Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.G442V
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SCNN1B

NM_000336.3:p.G442V

Associated Papers

Neonatal presentation of a patient with Liddle syndrome, South Africa.

Steyn N et al.

African Journal of Laboratory Medicine, 2023

Association of Genetic Variation in the Epithelial Sodium Channel Gene with Urinary Sodium Excretion and Blood Pressure.

Yang YJ et al.

Nutrients, 2018

Liddle Syndrome: Review of the Literature and Description of a New Case.

Tetti M et al.

International Journal of Molecular Sciences, 2018

High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension.

Jones ES et al.

American Journal of Hypertension, 2017

Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

Hanukoglu I et al.

Gene, 2016

Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.

Brennan ML et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016

Association of epithelial sodium channel β-subunit common polymorphism with essential hypertension families in a Chinese population.

Wang Y et al.

Cell Biochemistry and Biophysics, 2014

Role of the epithelial sodium channel in salt-sensitive hypertension.

Sun Y et al.

Acta Pharmacologica Sinica, 2011

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

Mutesa L et al.

Chest, 2009

Plasma potassium level is associated with common genetic variation in the beta-subunit of the epithelial sodium channel.

Gaukrodger N et al.

American Journal of Physiology. Regulatory, Integrative and Comparative Physiology, 2008

Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs.

Vormfelde SV et al.

Clinical Pharmacology and Therapeutics, 2007

A polymorphic GT short tandem repeat affecting beta-ENaC mRNA expression is associated with low renin essential hypertension.

González AA et al.

American Journal of Hypertension, 2007

Epithelial sodium channel allele T594M is not associated with blood pressure or blood pressure response to amiloride.

Hollier JM et al.

Hypertension (dallas, Tex. : 1979), 2006

Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives.

Kamide K et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2004

The epithelial sodium channel in hypertension: genetic heterogeneity and implications for treatment with amiloride.

Swift PA et al.

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2004

Epithelial sodium channel, salt intake, and hypertension.

Hummler E

Current Hypertension Reports, 2003

Genomic organization of the 5' end of human beta-ENaC and preliminary characterization of its promoter.

Thomas CP et al.

American Journal of Physiology. Renal Physiology, 2002

Aldosterone-related genetic effects in hypertension.

Warnock DG

Current Hypertension Reports, 2000

Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension.

Ambrosius WT et al.

Hypertension (dallas, Tex. : 1979), 1999

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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."