Results 41 to 50 of about 6,819 (177)
BMC Nephrology, 2020 Background Gitelman syndrome is a rare salt-losing renal tubular disorder associated with mutation of SLC12A3 gene, which encodes the Na-Cl co-transporter (NCCT).
Bingzi Dong +7 more
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Molecular complexity analysis of the diagnosis of Gitelman syndrome in China
Open Life Sciences, 2023 Gitelman syndrome (GS) is an autosomal recessive renal tubal disease characterized by hypomagnesemia, hypokalemia, and hypocalciuria. The disease is caused by defects in the SLC12A3 gene, which encodes the thiazide diuretic-sensitive sodium chloride ...
Song Wei +5 more
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Gene expression of Slc12a3 in the kidney of wild-type (WT) and Vpr transgenic (Tg) mice.
, 2022 (A) Renal Slc12a3 gene expression, quantified by qRT-PCR, was significantly lower in Tg mice compared with WT mice. (B) Slc12a3 gene expression was markedly lower (fewer cells express Slc12a3) in Tg mice compared with WT mice, as determined in situ ...
Hewang Lee (13839931) +19 more
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Home Parenteral Support in Severe Gitelman Syndrome: A Case Report. [PDF]
Clin Case RepABSTRACT Gitelman syndrome (GS), also known as familial hypokalaemia‐hypomagnesemia, is a rare autosomal recessive renal tubular disorder characterized by hypokalaemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Electrolyte replacement of potassium and magnesium remains the mainstay of management, with oral supplementation achieving this ...
Martin G, Fahal I, Mehta S.
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A Deep Intronic Mutation in the SLC12A3 Gene Leads to Gitelman Syndrome [PDF]
Pediatric Research, 2009 Many mutations have been detected in the SLC12A3 gene of Gitelman syndrome (GS, OMIM 263800) patients. In previous studies, only one mutant allele was detected in approximately 20 to 41% of patients with GS; however, the exact reason for the nonidentification has not been established.
Kandai, Nozu +9 more
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Characteristics of SBP lowering genetic variants in ACE, ADRB1, and SLC12A3.
, 2022 Characteristics of SBP lowering genetic variants in ACE, ADRB1, and SLC12A3.
Andrea Gsur (9900039) +22 more
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A uterine‐centric view of reproductive senescence: Genetic insights into late‐life performance in laying hens [PDF]
IMetaOmicsThis study identifies uterus weight as a heritable (h2 = 0.45) intermediate phenotype that independently associates with late‐life egg production and eggshell quality in aged laying hens. Genome‐wide association study (GWAS) reveals a genome‐wide significant locus on chromosome 3 and suggestive loci on chromosome 11 for uterus weight, mediation ...
Zhang J +7 more
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SLC12A3 variants modulate LDL cholesterol levels in the Mongolian population [PDF]
Lipids in Health and Disease, 2017 Abnormalities in lipid metabolism are crucial factors in the pathogenesis of cardiovascular disease (CVD). Variants of many genes have been verified to confer risk for lipid metabolism abnormalities. However, the relationship between genetic variants of the NCC-encoding SLC12A3 gene and lipid metabolism in the Mongolian population remains unclear.
Caiyan An, Kejin Zhang, Xiulan Su
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Frontiers in Endocrinology, 2018 Prolactin (PRL) has been considered a key regulator of ion uptake in zebrafish. The genes slc12a10.2 and slc12a3, which are Na+ and chloride Cl− co-transporters, have been reported to be regulated by PRL in freshwater fish. The integrative network of PRL
Tingting Shu +9 more
doaj +1 more source
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder [PDF]
Endocrine Connections, 2022 Purposes This study was conducted to identify the frequent mutations from reported Chinese Gitelman syndrome (GS) patients, to predict the three-dimensional structure change of human Na–Cl co-transporter (hNCC), and to test the activity of these mutations and some novel mutations
Lanping Jiang +7 more
openaire +2 more sources