|
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor.
|
15967794 |
2005 |
|
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension.
|
15908963 |
2005 |
|
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.
|
10884226 |
2000 |
|
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypertensive disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
The S810L mutation within the human mineralocorticoid receptor (MR S810L) induces severe hypertension and switches progesterone from antagonist to agonist.
|
15908963 |
2005 |
|
Hypertensive disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese.
|
16419642 |
2005 |
|
Hypertensive disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
Identification of steroid ligands able to inactivate the mineralocorticoid receptor harboring the S810L mutation responsible for a severe form of hypertension.
|
15134816 |
2004 |
|
Hypertensive disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
A missense mutation at codon 810 (Ser --> Leu) of the mineralocorticoid receptor was recently observed in a family with early manifestation of hypertension.
|
15117605 |
2004 |
|
Hypertensive disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related.
|
12538613 |
2003 |
|
Hypertensive disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
We describe a mutation in the mineralocorticoid receptor (MR), S810L, that causes early-onset hypertension that is markedly exacerbated in pregnancy.
|
10884226 |
2000 |
|
Pregnancy associated hypertension
|
|
0.020 |
GeneticVariation
|
BEFREE |
One hundred women with pregnancy-induced hypertension and 100 with normal pregnancy were studied to measure serum aldosterone and progesterone levels and for the genotypification of the -344T/C polymorphism of CYP11B2 gene and the S810L mutation of MR by RFLP-PCR and SSP, respectively.
|
20535141 |
2011 |
|
Pregnancy associated hypertension
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our data suggest that the S810L missense mutation of the mineralocorticoid receptor does not play a major role in the etiology of pregnancy-induced hypertension in a German /Turkish population.
|
15117605 |
2004 |
|
Essential Hypertension
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese.
|
16419642 |
2005 |