Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.G24D
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CLCN2

NM_004366.6:p.G24D

Associated Papers

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

Blinder AR et al.

European Journal of Endocrinology, 2026

The adrenal gland and primary aldosteronism: anatomy, steroidogenesis, regulation, and genetic insights.

Long KC et al.

Frontiers in Endocrinology, 2025

CryoEM structures of the human CLC-2 voltage-gated chloride channel reveal a ball-and-chain gating mechanism.

Xu M et al.

Elife, 2024

Adrenal Anion Channels: New Roles in Zona Glomerulosa Physiology and in the Pathophysiology of Primary Aldosteronism.

Stölting G et al.

Handbook of Experimental Pharmacology, 2024

Primary aldosteronism: molecular medicine meets public health.

Azizan EAB et al.

Nature Reviews. Nephrology, 2023

Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42.

Ma T et al.

Nature Communications, 2023

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

Pitsava G et al.

Current Cardiology Reports, 2022

Proton-gated anion transport governs macropinosome shrinkage.

Zeziulia M et al.

Nature Cell Biology, 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

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

GENETICS IN ENDOCRINOLOGY: Impact of race and sex on genetic causes of aldosterone-producing adenomas.

Nanba K et al.

European Journal of Endocrinology, 2021

Update on Genetics of Primary Aldosteronism.

Itcho K et al.

Biomedicines, 2021

Unravelling the Genetic Basis of Primary Aldosteronism.

Mourtzi N et al.

Nutrients, 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

Identification of Somatic Mutations in CLCN2 in Aldosterone-Producing Adenomas.

Rege J et al.

Journal of the Endocrine Society, 2020

Pathogenesis and treatment of primary aldosteronism.

Zennaro MC et al.

Nature Reviews. Endocrinology, 2020

CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy.

Fu SJ et al.

Cells, 2020

Elevated aldosterone and blood pressure in a mouse model of familial hyperaldosteronism with ClC-2 mutation.

Schewe J et al.

Nature Communications, 2019

Genetic causes of primary aldosteronism.

Seidel E et al.

Experimental & Molecular Medicine, 2019

CLCN2 clicks with aldosterone-producing adenomas, too!

Scholl UI

European Journal of Endocrinology, 2019

A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma.

Dutta RK et al.

European Journal of Endocrinology, 2019

Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism.

Göppner C et al.

Nature Communications, 2019

Molecular mechanisms in primary aldosteronism

De Sousa K et al.

Journal of Molecular Endocrinology, 2019

Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels.

Stowasser M et al.

Current Hypertension Reports, 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

Timeline of Advances in Genetics of Primary Aldosteronism.

Meyer LS et al.

Experientia Supplementum (2012), 2019

Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.

Aristizabal Prada ET et al.

International Journal of Molecular Sciences, 2018

Hypertension: CLCN2 chloride channel mutations in primary aldosteronism.

Allison SJ

Nature Reviews. Nephrology, 2018

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

Fernandes-Rosa FL et al.

Nature Genetics, 2018

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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."