Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.E145K
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KCNJ5

NM_000890.5:p.E145K

Associated Papers

Somatic drivers in aldosterone-producing adenomas and nodules: Insights from a Brazilian cohort of primary aldosteronism.

Guimaraes AG et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

The role of iPSC research for insight into inherited arrhythmia conditions.

Josvai MB et al.

Heart Rhythm, 2025

Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism.

Chang YY et al.

Frontiers in Endocrinology, 2023

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Nanba K et al.

Frontiers in Endocrinology, 2021

Primary aldosteronism diagnostics: KCNJ5 mutations and hybrid steroid synthesis in aldosterone-producing adenomas.

Rege J et al.

Gland Surgery, 2020

[Clinical and genetic features of Kallmann syndrome: an analysis of 5 cases].

Chen J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Of channels and pumps: different ways to boost the aldosterone?

Bandulik S

Acta Physiologica (oxford, England), 2017

Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients.

Wang B et al.

Medicine, 2015

KCNJ5 mutations are the most frequent genetic alteration in primary aldosteronism.

Williams TA et al.

Hypertension (dallas, Tex. : 1979), 2015

Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma.

Zheng FF et al.

Hypertension (dallas, Tex. : 1979), 2015

Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.

Kuppusamy M et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas.

Tauber P et al.

Endocrinology, 2014

Overview of the genetic determinants of primary aldosteronism.

Al-Salameh A et al.

The Application of Clinical Genetics, 2014

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

Azizan EA et al.

Nature Genetics, 2013

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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."