Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene - Wikidata - wikimedia - TriplyDB

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

http://www.wikidata.org/entity/Q24656100

about

Lacritin and other new proteins of the lacrimal functional unit Clinical assessment incorporating a personal genome Arrhythmogenic cardiomyopathy Arrhythmogenic ventricular cardiomyopathy: A paradigm shift from right to biventricular disease 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 Importance of genetic evaluation and testing in pediatric cardiomyopathy TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders The genetic background of arrhythmogenic right ventricular cardiomyopathy Pathogenesis of Arrhythmogenic Cardiomyopathy The ARVD/C genetic variants database: 2014 update Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy is a disease of cardiac stem cells Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy Next generation tools for the annotation of human SNPs Imaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.Arrhythmogenic right ventricular cardiomyopathy: diagnosis and risk stratification.Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update.Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy.Update on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C).Risk stratification in arrhythmogenic right ventricular cardiomyopathy.Arrhythmogenic Cardiomyopathy: Electrical and Structural Phenotypes Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.The electrocardiographic manifestations of arrhythmogenic right ventricular dysplasia Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management.Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India.Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.Assessment of inflammation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology.A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.

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P2860

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

http://www.wikidata.org/entity/Q24656100

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2008 nî lūn-bûn

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Arrhythmogenic right ventricul ...... se mutation in the TMEM43 gene

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Arrhythmogenic right ventricul ...... se mutation in the TMEM43 gene

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Arrhythmogenic right ventricul ...... se mutation in the TMEM43 gene

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Arrhythmogenic right ventricul ...... se mutation in the TMEM43 gene

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Arrhythmogenic right ventricul ...... se mutation in the TMEM43 gene

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Arrhythmogenic right ventricul ...... se mutation in the TMEM43 gene

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Arrhythmogenic right ventricul ...... se mutation in the TMEM43 gene

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Arrhythmogenic right ventricul ...... se mutation in the TMEM43 gene

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Annika F M Haywood

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Barry Gallagher

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Jörg-Detlef Drenckhahn

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Patrick S Parfrey

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P2860

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy

ExPASy: The proteomics server for in-depth protein knowledge and analysis

PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification

WebLogo: A Sequence Logo Generator

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

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

Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression

Human non-synonymous SNPs: server and survey

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