Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.T594M
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SCNN1B

NM_000336.3:p.T594M

Associated Papers

The role of genetics in maternal susceptibility to preeclampsia in women of African ancestry.

Ishmail H et al.

Journal of Reproductive Immunology, 2023

Kidney ion handling genes and their interaction in blood pressure control.

An C et al.

Bioscience Reports, 2022

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

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

Polymorphism profiling of nine high altitude relevant candidate gene loci in acclimatized sojourners and adapted natives.

Tomar A et al.

Bmc Genetics, 2015

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

Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study.

Zhao Q et al.

Circulation. Cardiovascular Genetics, 2011

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

Sun Y et al.

Acta Pharmacologica Sinica, 2011

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

Selective genotyping reveals association between the epithelial sodium channel gamma-subunit and systolic blood pressure.

Büsst CJ et al.

Hypertension (dallas, Tex. : 1979), 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

Genetics of salt-sensitive hypertension.

Strazzullo P et al.

Current Hypertension Reports, 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

A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension.

Rayner BL et al.

Journal of Hypertension, 2003

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

Japanese individuals do not harbor the T594M mutation but do have the P592S mutation in the C-terminus of the beta-subunit of the epithelial sodium channel: the Ohasama study.

Matsubara M et al.

Journal of Hypertension, 2000

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

Polymorphisms of the gamma subunit of the epithelial Na+ channel in essential hypertension.

Persu A et al.

Journal of Hypertension, 1999

Genetic linkage of beta and gamma subunits of epithelial sodium channel to systolic blood pressure.

Wong ZY et al.

Lancet (london, England), 1999

Molecular genetics of human hypertension.

Luft FC

Journal of Hypertension, 1998

Mutations in the carboxy terminus of the beta and gamma subunits of the epithelial sodium channel are not present in patients with hypertensive crisis.

Födinger M et al.

European Journal of Clinical Investigation, 1998

A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans.

Su YR et al.

Journal of the American Society of Nephrology : Jasn, 1996

The epithelial sodium channel in hypertension.

Warnock DG

Current Hypertension Reports, 0

The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension.

Jones ES et al.

Cardiovascular Journal of Africa, 0

Reversal of convention: from man to experimental animal in elucidating the function of the renal amiloride-sensitive sodium channel.

Hummler E

Experimental Nephrology, 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."