DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy - Wikidata - wikimedia - TriplyDB

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

http://www.wikidata.org/entity/Q34568365

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Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy Computational prediction of furin cleavage sites by a hybrid method and understanding mechanism underlying diseases The desmosome 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 TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation 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 Mechanistic basis of desmosome-targeted diseases Characterization of desmoglein expression in the normal prostatic gland. Desmoglein 2 is an independent prognostic factor for aggressive prostate cancer Cadherins as targets for genetic diseases.Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy.Update on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C).SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia.Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.Electrocardiographic features of arrhythmogenic right ventricular dysplasia The electrocardiographic manifestations of arrhythmogenic right ventricular dysplasia Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India.Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations Peripheral blood signature of vasodilator-responsive pulmonary arterial hypertension.Autoimmune and infectious skin diseases that target desmogleins.Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations.Generation and characterization of monoclonal antibodies against the proregion of human desmoglein-2.Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population.Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy Are centenarians genetically predisposed to lower disease risk?Role of cardiovascular magnetic resonance imaging in arrhythmogenic right ventricular dysplasia Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy.Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC/D): A Systematic Literature Review Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry.Desmosomes: just cell adhesion or is there more?Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations.

P2860

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P2860

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

http://www.wikidata.org/entity/Q34568365

description

2006 nî lūn-bûn

@nan

2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի ապրիլին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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type

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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prefLabel

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

@ast

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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American Journal of Human Genetics

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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P2093

April Tucker

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Crystal Tichnell

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Cynthia James

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Daniel P Judge

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Darshan Dalal

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Eunpi Cho

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Harry C Dietz

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Mark M Awad

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Nuria Amat-Alarcon

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Stuart D Russell

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P2860

Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins

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

Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome

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

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

Novel insights into cadherin processing by subtilisin-like convertases

A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43

Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion

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10.1086/504393

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1

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79

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David A. Bluemke

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7009263

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