Results 31 to 40 of about 10,292,350 (166)
Stem Cell ResearchGitelman’s disease is caused by a genetic mutation in the solute carrier family 12 member 3 (SLC12A3) gene, which encodes the sodium chloride cotransporter.
Sun Woo Lim +8 more
doaj +2 more sources
Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient
International Journal of General Medicine, 2021 Mei Zhong,1,* Zhenwei Zhai,2,* Xing Zhou,1 Jingxia Sun,1 Hui Chen,1 Wensheng Lu1 1Department of Endocrinology, The Peoples Hospital of Guangxi Zhuang Autonomous Region, Guangxi, People’s Republic of China; 2Department of Endocrinology, Tongde ...
Zhong M +5 more
doaj +2 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 +4 more sources
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia
BMC Nephrology, 2018 Background Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule.
Wenjun Yang +3 more
doaj +2 more sources
[From gene to disease; mutations in the SLC12A3 gene as the cause of Gitelman's syndrome]. [PDF]
Nederlands tijdschrift voor geneeskunde, 2005 Contains fulltext : 47957.pdf (Publisher’s version ) (Open Access)
Cornelissen, E.A.M. +3 more
core +8 more sources
PLoS ONE, 2022 HIV-associated nephropathy (HIVAN) impairs functions of both glomeruli and tubules. Attention has been previously focused on the HIVAN glomerulopathy. Tubular injury has drawn increased attention because sodium wasting is common in hospitalized HIV/AIDS ...
Shashi Shrivastav +19 more
doaj +3 more sources
Lipids in Health and Disease, 2018 Background The serum lipid profile, including LDL-C level, is associated with hypertension which is the major cause of cerebrovascular disease (CVD) amounting 30% of global death rate.
Caiyan An +3 more
doaj +2 more sources
Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus. [PDF]
CEN Case Rep, 2022 Iio K +10 more
europepmc +2 more sources
Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome. [PDF]
Int J Gen Med, 2023 Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS), characterized by hypokalemic metabolic alkalosis. The aim of this research is to investigate the genetic mutations and clinical features of patients with clinical suspicion of GS.Six families were enrolled. The symptoms, clinical examination, laboratory results, genotypes,
Xun Z +5 more
europepmc +5 more sources
Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern Japan [PDF]
Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern JapanGitelman’s syndrome （GS） is considered to be a rare disorder. To assess the prevalence of GS in the Japanese general population and the relationships between mutations of related genes and blood pressure, we performed mutational analysis of the SLC12A3 gene on 1,567 subjects from Aomori Prefecture in northern Japan.
Sugimoto, Kazuhiro +3 more
core +3 more sources