Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.Y152C
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KCNJ5

NM_000890.5:p.Y152C

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

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

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

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

Genetic Alterations in Benign Adrenal Tumors.

Pitsava G et al.

Biomedicines, 2022

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Progress on Genetic Basis of Primary Aldosteronism.

Karwacka I et al.

Biomedicines, 2021

Update on Genetics of Primary Aldosteronism.

Itcho K et al.

Biomedicines, 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

Pathogenesis and treatment of primary aldosteronism.

Zennaro MC et al.

Nature Reviews. Endocrinology, 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

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

Shi X et al.

Journal of Hypertension, 2019

Na/K Pump Mutations Associated with Primary Hyperaldosteronism Cause Loss of Function.

Meyer DJ et al.

Biochemistry, 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

Familial Sinus Node Disease Caused by a Gain of GIRK (G-Protein Activated Inwardly Rectifying K+ Channel) Channel Function.

Kuß J et al.

Circulation. Genomic and Precision Medicine, 2019

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

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

Bandulik S

Acta Physiologica (oxford, England), 2017

Somatic and inherited mutations in primary aldosteronism.

Fernandes-Rosa FL 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

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

Zennaro MC et al.

Annales D'endocrinologie, 2016

An Update on Familial Hyperaldosteronism.

Korah HE et al.

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

Inherited forms of mineralocorticoid hypertension.

Zennaro MC et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2015

The molecular basis of primary aldosteronism: from chimeric gene to channelopathy.

Lenzini L et al.

Current Opinion in Pharmacology, 2015

Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients.

Wang B et al.

Medicine, 2015

[Genetic alterations in primary aldosteronism].

Zennaro MC et al.

Medecine Sciences : M/s, 2015

KCNJ5 mutations are the most frequent genetic alteration in primary aldosteronism.

Williams TA et al.

Hypertension (dallas, Tex. : 1979), 2015

An update on novel mechanisms of primary aldosteronism.

Zennaro MC et al.

The Journal of Endocrinology, 2015

Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

Update in primary aldosteronism.

Stowasser M

The Journal of Clinical Endocrinology and Metabolism, 2015

A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.

Kuppusamy M et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas.

Tauber P et al.

Endocrinology, 2014

Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature.

Adachi M et al.

Hormone Research in Paediatrics, 2014

a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

Monticone S et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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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."