Associated Papers
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › C-region
Trafficking and localisation to the plasma membrane of Nav 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.
Dulsat G et al.
Biology of the Cell, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Sodium channel β subunits: emerging targets in channelopathies.
O'Malley HA et al.
Annual Review of Physiology, 2015
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
Monogenic atrial fibrillation as pathophysiological paradigms.
Mahida S et al.
Cardiovascular Research, 2011
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.
Watanabe H et al.
Circulation. Arrhythmia and Electrophysiology, 2009
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