Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.R374*
Back to variants list

HSD11B2

NM_000196.4:p.R374*

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

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

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Najafi M et al.

Orphanet Journal of Rare Diseases, 2019

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

The role of 11β-hydroxysteroid dehydrogenase type 2 in human hypertension.

Ferrari P

Biochimica Et Biophysica Acta, 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

Apparent mineralocorticoid excess.

Wilson RC et al.

Trends in Endocrinology and Metabolism: Tem, 2001

The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension.

Ferrari P et al.

Journal of Hypertension, 2000

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

Human hypertension caused by mutations in the 11 beta-hydroxysteroid dehydrogenase gene: a molecular analysis of apparent mineralocorticoid excess.

Whorwood CB et al.

Journal of Hypertension. Supplement : Official Journal of the International Society of Hypertension, 1996

Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene.

Stewart PM et al.

Lancet (london, England), 1996

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."