Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.H295R
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KCNJ5

NM_000890.5:p.H295R

Associated Papers

Modulation of Calcium Signaling on Demand to Decipher the Molecular Mechanisms of Primary Aldosteronism.

Fedlaoui B et al.

Hypertension (dallas, Tex. : 1979), 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

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

Relevance of KCNJ5 in Pathologies of Heart Disease.

Meyer KM et al.

International Journal of Molecular Sciences, 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

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

Le Floch E et al.

Nature Communications, 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

Transcriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism.

Spyroglou A et al.

Cancers, 2021

Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.

Biondo ED et al.

American Journal of Physiology. Cell Physiology, 2021

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

Shimada H et al.

Biomedicines, 2021

Cushing Syndrome in a Pediatric Patient With a KCNJ5 Variant and Successful Treatment With Low-dose Ketoconazole.

Tatsi C et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

DNA Methylation of the Angiotensinogen Gene, AGT, and the Aldosterone Synthase Gene, CYP11B2 in Cardiovascular Diseases.

Takeda Y et al.

International Journal of Molecular Sciences, 2021

Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.

Weng S et al.

Plos One, 2021

33914752 (PubMed )
Supplement: pone.0249997.s006.xlsx › Pubmed

The Association of ARMC5 with the Renin-Angiotensin-Aldosterone System, Blood Pressure, and Glycemia in African Americans.

Joseph JJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Regulation of the KCNJ5 gene by SF-1 in the adrenal cortex: Complete genomic organization and promoter function.

Nishikido A et al.

Molecular and Cellular Endocrinology, 2020

Genetic causes of primary aldosteronism.

Seidel E et al.

Experimental & Molecular Medicine, 2019

ANO4 (Anoctamin 4) Is a Novel Marker of Zona Glomerulosa That Regulates Stimulated Aldosterone Secretion.

Maniero C et al.

Hypertension (dallas, Tex. : 1979), 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

Genetics of aldosterone-producing adenomas with pathogenic KCNJ5 variants.

Lerario AM et al.

Endocrine-related Cancer, 2019

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks.

Nanba K et al.

Hypertension (dallas, Tex. : 1979), 2019

Timeline of Advances in Genetics of Primary Aldosteronism.

Meyer LS et al.

Experientia Supplementum (2012), 2019

[Clinical and genetic features of Kallmann syndrome: an analysis of 5 cases].

Chen J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

GSTA1 Expression Is Correlated With Aldosterone Level in KCNJ5-Mutated Adrenal Aldosterone-Producing Adenoma.

Li X et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Mutations of the Twik-Related Acid-Sensitive K+ Channel 2 Promoter in Human Primary Aldosteronism.

Lenzini L et al.

Endocrinology, 2018

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

Scholl UI et al.

Nature Genetics, 2018

29403011 (PubMed )
Supplement: NIHMS929906-supplement-4.xlsx › Sheet1

Targeted disruption of the Kcnj5 gene in the female mouse lowers aldosterone levels.

Hardege I et al.

Clinical Science (london, England : 1979), 2018

Calneuron 1 Increased Ca2+ in the Endoplasmic Reticulum and Aldosterone Production in Aldosterone-Producing Adenoma.

Kobuke K et al.

Hypertension (dallas, Tex. : 1979), 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 somatic mutation 145-147delETEinsK in KCNJ5 increases aldosterone production.

Zheng FF et al.

Journal of Human Hypertension, 2017

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

Bandulik S

Acta Physiologica (oxford, England), 2017

Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma.

Scholl UI et al.

The Journal of Clinical Investigation, 2017

Physiological and Pathological Roles in Human Adrenal of the Glomeruli-Defining Matrix Protein NPNT (Nephronectin).

Teo AE et al.

Hypertension (dallas, Tex. : 1979), 2017

ACTH and Polymorphisms at Steroidogenic Loci as Determinants of Aldosterone Secretion and Blood Pressure.

MacKenzie SM et al.

International Journal of Molecular Sciences, 2017

A Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushing's Syndrome.

Tong A et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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

Yang T et al.

Hypertension (dallas, Tex. : 1979), 2016

Expression of inflammation-related genes in aldosterone-producing adenomas with KCNJ5 mutation.

Murakami M et al.

Biochemical and Biophysical Research Communications, 2016

Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production.

Hattangady NG et al.

Journal of Molecular Endocrinology, 2016

Cellular Pathophysiology of an Adrenal Adenoma-Associated Mutant of the Plasma Membrane Ca(2+)-ATPase ATP2B3.

Tauber P et al.

Endocrinology, 2016

Gonadotropin-Releasing Hormone Stimulate Aldosterone Production in a Subset of Aldosterone-Producing Adenoma.

Kishimoto R et al.

Medicine, 2016

Regulation of aldosterone secretion by Cav1.3.

Xie CB et al.

Scientific Reports, 2016

27098837 (PubMed )
Supplement: srep24697-s1.doc

Intracellular Molecular Differences in Aldosterone- Compared to Cortisol-Secreting Adrenal Cortical Adenomas.

Seidel E et al.

Frontiers in Endocrinology, 2016

Potassium channels related to primary aldosteronism: Expression similarities and differences between human and rat adrenals.

Chen AX et al.

Molecular and Cellular Endocrinology, 2015

Novel Insertion Mutation in KCNJ5 Channel Produces Constitutive Aldosterone Release From H295R Cells.

Hardege I et al.

Molecular Endocrinology (baltimore, Md.), 2015

NCI-H295R cell line as in vitro model of hyperaldosteronism lacks functional KCNJ5 (GIRK4; Kir3.4) channels.

Kienitz MC et al.

Molecular and Cellular Endocrinology, 2015

Insights from exome sequencing for endocrine disorders.

de Bruin C et al.

Nature Reviews. Endocrinology, 2015

Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas.

Gomez-Sanchez CE et al.

Molecular and Cellular Endocrinology, 2015

DACH1, a zona glomerulosa selective gene in the human adrenal, activates transforming growth factor-β signaling and suppresses aldosterone secretion.

Zhou J et al.

Hypertension (dallas, Tex. : 1979), 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."