|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We summarized their clinical features, analyzed laboratory parameters related to GS and SLC12A3 gene.
|
26260218 |
2016 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.
|
27783806 |
2016 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia.
|
26770037 |
2016 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with GS.
|
27454426 |
2016 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that aberrant exon skipping is one previously unrecognized mechanism by which missense mutations in SLC12A3 can lead to Gitelman syndrome.
|
25060058 |
2015 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter.
|
26099046 |
2015 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Twenty patients of two GS pedigrees underwent direct sequence alignment of 26 exons of SLC12A3 to spot and locate mutant site.
|
25273610 |
2015 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our findings strongly suggested that the two novel mutations in the SLC12A3 gene are the causative agents of GS, which may provide further insights into the function of this gene and help clinicians better understand this disorder.
|
25990047 |
2015 |
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Of interest, alterations of the GBM were also observed in a Slc12a3 knock-out mouse model for Gitelman syndrome.
|
25165177 |
2014 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gitelman's syndrome (GS) is a rare recessive disorder caused by mutations in the renal salt-handling genes SLC12A3 and CLCNKB.
|
24830959 |
2014 |
|
Gitelman Syndrome
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.
|
22990302 |
2013 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gitelman syndrome (GS) is a rare inherited disorder caused by mutations in SLC12A3, encoding the thiazide-sensitive transporter NCCT (sodium chloride co-transporter) in the distal tubule.
|
23328711 |
2013 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic tests for SLC12A3 gene mutation described in Gitelman syndrome (GS) came negative.
|
23345488 |
2013 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A T60M mutation in the thiazide-sensitive sodium chloride cotransporter (NCC) is common in patients with Gitelman's syndrome (GS).
|
23833262 |
2013 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
About one year ago, the patient had been transferred to Seoul National University Hospital, because of unsolved hypokalemia, and was diagnosed as Gitelman's syndrome by clinical features and genetic analysis of the SLC12A3 gene.
|
24162365 |
2013 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Screening of recurrent hot spot SLC12A3 mutations may provide an early diagnosis of GS.
|
22679066 |
2012 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
We analyzed DNA samples of 163 patients with a clinical suspicion of GS by direct sequencing of all 26 exons of the SLC12A3 gene.
|
22009145 |
2012 |
|
Gitelman Syndrome
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Missense mutations account for approximately 70% of the mutations in GS, and there is a predisposition to large rearrangements caused by the presence of repeated sequences within the SLC12A3.
|
22169961 |
2012 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We analyzed DNA samples of 163 patients with a clinical suspicion of GS by direct sequencing of all 26 exons of the SLC12A3 gene.
|
22009145 |
2012 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gitelman's syndrome (GS), also known as familial hypokalemic hypomagnesemia, is a rare autosomal recessive hereditary salt-losing tubulopathy, characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria, which is usually caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium chloride contrasporter.
|
22169961 |
2012 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC12A3 cause the thiazide-resistant tubulopathy Gitelman syndrome.
|
22245519 |
2012 |
|
Gitelman Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Gitelman syndrome (GS) is a salt-wasting tubulopathy that results from the inactivation of the human thiazide-sensitive sodium chloride cotransporter located in the distal convoluted tubule.
|
22241817 |
2012 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gitelman syndrome (GS) is a tubulopathy caused by SLC12A3 gene mutations, which lead to hypokalaemic alkalosis, secondary hyperaldosteronism, hypomagnesaemia and hypocalciuria.
|
21753071 |
2011 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in the SLC12A3 gene are the main cause of Gitelman's syndrome (GS), a renal tubular disorder inherited as an autosomal recessive trait.
|
20675610 |
2011 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Twenty-nine patients with GS (men/women = 16/13), including eight negative and 21 uniallelic SLC12A3 mutations from 19 unrelated families, and normal controls were enrolled in an academic medical center.
|
21051746 |
2011 |