Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.E145Q
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KCNJ5

NM_000890.5:p.E145Q

Associated Papers

The genetics of hypertension.

Stölting G et al.

Nature Reviews. Nephrology, 2026

Adrenal histologic and genetic characteristics of primary aldosteronism in late adulthood.

Blinder AR et al.

European Journal of Endocrinology, 2026

Nucleotide Substitution Biases in Related Cancer Driver Genes.

Khadre A et al.

International Journal of Molecular Sciences, 2025

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

Maeda LK et al.

Archives of Endocrinology and Metabolism, 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

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

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

Chang YY et al.

Frontiers in Endocrinology, 2023

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

Pitsava G et al.

Current Cardiology Reports, 2022

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

KCNJ5 Somatic Mutations in Aldosterone-Producing Adenoma Are Associated with a Greater Recovery of Arterial Stiffness.

Chang YY et al.

Cancers, 2021

Update on Genetics of Primary Aldosteronism.

Itcho K et al.

Biomedicines, 2021

KCNJ5 Somatic Mutations in Aldosterone-Producing Adenoma Are Associated With a Worse Baseline Status and Better Recovery of Left Ventricular Remodeling and Diastolic Function.

Chang YY et al.

Hypertension (dallas, Tex. : 1979), 2021

Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Nanba K et al.

Frontiers in Endocrinology, 2021

Pathogenesis and treatment of primary aldosteronism.

Zennaro MC et al.

Nature Reviews. Endocrinology, 2020

Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Bao M et al.

Journal of Medical Genetics, 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

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

[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

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

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

Genetics of primary hyperaldosteronism.

Dutta RK et al.

Endocrine-related Cancer, 2016

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

Murakami M et al.

Biochemical and Biophysical Research Communications, 2016

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

Zennaro MC et al.

Annales D'endocrinologie, 2016

Genetics of Aldosterone-Producing Adenoma in Korean Patients.

Hong AR et al.

Plos One, 2016

An Update on Familial Hyperaldosteronism.

Korah HE et al.

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

KCNJ5 Mutations: Sex, Salt and Selection.

Williams TA et al.

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

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

Hardege I et al.

Molecular Endocrinology (baltimore, Md.), 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 and molecular aspects of hypertension.

Padmanabhan S et al.

Circulation Research, 2015

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

Williams TA et al.

Hypertension (dallas, Tex. : 1979), 2015

Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma.

Zheng FF et al.

Hypertension (dallas, Tex. : 1979), 2015

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

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue.

Monticone S et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Novel KCNJ5 mutations in sporadic aldosterone-producing adenoma reduce Kir3.4 membrane abundance.

Cheng CJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Comparison of cardiovascular complications in patients with and without KCNJ5 gene mutations harboring aldosterone-producing adenomas.

Kitamoto T et al.

Journal of Atherosclerosis and Thrombosis, 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."