-
Sequence defects (16q22.1) cause Monogenic Hypertension Syndrome in children (with muscle weakness in severe forms)as result of apparent mineralocorticoid excess.
-
High systemic 11beta-HSD2 activity in preeclampsia but not in intrauterine growth retardation suggests an increased cortisol deactivation in maternal tissue in preeclampsia rather than in the placenta.
-
Analyses demonstrated a trend in the association between maternal trait anxiety and depression symptoms with placental gene expression of NR3C1. We found a significant interaction with maternal ethnicity. In Caucasians only, prenatal trait anxiety and depressive symptoms were associated with an increase in placental NR3C1 expression, and prenatal life events were associated with a down regulation of HSD11B2
-
mutations that allow the formation of an inactive dimer, alter substrate/coenzyme binding, or impair structural stability of HSD11B2 yield severe apparent mineralocorticoid excess (AME). In contrast, mutations that cause an indirect disruption of substrate binding or mildly alter intramolecular interactions result in type 2 AME.
-
Six sequence variations were observed. Four mutations were indicated in the coding region of HSD11B2 and the other two in 3'-UTR. Two SNPs: c.468C > A and c.534G > A were found to be in total disequilibrium. High variability in HSD11B2 sequence was indicated in the study population, but the relevance of observed SNPs to gestational hypertension or pre-eclampsia development was not confirmed.
-
the role of 11beta-HSD2 in determining birth weight
-
SUMOylation of 11beta-HSD2 at residue K266 modulates cortisol-mediated MR nuclear translocation independently of effects on transactivation.
-
11beta-HSD2 activity is not reduced in patients with drug resistant hypertension, suggesting that variation in the conversion of cortisol to cortisone does not contribute to development of antihypertensive treatment resistance.
-
abundantly localized in syncytial layer of the chorionic villi and the decidual epithelium
-
The data demonstrate for the first time that 11b- HSD2 plays a key role in the pathophysiology of malignant epidermal cells.
-
DNA sequence analysis of affected members of Apparent mineralocorticoid excess family revealed homozygous c.799A>G mutations within exon 4 of HSD11B2, corresponding to a p.T267A mutation of 11betaHSD2.
-
activation of Hedgehog signaling is crucial for the upregulation and maintenance of 11beta-HSD2 expression in placenta
-
Reciprocal regulation of the glucocorticoid metabolizing enzymes, 11beta-hydroxysteroid dehydrogenase types 1 and 2, is associated with steroid-responsiveness and disease remission in childhood nephrotic syndrome.
-
Rac1 GTPase regulates 11beta-HSD2 expression, mineralocorticoid receptor activation, and mineralocorticoid receptor-mediated pro-fibrotic signaling.
-
enhancer of zeste homolog 2 (EZH2) accounts for the silence of 11beta-HSD2 expression via trimethylation of histone H3 lysine 27 at the promoter of the 11beta-HSD2 gene.
-
Sensitivity to glucocorticoids did not appear to be mediated by changes in the expression of the beta variant of the glucocorticoid receptor or the 11-beta hydroxysteroid dehydrogenase 2 isozyme.
-
Review of the role of HSD11B2 in pregnancy complications, fetal diseases, and later life morbidity.
-
Since increased DNA methylation in HSD11B2 and FKBP5 are seen in a minority of bisulfite sequencing clones, these epigenetic changes, and functional consequences, may affect subpopulations of placental cells.
-
significant positive correlation between DNA methylation of 11beta-HSD2 CpG 1 in infants and maternal sensitivity.
-
The 11beta-HSD2 expression decreased in pre-eclamptic women of Chinese Han ethnicity, but was not interrelated with the promoter methylation status.
