze the clinical and genetic characteristics of pediatric GS patients and validate the ...
Qian-qian Sheng +2 more
doaj +2 more sources
Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome [PDF]
Frontiers in PediatricsObjectiveTo investigate the clinical phenotype, SLC12A3 gene spectrum, and genotype–phenotype correlation in Chinese children with Gitelman syndrome (GS).MethodsClinical and genetic data of 30 genetically confirmed pediatric GS cases (2015–2025) were ...
Wenyan Wang +4 more
doaj +2 more sources
A case analysis of Gitelman syndrome1 complicated with Sjögren’s disease [PDF]
Frontiers in MedicineBackgroundSjögren’s disease (an autoimmune exocrinopathy) and Gitelman syndrome (an autosomal recessive renal tubulopathy caused by SLC12A3 mutations) both manifest with hypokalemia.
Yuqi Tang +4 more
doaj +2 more sources
Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review [PDF]
Frontiers in GeneticsObjectiveTo report a rare case of concurrent Gitelman syndrome (GS) and Turner syndrome (TS) and explore their interplay in driving a complex clinical phenotype.DesignA single-case report with literature review.MethodsA 34-year-old woman was evaluated ...
Youhong Luo +11 more
doaj +2 more sources
Late diagnosis of Gitelman syndrome in an elderly patient: identification of a novel SLC12A3 pathogenic variant [PDF]
Brazilian Journal of NephrologyGitelman syndrome (GS) is an inherited salt-wasting, hypokalemic tubulopathy caused mainly by biallelic loss-of-function variants in the SLC12A3 gene. Despite being classically diagnosed in adolescence, delayed recognition may occur.
Lígia Ribeiro +3 more
doaj +5 more sources
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome [PDF]
Brazilian Journal of Medical and Biological Research, 2016 Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria.
Y. Zhang +7 more
doaj +3 more sources