|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Since he had two missense mutations (R261C and L623P) in the thiazide-sensitive Na-Cl cotransporter (TSC) gene (SLC12A3), he was diagnosed as having GS.
|
17044667 |
2006 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.
|
28325561 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome.
|
17414160 |
2007 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
|
10988270 |
2000 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gitelman syndrome (GS) is a rare autosomal recessive disease caused by loss-of-function mutations in the SLC12A3 gene, and is characterized by hypokalemia and metabolic alkalosis.
|
27216017 |
2017 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We encountered two sporadic Japanese patients with Gitelman syndrome and analyzed their TSC gene.
|
12008755 |
2002 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.
|
26306968 |
2017 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
|
11168953 |
2001 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Now, we show 12 additional mutations consistent with a loss of function of the Na-Cl cotransporter in GS.
|
8900229 |
1996 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive co-transporter causes Gitelman syndrome.
|
20552229 |
2010 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To better model human GS caused by a specific mutation in the thiazide-sensitive Na(+) -Cl(-) cotransporter (NCC) gene SLC12A3, we generated a nonsense Ncc Ser707X knockin mouse corresponding to human p.Ser710X (c.2135C>A), a recurrent mutation with severe phenotypes in Chinese GS patients.
|
20848653 |
2010 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Inclusion criteria for this review were: 1) Studies that analyzed the SLC12A3 gene in individuals with Type 2 Diabetes and Gitelman Syndrome.
|
31660880 |
2019 |
|
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 |
BEFREE |
Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder, which is caused by the mutations in SLC12A3.
|
27529443 |
2016 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Demonstration of a novel point mutation within the SLC12A3 gene in our cohort of Gypsy families with Gitelman syndrome is highly suggestive of a founder effect.
|
14675033 |
2004 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MATERIAL AND METHODS We searched the literature about Chinese patients with GS in the PubMed database up to July 2018 and also included 8 GS Chinese patients from our hospital in our analysis that explored the features of SLC12A3 gene.
|
31398183 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SLC12A3 gene mutations were found in all patients with GS.
|
17954289 |
2007 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It should also be noted that single heterozygous SLC12A3 gene mutations can cause disease symptoms and other genetic mutations might be involved in the pathogenesis of GS.
|
29808706 |
2018 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Linkage of Gitelman's syndrome to the TSC locus was confirmed in our families with a maximum two-point Lod score Z = 4.70 (theta = 0.001) for marker locus D16S526.
|
8897553 |
1996 |
|
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 |
GeneticVariation
|
disease |
LHGDN |
The majority of patients with Gitelman syndrome carry inactivating mutations in the SLC12A3 gene encoding the sodium-chloride cotransporter located in the distal convoluted tubule.
|
14675033 |
2004 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We now demonstrate complete linkage of Gitelman's syndrome to the locus encoding the renal thiazide-sensitive Na-Cl cotransporter, and identify a wide variety of non-conservative mutations, consistent with loss of function alleles, in affected subjects.
|
8528245 |
1996 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review.
|
28685938 |
2017 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
We searched for SLC12A3 gene mutations in 21 Italian patients with the clinical and biochemical features of GS (hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and the absence of nephrocalcinosis).
|
12112667 |
2002 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we report two sporadic cases of Gitelman's syndrome and two novel genotypes of SLC12A3.
|
17873326 |
2007 |