Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype
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The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex InheritanceGenetics of channelopathies associated with sudden cardiac deathProtein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesisJ-wave syndromes: Brugada and early repolarization syndromesDesmosome regulation and signaling in diseaseUltrastructure of the intercellular space in adult murine ventricle revealed by quantitative tomographic electron microscopyNanoscale visualization of functional adhesion/excitability nodes at the intercalated disc.Electrophysiological Mechanisms of Brugada Syndrome: Insights from Pre-clinical and Clinical StudiesGenetics of Brugada syndromeInfluence Of Novel Electrocardiographic Features Of Provocable Brugada ECG In Arrhythmogenic Cardiomyopathy And Its Exclusion By Lead AVRIon channel macromolecular complexes in cardiomyocytes: roles in sudden cardiac deathDesmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndromeIdentification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathyPhenotypic expression is a prerequisite for malignant arrhythmic events and sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy.Arrhythmogenic Cardiomyopathy: Electrical and Structural PhenotypesBeyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes.Microdomain-specific localization of functional ion channels in cardiomyocytes: an emerging concept of local regulation and remodelling.Dynamic conduction and repolarisation changes in early arrhythmogenic right ventricular cardiomyopathy versus benign outflow tract ectopy demonstrated by high density mapping & paced surface ECG analysis.Human iPSC-derived cardiomyocytes cultured in 3D engineered heart tissue show physiological upstroke velocity and sodium current density.Ankyrin-G coordinates intercalated disc signaling platform to regulate cardiac excitability in vivoDiseases caused by mutations in Nav1.5 interacting proteinsJ-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledgeGenetics of Brugada syndrome.Cell junctions in the specialized conduction system of the heartSuper-resolution imaging reveals that loss of the C-terminus of connexin43 limits microtubule plus-end capture and NaV1.5 localization at the intercalated disc.Striatins as plaque molecules of zonulae adhaerentes in simple epithelia, of tessellate junctions in stratified epithelia, of cardiac composite junctions and of various size classes of lateral adherens junctions in cultures of epithelia- and carcinoTissue-specific transcriptome assemblies of the marine medaka Oryzias melastigma and comparative analysis with the freshwater medaka Oryzias latipesGenetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.iPSC technology--Powerful hand for disease modeling and therapeutic screenNatural and Undetermined Sudden Death: Value of Post-Mortem Genetic InvestigationBrugada Syndrome: Clinical, Genetic, Molecular, Cellular, and Ionic Aspects.Relationship Between Arrhythmogenic Right Ventricular Cardiomyopathy and Brugada Syndrome: New Insights From Molecular Biology and Clinical Implications.Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.Novel Therapeutic Strategies for the Management of Ventricular Arrhythmias Associated with the Brugada SyndromeVariants in the SCN5A Promoter Associated With Various Arrhythmia PhenotypesIntercellular electrical communication in the heart: a new, active role for the intercalated disk.Mechanotransduction and Metabolism in Cardiomyocyte Microdomains.Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic AdvancesPatient-Specific and Genome-Edited Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Brugada Syndrome.
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P2860
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype
description
2014 nî lūn-bûn
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2014 թուականի Մարտին հրատարակուած գիտական յօդուած
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2014 թվականի մարտին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@ast
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@en
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@nl
type
label
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@ast
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@en
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@nl
prefLabel
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@ast
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@en
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@nl
P2093
P2860
P50
P3181
P1433
P1476
Missense mutations in plakophi ...... h a Brugada syndrome phenotype
@en
P2093
Anna Pfenniger
Changsung Kim
Esperanza Agullo-Pascual
Halina Chkourko Gusky
Huei-Sheng Vincent Chen
Mingliang Zhang
Silvia G Priori
Tiara Tirasawadichai
Xianming Lin
P2860
P304
P3181
P356
10.1161/CIRCULATIONAHA.113.003077
P407
P577
2013-12-18T00:00:00Z