Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. - Wikidata - awgldk - TriplyDB

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

http://www.wikidata.org/entity/Q33781552

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Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.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 Arrhythmogenic right ventricular dysplasia/cardiomyopathy type 1: a light on molecular mechanisms N-cadherin/catenin complex as a master regulator of intercalated disc function Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy The ARVD/C genetic variants database: 2014 update Mechanistic basis of desmosome-targeted diseases Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia Genetics of sudden cardiac death syndromes New functions for alpha-catenins in health and disease: from cancer to heart regeneration Imaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy mimics: role of cardiovascular magnetic resonance A predictive model for canine dilated cardiomyopathy-a meta-analysis of Doberman Pinscher data Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update.Arrhythmogenic right ventricular cardiomyopathy 2012: diagnostic challenges and treatment.Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis.Arrhythmogenic Cardiomyopathy: Electrical and Structural Phenotypes The Genetic Challenges and Opportunities in Advanced Heart Failure The electrocardiographic manifestations of arrhythmogenic right ventricular dysplasia Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management.Desmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells.Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy Desmin mutations and arrhythmogenic right ventricular cardiomyopathy Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations The role of endomyocardial biopsy in ARVC: looking beyond histology in search of new diagnostic markers.Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.Electrocardiographic features of disease progression in arrhythmogenic right ventricular cardiomyopathy/dysplasia Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiom Loss of αT-catenin alters the hybrid adhering junctions in the heart and leads to dilated cardiomyopathy and ventricular arrhythmia following acute ischemia Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death Analysis of a Jup hypomorphic allele reveals a critical threshold for postnatal viability.Morphologic features of the recipient heart in patients having cardiac transplantation and analysis of the congruence or incongruence between the clinical and morphologic diagnoses Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling.

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P2860

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

http://www.wikidata.org/entity/Q33781552

description

2010 nî lūn-bûn

@nan

2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի փետրվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

@wuu

name

Compound and digenic heterozyg ...... ht ventricular cardiomyopathy.

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Compound and digenic heterozyg ...... ht ventricular cardiomyopathy.

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type

label

Compound and digenic heterozyg ...... ht ventricular cardiomyopathy.

@ast

Compound and digenic heterozyg ...... ht ventricular cardiomyopathy.

@en

prefLabel

Compound and digenic heterozyg ...... ht ventricular cardiomyopathy.

@ast

Compound and digenic heterozyg ...... ht ventricular cardiomyopathy.

@en

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J.JACC.2009.11.020

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Journal of the American College of Cardiology

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Compound and digenic heterozyg ...... ht ventricular cardiomyopathy.

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Alessandra Lorenzon

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Alessandra Rampazzo

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Andrea Nava

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Barbara Bauce

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Cristina Basso

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Frank Marcus

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Gaetano Thiene

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Gian Antonio Danieli

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Giorgia Beffagna

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Jeffrey Saffitz

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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)

Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy

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

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy

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

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

A repeating amino acid motif shared by proteins with diverse cellular roles

Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2

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Wojciech Zareba

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41426969

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arrhythmogenic right ventricular cardiomyopathy

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2852685

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