Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.G151R
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KCNJ5

NM_000890.5:p.G151R

Associated Papers

The genetics of hypertension.

Stölting G et al.

Nature Reviews. Nephrology, 2026

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

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

Mir-Bashiri S et al.

Hypertension (dallas, Tex. : 1979), 2025

Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations.

Maeda LK et al.

Archives of Endocrinology and Metabolism, 2025

Ion channel mutations and cancer.

Cao X et al.

Biochemistry and Biophysics Reports, 2025

ccfDNA analysis for the classification of adrenocortical adenomas.

Xu M et al.

Journal of Endocrinological Investigation, 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

Multiomics analysis unveils the cellular ecosystem with clinical relevance in aldosterone-producing adenomas with KCNJ5 mutations.

Yokomoto-Umakoshi M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40009643 (PubMed )
Supplement: pnas.2421489122.sapp.pdf

Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism.

Mai X et al.

Endocrine Journal, 2025

Evolutionary Characteristics in Primary Aldosteronism Patients.

Gao Y et al.

Hypertension (dallas, Tex. : 1979), 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

An In Silico Investigation of the Pathogenic G151R G Protein-Gated Inwardly Rectifying K+ Channel 4 Variant to Identify Small Molecule Modulators.

Pitsillou E et al.

Biology, 2024

Molecular and Genetics Perspectives on Primary Adrenocortical Hyperfunction Disorders.

Kim S et al.

International Journal of Molecular Sciences, 2024

Severe hydronephrosis complicated with primary aldosteronism: a case report and review of the literature.

Sun J et al.

Journal of Medical Case Reports, 2024

Double CYP11B1/CYP11B2 Immunohistochemistry and Detection of KCNJ5 Mutations in Primary Aldosteronism.

Caroccia B et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Adrenocortical Tumor Associated With Pathogenic Variant in KCNJ5 and DNA Methylation of CYP11B2 in Primary Aldosteronism.

Aiga K 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

Nutrigenomics of inward rectifier potassium channels.

Ferreira G et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

Relevance of KCNJ5 in Pathologies of Heart Disease.

Meyer KM et al.

International Journal of Molecular Sciences, 2023

Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.

Wu X et al.

Nature Genetics, 2023

37291193 (PubMed )
Supplement: 41588_2023_1403_MOESM1_ESM.pdf

[The genetic background of primary aldosteronism].

Vékony B et al.

Orvosi Hetilap, 2023

A genomic deep field view of hypertension.

Garimella PS et al.

Kidney International, 2023

Recurrence of Primary Aldosteronism After Surgery in Aldosterone-producing Adenoma With KCNJ5 Gene Mutation.

Aiga K et al.

Jcem Case Reports, 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

Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.

Al-Hamed MH et al.

Human Mutation, 2022

Identification of risk loci for primary aldosteronism in genome-wide association studies.

Le Floch E et al.

Nature Communications, 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

Hypomethylation associated vitamin D receptor expression in ATP1A1 mutant aldosterone-producing adenoma.

Nanao Y et al.

Molecular and Cellular Endocrinology, 2022

Genetics of Primary Aldosteronism.

Scholl UI

Hypertension (dallas, Tex. : 1979), 2022

Genetic Alterations in Benign Adrenal Tumors.

Pitsava G et al.

Biomedicines, 2022

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

Shalomov B et al.

The Journal of Physiology, 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

False-negative aldosterone-to-renin ratio in a primary aldosteronism patient complicated with primary polydipsia: case report.

Zheng C et al.

Gland Surgery, 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

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