A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy
about
Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient heartsA new perspective on intercalated disc organization: implications for heart diseaseMutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathyDisparate effects of different mutations in plakoglobin on cell mechanical behaviorArrhythmogenic cardiomyopathyXin proteins and intercalated disc maturation, signaling and diseasesDesmosome regulation and signaling in diseaseMutations 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 diseasesTMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathyInteractions between ankyrin-G, Plakophilin-2, and Connexin43 at the cardiac intercalated discCardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutationThe ARVD/C genetic variants database: 2014 updateLoss of cadherin-binding proteins β-catenin and plakoglobin in the heart leads to gap junction remodeling and arrhythmogenesisComprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathyMechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyDesmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practiceIdentification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathyMechanistic basis of desmosome-targeted diseasesCardiac tissue-restricted deletion of plakoglobin results in progressive cardiomyopathy and activation of {beta}-catenin signalingRecurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasiaLack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entityImaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathyElectrocardiographic features of arrhythmogenic right ventricular dysplasiaThe electrocardiographic manifestations of arrhythmogenic right ventricular dysplasiaDesmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells.Cardiac Arrhythmia: In vivo screening in the zebrafish to overcome complexity in drug discoveryMutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathyAntibody phage display assisted identification of junction plakoglobin as a potential biomarker for atherosclerosis.Histidine-rich calcium binding protein: the new regulator of sarcoplasmic reticulum calcium cycling.Genomics of heart failure.Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.Altered desmosomal proteins in granulomatous myocarditis and potential pathogenic links to arrhythmogenic right ventricular cardiomyopathy.Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.Analysis of a Jup hypomorphic allele reveals a critical threshold for postnatal viability.Beyond cell adhesion: the role of armadillo proteins in the heartCell-cell connection to cardiac diseaseThe desmosome and pemphigus.Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy.Role of cardiovascular magnetic resonance imaging in arrhythmogenic right ventricular dysplasia
P2860
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P2860
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@ast
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@en
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@en-gb
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@nl
type
label
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@ast
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@en
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@en-gb
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@nl
prefLabel
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@ast
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@en
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@en-gb
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@nl
P2860
P50
P921
P3181
P356
P1476
A novel dominant mutation in p ...... ght ventricular cardiomyopathy
@en
P2093
Jeffrey E Saffitz
Paul Matthias
P2860
P304
P3181
P356
10.1086/521633
P407
P577
2007-11-01T00:00:00Z