Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.S865R
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CLCN2

NM_004366.6:p.S865R

Associated Papers

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

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

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

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."