Results 51 to 60 of about 10,292,350 (166)
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome
npj Genomic Medicine, 2021 Recurrent mutations in the SLC12A3 gene responsible for autosomal recessive Gitelman syndrome (GS) are frequently reported, but the exact prevalence is unknown.
Ming-Tso Yan +7 more
doaj +1 more source
Iranian Journal of Pediatrics, 2023 Introduction: Gitelman syndrome (GS) is an inherited kidney disease that causes an imbalance of charged ions in the body. SLC12A3 mutation is the predominant cause of GS. There are different known and unknown pathogenic mutations in SLC12A3.
Ya-Ping Ma, Zhuang-Jian Xu
semanticscholar +1 more source
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
openaire +2 more sources
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
core +1 more source
Introduction: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. Biallelic loss-of-function variants in the SLC12A3 gene, encoding the thiazide-sensitive Na+-Cl− cotransporter (NCC), underlie the biochemical signature of GS and its clinical variability:
MERLI, JACOPO NICOLÒ
openaire +2 more sources
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.
Chin-Chou Huang +32 more
doaj +1 more source
Urine electrolytes guide treatment of Gitelman syndrome and recurrent syncope-A case report. [PDF]
Physiol RepAbstract Syncope is a common reason for inpatient admission. Few case studies describe an association between syncope and Gitelman syndrome (GS). Herein, we present a case of a woman with hypokalemia and recurrent syncope which eventually led to a diagnosis of GS. A physiologic approach to urine electrolyte interpretation informed clinical decisions to
Agrawal S, Fifer KM, Farouk SS, Rein JL.
europepmc +2 more sources
Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome [PDF]
Clinical Journal of the American Society of Nephrology, 2011 Summary Background and objectives Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive Na+-Cl− cotransporter (NCC). Despite meticulous sequencing of genomic DNA, approximately one-third of GS patients are negative or ...
Yi-Fen, Lo +9 more
openaire +2 more sources
BMC Nephrology, 2023 A 14-year-old male patient who suffered from limb numbness, fatigue, and hypokalemia was considered Graves’ disease (GD) complicated with thyrotoxic periodic paralysis (TPP) at the first diagnosis.
Jing Xu +5 more
doaj +1 more source
Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation
European Journal of Case Reports in Internal Medicine, 2021 Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter.
Maria Clara Novais de Matos +6 more
doaj +1 more source