Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy - Wikidata - awgldk - TriplyDB

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

http://www.wikidata.org/entity/Q28291969

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseases The genetic background of arrhythmogenic right ventricular cardiomyopathy Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro The ARVD/C genetic variants database: 2014 update Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update.Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy.Clinical Presentation and Outcomes by Sex in Arrhythmogenic Right Ventricular Cardiomyopathy: Findings from the North American ARVC Registry.Genetic factors in arrhythmogenic right ventricular cardiomyopathy: need for a DNA bank!Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.Sex-dependent gene regulatory networks of the heart rhythm.Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.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.Desmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells.Arrhythmogenic right ventricular cardiomyopathy (ARVC): cardiovascular magnetic resonance update.DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population.Genetics of inherited cardiomyopathy.Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations.Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study.Plakophilin-2 loss promotes TGF-β1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes.The desmosome and pemphigus.Role of cardiovascular magnetic resonance imaging in arrhythmogenic right ventricular dysplasia Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC/D): A Systematic Literature Review Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry.Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population.Desmosomes: just cell adhesion or is there more?Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC).The junctions that don't fit the scheme: special symmetrical cell-cell junctions of their own kind.Clinical screening and genetic testing.Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

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P2860

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

http://www.wikidata.org/entity/Q28291969

description

2006 nî lūn-bûn

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2006 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2006 թվականի հունվարին հրատարակված գիտական հոդված

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2006年の論文

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Clinical expression of plakoph ...... ght ventricular cardiomyopathy

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Alison Evans

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Anthony L Shaw

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Antonios Pantazis

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Deirdre Ward

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Hatim Y Ebrahim

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Mark Norman

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Nobuhiko Hitomi

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Perry M Elliott

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Srijita Sen-Chowdhry

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William J McKenna

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10.1161/CIRCULATIONAHA.105.561654

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Angeliki Asimaki

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2006-01-24T00:00:00Z

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16415378

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arrhythmogenic right ventricular cardiomyopathy