Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B2
Variant:p.R337H
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HSD11B2

NM_000196.4:p.R337H

Associated Papers

Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.

Vallabhaneni P et al.

Cen Case Reports, 2025

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

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

Variants of 11β-hydroxysteroid dehydrogenase (HSD11B) gene type 1 and 2 in Chinese obese adolescents.

Ruan LL et al.

Journal of Endocrinological Investigation, 2014

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

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

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

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

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

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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."