Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.G151E
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KCNJ5

NM_000890.5:p.G151E

Associated Papers

The genetics of hypertension.

Stölting G et al.

Nature Reviews. Nephrology, 2026

Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature.

Araujo-Castro M et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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

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

A genomic deep field view of hypertension.

Garimella PS et al.

Kidney International, 2023

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

Pitsava G et al.

Current Cardiology Reports, 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

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

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

Shimada H et al.

Biomedicines, 2021

Update on Genetics of Primary Aldosteronism.

Itcho K et al.

Biomedicines, 2021

Pathogenesis and treatment of primary aldosteronism.

Zennaro MC et al.

Nature Reviews. Endocrinology, 2020

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

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

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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Genetics of aldosterone-producing adenomas with pathogenic KCNJ5 variants.

Lerario AM et al.

Endocrine-related Cancer, 2019

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

Pons Fernández N et al.

Reviews in Endocrine & Metabolic Disorders, 2019

Inherited Forms of Primary Hyperaldosteronism: New Genes, New Phenotypes and Proposition of A New Classification.

Perez-Rivas LG et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019

Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.

Aristizabal Prada ET et al.

International Journal of Molecular Sciences, 2018

GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.

Monticone S et al.

European Journal of Endocrinology, 2018

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

Familial hyperaldosteronism type III.

Monticone S et al.

Journal of Human Hypertension, 2017

A Novel Case of Somatic KCNJ5 Mutation in Pediatric-Onset Aldosterone-Producing Adenoma.

Uchida N et al.

Journal of the Endocrine Society, 2017

Somatic and inherited mutations in primary aldosteronism.

Fernandes-Rosa FL et al.

Journal of Molecular Endocrinology, 2017

Genetic characterization of a mouse line with primary aldosteronism.

Perez-Rivas LG et al.

Journal of Molecular Endocrinology, 2017

Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3.

Gomez-Sanchez CE et al.

Molecular and Cellular Endocrinology, 2017

Genetics of primary hyperaldosteronism.

Dutta RK et al.

Endocrine-related Cancer, 2016

Small-Conductance Ca2+-Activated Potassium Channels Negatively Regulate Aldosterone Secretion in Human Adrenocortical Cells.

Yang T et al.

Hypertension (dallas, Tex. : 1979), 2016

SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism.

Zennaro MC et al.

Annales D'endocrinologie, 2016

Hyperplasia in glands with hormone excess.

Marx SJ

Endocrine-related Cancer, 2016

An Update on Familial Hyperaldosteronism.

Korah HE et al.

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

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

Genetic and potential autoimmune triggers of primary aldosteronism.

Williams TA et al.

Hypertension (dallas, Tex. : 1979), 2015

Inherited forms of mineralocorticoid hypertension.

Zennaro MC et al.

Best Practice & Research. Clinical Endocrinology & 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."