Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.I157del1
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KCNJ5

NM_000890.5:p.I157del1

Associated Papers

KCNJ5 mutations in familial and non-familial primary aldosteronism.

Al-Salameh A

European Journal of Endocrinology, 2024

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

Chang YY et al.

Frontiers in Endocrinology, 2023

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

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

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

Primary aldosteronism diagnostics: KCNJ5 mutations and hybrid steroid synthesis in aldosterone-producing adenomas.

Rege J et al.

Gland Surgery, 2020

[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

Prevalence of Somatic KCNJ5 Mutations in Thai Patients With Aldosterone-Producing Adrenal Adenomas.

Warachit W et al.

Journal of the Endocrine Society, 2018

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

The prevalence of CTNNB1 mutations in primary aldosteronism and consequences for clinical outcomes.

Wu VC et al.

Scientific Reports, 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

Genetics of Aldosterone-Producing Adenoma in Korean Patients.

Hong AR et al.

Plos One, 2016

Prevalence and clinical correlates of somatic mutation in aldosterone producing adenoma-Taiwanese population.

Wu VC et al.

Scientific Reports, 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

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 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

Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.

Williams TA et al.

Hypertension (dallas, Tex. : 1979), 2014

Overview of the genetic determinants of primary aldosteronism.

Al-Salameh A et al.

The Application of Clinical Genetics, 2014

Role of KCNJ5 in familial and sporadic primary aldosteronism.

Mulatero P et al.

Nature Reviews. Endocrinology, 2013

Characterization of a novel somatic KCNJ5 mutation delI157 in an aldosterone-producing adenoma.

Murthy M et al.

Journal of Hypertension, 2012

Microarray, qPCR, and KCNJ5 sequencing of aldosterone-producing adenomas reveal differences in genotype and phenotype between zona glomerulosa- and zona fasciculata-like tumors.

Azizan EA et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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