|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
UNIPROT |
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 |
Mutations in the renal Na-Cl cotransporter have been shown to cause Gitelman's syndrome.
|
8640224 |
1996 |
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our study confirms that the human TSC gene is involved in Gitelman syndrome.
|
8865231 |
1996 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
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 |
In conclusion, the L623P mutation in the thiazide-sensitive Na-Cl cotransporter gene is suggested to impair the transporter activity, and to underlie this familial Gitelman's syndrome; Gitelman's syndrome observed in this kindred has been inherited in an autosomal recessive fashion.
|
8954067 |
1996 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
In conclusion, the L623P mutation in the thiazide-sensitive Na-Cl cotransporter gene is suggested to impair the transporter activity, and to underlie this familial Gitelman's syndrome; Gitelman's syndrome observed in this kindred has been inherited in an autosomal recessive fashion.
|
8954067 |
1996 |
|
Gitelman Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
This study was performed to determine whether peripheral blood mononuclear cells (PBMC) express NCCT mRNA and whether defective PBMC NaCl cotransport could be demonstrated in GS.
|
9596079 |
1998 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Finally, mutations of the thiazide-sensitive sodium-chloride cotransporter (NCCT) are associated with Gitelman's syndrome, in which hypocalciuria and hypomagnesaemia are notable features.
|
9690036 |
1998 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
|
9734597 |
1998 |
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
These data indicate that the loss of NCC activity in the mouse causes only subtle perturbations of sodium and fluid volume homeostasis, but renal handling of Mg2+ and Ca2+ are altered, as observed in Gitelman's syndrome.
|
9786924 |
1998 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that the R642C mutation in TSC is critically important for impairment of this cotransporter function and also suggest the necessity of further investigations in the genetic background of Gitelman's syndrome.
|
10561140 |
1999 |
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
Finally, mutations of the thiazide-sensitive sodium-chloride cotransporter (NCCT) are associated with Gitelman's syndrome.
|
10561751 |
1999 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
In this study, possible mutations in the TSC gene of six Japanese patients clinically diagnosed with GS were investigated.
|
10616841 |
2000 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
|
10616841 |
2000 |
|
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 |
UNIPROT |
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
|
11168953 |
2001 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Finally, genetic investigation revealed the presence of mutations in the SLC12A3 gene leading to the proper diagnosis of Gitelman's syndrome.
|
11316244 |
2001 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The hypocalciuric, hypomagnesemic variant of Bartter syndrome (Gitelman syndrome), presents in early adulthood with predominantly musculoskeletal symptoms and is due to mutations in the gene encoding the Na-Cl cotransporter (NCCT).
|
11780689 |
2001 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Genetic analysis identified a compound heterozygous mutation in the Na-Cl cotransporter gene (NCCT), confirming the diagnosis of GS.
|
11940055 |
2002 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We encountered two sporadic Japanese patients with Gitelman syndrome and analyzed their TSC gene.
|
12008755 |
2002 |