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, 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 and the long term treatment of genetic hypertension.
Razzaghy-Azar M et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess.
Narayanan R et al.
F1000research, 2016
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
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
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
Atanasov AG et al.
Journal of the American Society of Nephrology : Jasn, 2007
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
Juvenile hypertension, the role of genetically altered steroid metabolism.
Ferrari P et al.
Hormone Research, 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
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.
New MI et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
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
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
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.
Dave-Sharma S et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state.
Li A et al.
Journal of Hypertension, 1997
Truncation of the N- and C-terminal regions of the human 11beta-hydroxysteroid dehydrogenase type 2 enzyme and effects on solubility and bidirectional enzyme activity.
Obeyesekere VR et al.
Molecular and Cellular Endocrinology, 1997
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess.
White PC et al.
Endocrine Reviews, 1997
11 beta-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial Hypertension. Diagnosis and therapeutic approach in two young brothers.
Gourmelen M et al.
European Journal of Endocrinology, 1996
Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype.
Mune T et al.
Hypertension (dallas, Tex. : 1979), 1996
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess.
Ferrari P et al.
Molecular and Cellular Endocrinology, 1996
The 11 beta-hydroxysteroid dehydrogenase type II enzyme: biochemical consequences of the congenital R337C mutation.
Ferrari P et al.
Steroids, 1996
The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess.
Obeyesekere VR et al.
The Journal of Clinical Endocrinology and Metabolism, 1995
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
Wilson RC et al.
The Journal of Clinical Endocrinology and Metabolism, 1995
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