Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy
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Arrhythmogenic right ventricular cardiomyopathy/dysplasiaNebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosisDisease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.Clinical assessment incorporating a personal genomeAutoimmunoreactive IgGs from patients with postural orthostatic tachycardia syndromeInduced pluripotent stem cell-derived cardiomyocytes for cardiovascular disease modeling and drug screeningXin 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 diseasesDown-regulation of desmosomes in cultured cells: the roles of PKC, microtubules and lysosomal/proteasomal degradationThe cell biology of disease: cellular mechanisms of cardiomyopathy.Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathyMissense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitroConditional ablation of nonmuscle myosin II-B delineates heart defects in adult miceMechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyMechanistic basis of desmosome-targeted diseasesCardiac tissue-restricted deletion of plakoglobin results in progressive cardiomyopathy and activation of {beta}-catenin signalingMyozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivoGenome-wide association study identifies multiple susceptibility loci for pulmonary fibrosisGSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy.PATH-SCAN: a reporting tool for identifying clinically actionable variants.Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics.Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.Desmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells.Synergy analysis reveals association between insulin signaling and desmoplakin expression in palmitate treated HepG2 cellsDesmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle.Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathyMolecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutationsDesmosome assembly and dynamicsCompound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalitiesGenomics of heart failure.The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCα signaling.Hinged plakin domains provide specialized degrees of articulation in envoplakin, periplakin and desmoplakin.Arrhythmogenic right ventricular cardiomyopathy mutations alter shear response without changes in cell-cell adhesion.Desmoglein 2 mutant mice develop cardiac fibrosis and dilation.Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease.iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death.Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
P2860
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P2860
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին 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
@zh-hant
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
Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Desmosomal dysfunction due to ...... cular dysplasia/cardiomyopathy
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Blasé Carabello
Debra L Kearney
Frank Marcus
Gian Antonio Danieli
Gilberto DeFreitas
Jeffrey E Saffitz
Kathleen J Green
Lisa M Godsel
Lois I Brandon
P304
P3181
P356
10.1161/01.RES.0000241482.19382.C6
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P577
2006-09-15T00:00:00Z