|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We aimed to synthesize epigenomic findings in HTN namely (a) angiotensin-converting enzyme 2 (ACE II) gene, (b) Toll-like receptor 2 (TLR2) gene, (c) interferon γ (IFN-γ) gene, and (d) Capping Actin Protein, Gelosin-Like (<i>CAPG</i>) <i>gene</i>, adducin 1(ADD1) gene, (e) Tissue inhibitor of metalloproteinase 3 (<i>TIMP3</i>), (f) mesoderm specific transcript (MEST) loci, (g) sodium channel epithelial 1 alpha subunit 2 (SCNN1B), (h) glucokinase (CKG) gene (i) angiotensin II receptor, type1 (AGTR1), and DNA methylation (mDNA).
|
31805646 |
2019 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Of the total 766 patients, those with rare variants in exon 13 of either SCNN1B or SCNN1G had a significantly earlier onset of hypertension (24.7 ± 7.5 vs. 29.0 ± 7.7 years, P = 0.015) and lower serum potassium (3.57 ± 0.59 vs. 3.96 ± 0.41 mmol/l, P = 0.007) than those without rare variants.
|
28915228 |
2018 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
There were 3 NSV of SCNN1B (R206Q, G442V, and R563Q); 2 previously described and 1 associated with hypertension.
|
28052878 |
2017 |
|
Hypertensive disease
|
0.500 |
Biomarker
|
group |
BEFREE |
We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome.
|
25378078 |
2015 |
|
Hypertensive disease
|
0.500 |
Biomarker
|
group |
BEFREE |
We recently demonstrated that heme oxygenase-1 (HO-1) protects against hypertension in a rat model of placental ischemia; however, whether HO-1 regulation of β-ENaC contributes to the beneficial effects of HO-1 is unknown.
|
24553299 |
2014 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The R563Q mutation of β-ENaC is associated with hypertension within affected kindreds, but does not usually cause the full Liddle's syndrome phenotype.
|
21107496 |
2011 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the alpha-, beta- and gamma-ENaC subunit genes (SCNN1A, SCNN1B and SCNN1G) are associated with multi-system pseudohypoaldosteronism (PHA), and mutations in the PY motif of carboxy-terminal region of beta and gamma subunits are associated with Liddle syndrome of hereditary hypertension.
|
20064610 |
2010 |
|
Hypertensive disease
|
0.500 |
Biomarker
|
group |
CTD_human |
A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome.
|
19344079 |
2009 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We have tested whether common genetic variation in the gene encoding the beta-subunit of the epithelial sodium channel (SCNN1B) affects plasma potassium and blood pressure level in a study of 1,425 members of 248 families ascertained on a proband with hypertension.
|
18184758 |
2008 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
LHGDN |
A polymorphic GT short tandem repeat affecting beta-ENaC mRNA expression is associated with low renin essential hypertension.
|
17586416 |
2007 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The purpose of this study was to determine whether mutations of SCNN1B or SCNN1G were present in a patient clinically suspected to have Liddle syndrome with no familial history of hypertension.
|
17634077 |
2007 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
|
15661075 |
2005 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The roles of these missense mutations in the SCNN1B or SCNN1G gene identified in hypertensive patients are not clear in the pathogenesis of hypertension and the regulation of electrolytes.
|
15198480 |
2004 |
|
Hypertensive disease
|
0.500 |
Biomarker
|
group |
CTD_human |
The roles of these missense mutations in the SCNN1B or SCNN1G gene identified in hypertensive patients are not clear in the pathogenesis of hypertension and the regulation of electrolytes.
|
15198480 |
2004 |
|
Hypertensive disease
|
0.500 |
Biomarker
|
group |
CTD_human |
The Thr594Met polymorphism of the ENaC beta-subunit gene SCNN1B occurs exclusively in Black individuals, with a frequency of 6-8% in those with hypertension.
|
15174897 |
2004 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The Thr594Met polymorphism of the ENaC beta-subunit gene SCNN1B occurs exclusively in Black individuals, with a frequency of 6-8% in those with hypertension.
|
15174897 |
2004 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
LHGDN |
A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension.
|
12714866 |
2003 |
|
Hypertensive disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Liddle's syndrome of hypertension and pseudoaldosteronism has been shown to arise from mutations in SCNN1B and SCNN1G.
|
8824886 |
1996 |
|
Hypertensive disease
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|