Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.L168R
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KCNJ5

NM_000890.5:p.L168R

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

ABCC3 Is a Differential Marker of CYP11B2-Negative Zona Glomerulosa Cells in Human Adrenal Cortex.

Pang Y et al.

Endocrine Pathology, 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

Primary Aldosteronism and Hypokalemia-induced Rhabdomyolysis in a Patient with Aldosterone-producing Adenoma: A Case Report and Literature Review.

Ohara N et al.

Internal Medicine (tokyo, Japan), 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

Diagnostic and therapeutic approaches to a case of pregnancy complicated by bilateral adrenocortical adenomas with primary aldosteronism and Cushing's syndrome.

Chen Y et al.

Endocrine, 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

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

KCNJ5 mutations in familial and non-familial primary aldosteronism.

Al-Salameh A

European Journal of Endocrinology, 2024

Steroids-producing nodules: a two-layered adrenocortical nodular structure as a precursor lesion of cortisol-producing adenoma.

Fukumoto T et al.

Ebiomedicine, 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

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

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

Chang YY et al.

Frontiers in Endocrinology, 2023

Different cell compositions and a novel somatic KCNJ5 variant found in a patient with bilateral adrenocortical adenomas secreting aldosterone and cortisol.

Zhao L 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

The Entity of Connshing Syndrome: Primary Aldosteronism with Autonomous Cortisol Secretion.

Carsote M

Diagnostics (basel, Switzerland), 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

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

Case Report: Primary Aldosteronism Due to Bilateral Aldosterone-Producing Micronodules With HISTALDO Classical and Contralateral Non-Classical Pathology.

Chen YJ 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

Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma.

Gomez-Sanchez CE et al.

Frontiers in Endocrinology, 2022

Disorders of the adrenal cortex: Genetic and molecular aspects.

Pitsava G et al.

Frontiers in Endocrinology, 2022

Familial Hyperaldosteronism Type 3 with a Rapidly Growing Adrenal Tumor: An In Situ Aldosterone Imaging Study.

Takizawa N et al.

Current Issues in Molecular Biology, 2021

Characterization of a mutated KCNJ5 gene, G387R, in unilateral primary aldosteronism.

Chueh JS et al.

Journal of Molecular Endocrinology, 2021

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

Wu CH et al.

Biomedicines, 2021

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

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