Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.E246G
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KCNJ5

NM_000890.5:p.E246G

Associated Papers

KCNJ5 mutations in familial and non-familial primary aldosteronism.

Al-Salameh A

European Journal of Endocrinology, 2024

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

Chang YY et al.

Frontiers in Endocrinology, 2023

A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5).

Shalomov B et al.

The Journal of Physiology, 2022

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Novel Mutations Detection with Next-Generation Sequencing and Its Association with Clinical Outcome in Unilateral Primary Aldosteronism.

Wu CH et al.

Biomedicines, 2021

34572353 (PubMed )
Supplement: biomedicines-09-01167-s001.zip › biomedicines-1321403-supplementary.pdf

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

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

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

Bandulik S

Acta Physiologica (oxford, England), 2017

Somatic and inherited mutations in primary aldosteronism.

Fernandes-Rosa FL et al.

Journal of Molecular Endocrinology, 2017

KCNJ5 Mutations: Sex, Salt and Selection.

Williams TA et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2015

Novel Insertion Mutation in KCNJ5 Channel Produces Constitutive Aldosterone Release From H295R Cells.

Hardege I et al.

Molecular Endocrinology (baltimore, Md.), 2015

The molecular basis of primary aldosteronism: from chimeric gene to channelopathy.

Lenzini L et al.

Current Opinion in Pharmacology, 2015

Novel KCNJ5 mutations in sporadic aldosterone-producing adenoma reduce Kir3.4 membrane abundance.

Cheng CJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."