|
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
This case report confirms the feasibility of using readily accessible blood cells to study the expression of the SLC12A3 gene, a procedure that may facilitate further studies of the functional genomics of Gitelman syndrome.
|
16221718 |
2006 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Bartter's syndrome may be linked to dysfunction of Na-K-2Cl cotransporter (NKCC2), renal outer medullary K channel (ROMK), or Cl channel Kb (ClC-Kb), while Gitelman's syndrome may be linked to Na-Cl cotransporter (NCCT) dysfunction.
|
12911530 |
2003 |
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Knowledge of this novel mutation may be helpful for understanding the pathophysiology of GS and the function of TSC as well as for providing genetic counseling.
|
18520105 |
2008 |
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Renal clearance studies and TSC gene analysis by amplification and direct sequencing are useful diagnostic tools for confirming a diagnosis of Gitelman's syndrome.
|
16370563 |
2005 |
|
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 |
Biomarker
|
disease |
BEFREE |
The renal phenotype of the parvalbumin knockout mice pointed to PVALB as a candidate gene for GS for SLC12A3-negative cases.
|
18469313 |
2008 |
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Conversely, impaired function of the Na+,K+,2Cl- cotransporter (NKCC2), the renal outer medullary K+ channel (ROMK1), and the renal epithelial Cl- channel ClCKb/Barttin causes Bartter syndrome and defective Na+,Cl+ cotransporter (NCCT) Gitelman syndrome, salt-wasting disorders with hypotension.
|
15980941 |
2005 |
|
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 |
Biomarker
|
disease |
BEFREE |
Genetic test of SLC12A3 confirmed Gitelman syndrome.
|
30922139 |
2019 |
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
Biomarker
|
disease |
BEFREE |
Our study confirms that the human TSC gene is involved in Gitelman syndrome.
|
8865231 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We sequenced the 26 coding exons of SLC12A3 in a family in which the proband and her father had a late onset GS.
|
19420906 |
2009 |
|
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 |
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 |