Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.M22K
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CLCN2

NM_004366.6:p.M22K

Associated Papers

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

Blinder AR et al.

European Journal of Endocrinology, 2026

Molecular and Genetics Perspectives on Primary Adrenocortical Hyperfunction Disorders.

Kim S et al.

International Journal of Molecular Sciences, 2024

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

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

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

Xu P et al.

Human Genetics, 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

Unravelling the Genetic Basis of Primary Aldosteronism.

Mourtzi N et al.

Nutrients, 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

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

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

Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.

Aristizabal Prada ET et al.

International Journal of Molecular Sciences, 2018

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

Scholl UI 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."