|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Recently, we have studied an unusual patient with mild low-renin hypertension and a homozygous mutation in the HSD11B2 gene.
|
9707624 |
1998 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in the HSD11B2 gene encoding the kidney (11-HSD2) isozyme of 11beta-hydroxysteroid dehydrogenase cause the syndrome of apparent mineralocorticoid excess, a form of salt-sensitive hypertension.
|
11196453 |
2000 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in the HSD11K (HSD11B2) gene encoding this isozyme cause a genetic form of hypertension, the syndrome of apparent mineralocorticoid excess (AME).
|
8865170 |
1996 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
It has been reported that the G534A(Glu178/Glu) polymorphism in the HSD11B2 gene is associated with hypertension.
|
22278213 |
2012 |
|
Hypertensive disease
|
0.700 |
AlteredExpression
|
group |
BEFREE |
Furthermore, in the rat, an association between placental 11 beta HSD activity and the subsequent development of hypertension in the offspring has been reported.
|
7883847 |
1995 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A microsatellite marker within the HSD11B2 gene associates with salt sensitivity and hypertension--phenotypes characterising diabetic nephropathy.
|
11916625 |
2002 |
|
Hypertensive disease
|
0.700 |
AlteredExpression
|
group |
BEFREE |
Therefore, impaired 11beta-HSD2 protein stability rather than reduced gene expression or loss of catalytic activity seems to be responsible for the development of hypertension in some individuals with AME.
|
17314322 |
2007 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Epidemiological data suggests that polymorphic variability in the HSD11B2 gene determines salt sensitivity in the general population, which is a key predisposing factor to adult onset hypertension in some patients.
|
16980198 |
2006 |
|
Hypertensive disease
|
0.700 |
Biomarker
|
group |
BEFREE |
In conclusion, 19-nor-P did not inhibit human 11beta-HSD2 and seems not to be involved in human hypertension.
|
19811365 |
2009 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Thus, depending on the degree of loss of enzyme activity, 11 beta HSD2 mutations can cause a spectrum of phenotypes ranging from severe, life-threatening hypertension in infancy to a milder form of the disease in adults.
|
10726708 |
2000 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding 11beta-HSD2 (HSD11B2) account for an inherited form of hypertension, the syndrome of "Apparent Mineralocorticoid Excess" (AME) where cortisol induces hypertension and hypokalaemia.
|
15134813 |
2004 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
AME is due to a mutation in the 11 beta-HSD2 gene, and is an example of human hypertension arising from a single gene defect.
|
8538347 |
1996 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
11beta-HSD2 protects the mineralocorticoid receptor from cortisol excess; mutations in the HSD11B2 gene explain an inherited form of hypertension, the syndrome of 'apparent mineralocorticoid excess', in which 'Cushing's disease of the kidney' results in cortisol-mediated mineralocorticoid excess.
|
12943516 |
2003 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations generating inactive enzymes have been described in the HSD11B2 gene in the congenital syndrome of apparent mineralocorticoid excess (AME)--a low renin form of hypertension.
|
9247735 |
1997 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations of the gene encoding 11beta-HSD-2 are responsible for the syndrome of apparent mineralocorticoid excess, in which cortisol illicitly occupies mineralocorticoid receptors, causing hypertension and hypokalaemia.
|
9370341 |
1997 |
|
Hypertensive disease
|
0.700 |
Biomarker
|
group |
BEFREE |
The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of human hypertension thought to result from a deficiency of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD).
|
7670488 |
1995 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Apparent mineralocorticoid excess (AME) is a rare autosomal recessive genetic disorder causing severe hypertension in childhood due to a deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2), which is encoded by HSD11B2.
|
27526338 |
2016 |
|
Hypertensive disease
|
0.700 |
Biomarker
|
group |
BEFREE |
The hypertension phenotype is also epigenetically modulated by HSD11B2 methylation in subjects heterozygous for the mutation.
|
26126204 |
2015 |
|
Hypertensive disease
|
0.700 |
AlteredExpression
|
group |
BEFREE |
Post-translational histone methylation at different histone 3 lysine residues was also observed to control the expression of genes related to AH as lysine-specific demethylase-1(LSD1), HSD11B2, and epithelial sodium channel subunit α (SCNN1A).
|
25035152 |
2015 |
|
Hypertensive disease
|
0.700 |
AlteredExpression
|
group |
BEFREE |
These results reveal that cholic acid is able to induce hypertension and provide evidence that cholic acid inhibits the transcription of both 11beta-HSD2 and CYP11B2 in vasculature, leading to lower aldosterone and higher corticosterone production in vessels and increased vasoconstrictor responses to norepinephrine.
|
10399886 |
1999 |
|
Hypertensive disease
|
0.700 |
AlteredExpression
|
group |
BEFREE |
In congenital 11beta-HSD deficiency and after administration of 11beta-HSD inhibitors, suppression of 11beta-HSD2 activity in the kidney has been believed to cause renal mineralocorticoid excess, resulting in sodium retention and hypertension.
|
10334808 |
1999 |
|
Hypertensive disease
|
0.700 |
Biomarker
|
group |
BEFREE |
To evaluate nonclassic AME (NC-AME) due to partial 11β-HSD2 insufficiency and its association with hypertension, mineralocorticoid receptor (MR) activation, and inflammatory parameters.
|
30239803 |
2019 |
|
Hypertensive disease
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Impaired 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2)-dependent cortisol inactivation can lead to electrolyte dysbalance, hypertension and cardiometabolic disease.
|
28131847 |
2017 |
|
Hypertensive disease
|
0.700 |
Biomarker
|
group |
BEFREE |
Licorice root, whose active ingredient, glycerrhetinic acid (GA), inhibits renal 11β-HSD2, and thereby causes hypertension in some individuals.
|
28624548 |
2017 |
|
Hypertensive disease
|
0.700 |
Biomarker
|
group |
BEFREE |
However, the serum F/E ratio was associated with BP, suggesting a role of 11βHSD2 in mineralocorticoid hypertension.
|
25907225 |
2016 |