Associated Papers
Novel homozygous pathogenic variant in HSD11B2 as a cause of apparent mineralocorticoid excess.
Roche-Gomez A et al.
Journal of Hypertension, 2025
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
Spatial architectures of somatic mutations in normal prostate, benign prostatic hyperplasia and coexisting prostate cancer.
Chae J et al.
Experimental & Molecular Medicine, 2024
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
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
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
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
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
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
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
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.
Nunez BS et al.
Hypertension (dallas, Tex. : 1979), 1999
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
Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state.
Li A et al.
Journal of Hypertension, 1997