Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.V259M
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KCNJ5

NM_000890.5:p.V259M

Associated Papers

KCNJ5 mutations in familial and non-familial primary aldosteronism.

Al-Salameh A

European Journal of Endocrinology, 2024

Genetic screening of hypertensive patients with aldosterone hypersecretion under conditions of stress.

Mourtzi N et al.

Hormones (athens, Greece), 2022

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Gnomad_0325322.xlsx › Sheet1

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Familial hyperaldosteronism type III a novel case and review of literature.

Pons Fernández N et al.

Reviews in Endocrine & Metabolic Disorders, 2019

Familial hyperaldosteronism type III.

Monticone S et al.

Journal of Human Hypertension, 2017

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

Bandulik S

Acta Physiologica (oxford, England), 2017

Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion.

Sertedaki A et al.

Clinical Endocrinology, 2016

Stress-induced Aldosterone Hyper-Secretion in a Substantial Subset of Patients With Essential Hypertension.

Markou A et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Primary Aldosteronism: Seismic Shifts.

Funder JW

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."