Associated Papers
Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency.
Charoenngam N et al.
Orphanet Journal of Rare Diseases, 2025
Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.
Vallabhaneni P et al.
Cen Case Reports, 2025
Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.
Lu YT et al.
Journal of Translational Medicine, 2022
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.
Fan P et al.
Endocrine, 2020
Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome.
Carvajal CA et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome.
Tapia-Castillo A et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Serum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Carvajal CA et al.
American Journal of Hypertension, 2018
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.
Yau M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
11β-HSD2 SUMOylation Modulates Cortisol-Induced Mineralocorticoid Receptor Nuclear Translocation Independently of Effects on Transactivation.
Jiménez-Canino R et al.
Endocrinology, 2017
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation.
Pizzolo F et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Variants of 11β-hydroxysteroid dehydrogenase (HSD11B) gene type 1 and 2 in Chinese obese adolescents.
Ruan LL et al.
Journal of Endocrinological Investigation, 2014
11β-Hydroxysteroid dehydrogenase type 2 in hypertension: comparison of phenotype and genotype analysis.
Kosicka K et al.
Journal of Human Hypertension, 2013
The role of 11β-hydroxysteroid dehydrogenase type 2 in human hypertension.
Ferrari P
Biochimica Et Biophysica Acta, 2010
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.
Isokpehi RD et al.
Bioinformatics and Biology Insights, 2010
In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence.
Manning JR et al.
Physiological Genomics, 2010
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience.
Morineau G et al.
Journal of the American Society of Nephrology : Jasn, 2006
[Deficiency of 11beta-hydroxysteroid dehydrogenase type 2 (syndrome of apparent mineralocorticoid excess)].
Mune T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Apparent mineralocorticoid excess syndrome: an overview.
Palermo M et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene.
Lavery GG et al.
Hypertension (dallas, Tex. : 1979), 2003
Hypertension and the cortisol-cortisone shuttle.
Quinkler M et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.
Carvajal CA et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
11beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess.
White PC
The American Journal of the Medical Sciences, 2001
Apparent mineralocorticoid excess.
Wilson RC et al.
Trends in Endocrinology and Metabolism: Tem, 2001
A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension.
Odermatt A et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Structural analysis of the 11beta-hydroxysteroid dehydrogenase type 2 gene in end-stage renal disease.
Zaehner T et al.
Kidney International, 2000
Role of the 11beta-hydroxysteroid dehydrogenase type 2 in blood pressure regulation.
Ferrari P et al.
Kidney International, 2000
The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension.
Ferrari P et al.
Journal of Hypertension, 2000
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess.
Morineau G et al.
Hypertension (dallas, Tex. : 1979), 1999
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess.
Rogoff D et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
A genetic defect resulting in mild low-renin hypertension.
Wilson RC et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess.
White PC et al.
Endocrine Reviews, 1997
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.
Cerame BI et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0
Mutations in the 11 beta-hydroxysteroid dehydrogenase type II enzyme associated with hypertension and possibly stillbirth.
Krozowski ZS et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 0