Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.T158A
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KCNJ5

NM_000890.5:p.T158A

Associated Papers

The genetics of hypertension.

Stölting G et al.

Nature Reviews. Nephrology, 2026

Nucleotide Substitution Biases in Related Cancer Driver Genes.

Khadre A et al.

International Journal of Molecular Sciences, 2025

Primary Aldosteronism: Small Molecule Antagonists of Mutant KCNJ5 Potassium Channels.

Mir-Bashiri S et al.

Hypertension (dallas, Tex. : 1979), 2025

Prevalence of KCNJ5 mutations in aldosterone-producing adenomas among Malaysian primary aldosteronism patients: Genotype-phenotype correlation.

Mohd Rizam NS et al.

The Malaysian Journal of Pathology, 2025

The adrenal gland and primary aldosteronism: anatomy, steroidogenesis, regulation, and genetic insights.

Long KC et al.

Frontiers in Endocrinology, 2025

Aldosterone-producing Multiple Micronodules With Several Different KCNJ5 Pathogenic Variants.

Oiwa Y et al.

Jcem Case Reports, 2024

KCNJ5 mutations in familial and non-familial primary aldosteronism.

Al-Salameh A

European Journal of Endocrinology, 2024

Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.

Mulatero P et al.

European Journal of Endocrinology, 2024

Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism.

Araujo-Castro M et al.

Frontiers in Endocrinology, 2024

Direct modulation of G protein-gated inwardly rectifying potassium (GIRK) channels.

Nguyen H et al.

Frontiers in Physiology, 2024

Identification of Potential Modulators of a Pathogenic G Protein-Gated Inwardly Rectifying K+ Channel 4 Mutant: In Silico Investigation in the Context of Drug Discovery for Hypertension.

Pitsillou E et al.

Molecules (basel, Switzerland), 2023

Primary aldosteronism: molecular medicine meets public health.

Azizan EAB et al.

Nature Reviews. Nephrology, 2023

Relevance of KCNJ5 in Pathologies of Heart Disease.

Meyer KM et al.

International Journal of Molecular Sciences, 2023

18-Oxocortisol: A journey.

Gomez-Sanchez CE et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2023

A genomic deep field view of hypertension.

Garimella PS et al.

Kidney International, 2023

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

Chang YY et al.

Frontiers in Endocrinology, 2023

Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma.

Parisien-La Salle S et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas.

Pitsava G et al.

Current Cardiology Reports, 2022

Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Pathophysiology of bilateral hyperaldosteronism.

Nanba K et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2022

A novel small-molecule selective activator of homomeric GIRK4 channels.

Cui M et al.

The Journal of Biological Chemistry, 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_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Genetics of Primary Aldosteronism.

Scholl UI

Hypertension (dallas, Tex. : 1979), 2022

Genetic Alterations in Benign Adrenal Tumors.

Pitsava G et al.

Biomedicines, 2022

How do Kir3.4 mutations cause hereditary hyperaldosteronism?

Kubo Y

The Journal of Physiology, 2022

A novel ion conducting route besides the central pore in an inherited mutant of G-protein-gated inwardly rectifying K+ channel.

Chen IS et al.

The Journal of Physiology, 2022

A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism.

Tseng CS et al.

Frontiers in Endocrinology, 2022

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Primary aldosteronism: Pathophysiological mechanisms of cell death and proliferation.

Tetti M et al.

Frontiers in Endocrinology, 2022

Progress on Genetic Basis of Primary Aldosteronism.

Karwacka I et al.

Biomedicines, 2021

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

KCNJ5 Somatic Mutations in Aldosterone-Producing Adenoma Are Associated with a Greater Recovery of Arterial Stiffness.

Chang YY et al.

Cancers, 2021

Pathophysiological and Pharmacological Characteristics of KCNJ5 157-159delITE Somatic Mutation in Aldosterone-Producing Adenomas.

Peng KY et al.

Biomedicines, 2021

Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.

Shimada H et al.

Biomedicines, 2021

GENETICS IN ENDOCRINOLOGY: Impact of race and sex on genetic causes of aldosterone-producing adenomas.

Nanba K et al.

European Journal of Endocrinology, 2021

Update on Genetics of Primary Aldosteronism.

Itcho K et al.

Biomedicines, 2021

KCNJ5 Somatic Mutations in Aldosterone-Producing Adenoma Are Associated With a Worse Baseline Status and Better Recovery of Left Ventricular Remodeling and Diastolic Function.

Chang YY et al.

Hypertension (dallas, Tex. : 1979), 2021

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

Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.

Vaduva P et al.

Journal of the Endocrine Society, 2020

Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma.

De Sousa K et al.

Hypertension (dallas, Tex. : 1979), 2020

Endoplasmic Reticulum Chaperone Calmegin Is Upregulated in Aldosterone-Producing Adenoma and Associates With Aldosterone Production.

Itcho K et al.

Hypertension (dallas, Tex. : 1979), 2020

Molecular and Electrophysiological Analyses of ATP2B4 Gene Variants in Bilateral Adrenal Hyperaldosteronism.

Hattangady NG et al.

Hormones & Cancer, 2020

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

Rege J et al.

Gland Surgery, 2020

Genetic causes of primary aldosteronism.

Seidel E et al.

Experimental & Molecular Medicine, 2019

The crosstalk between aldosterone and calcium metabolism in primary aldosteronism: A possible calcium metabolism-associated aberrant "neoplastic" steroidogenesis in adrenals.

Gao X et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2019

Primary Aldosteronism: KCNJ5 Mutations and Adrenocortical Cell Growth.

Yang Y et al.

Hypertension (dallas, Tex. : 1979), 2019

A de novo mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset hypertension.

Shi X et al.

Journal of Hypertension, 2019

Genetics of aldosterone-producing adenomas with pathogenic KCNJ5 variants.

Lerario AM et al.

Endocrine-related Cancer, 2019

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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."