Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy - Wikidata - wikimedia - TriplyDB

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

http://www.wikidata.org/entity/Q28288328

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia Cardiomyopathy classification: ongoing debate in the genomics era A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy E-cadherin and plakoglobin recruit plakophilin3 to the cell border to initiate desmosome assembly Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly Identification of the junctional plaque protein plakophilin 3 in cytoplasmic particles containing RNA-binding proteins and the recruitment of plakophilins 1 and 3 to stress granules The desmosome Arrhythmogenic cardiomyopathy Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis Xin proteins and intercalated disc maturation, signaling and diseases 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 Plakophilin-3 is required for late embryonic amphibian development, exhibiting roles in ectodermal and neural tissues 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 Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stability Genetic bases of arrhythmogenic right ventricular Cardiomyopathy Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers Plakophilins: multifunctional scaffolds for adhesion and signaling Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro The ARVD/C genetic variants database: 2014 update 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 Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency.Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes Arrhythmogenic right ventricular cardiomyopathy is a disease of cardiac stem cells 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 Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy A novel kind of tumor type-characteristic junction: plakophilin-2 as a major protein of adherens junctions in cardiac myxomata Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy A Proteomics Approach to Identify New Putative Cardiac Intercalated Disk Proteins Ordered assembly of the adhesive and electrochemical connections within newly formed intercalated disks in primary cultures of adult rat cardiomyocytes

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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

http://www.wikidata.org/entity/Q28288328

description

2004 nî lūn-bûn

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2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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type

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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Nature Genetics

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Mutations in the desmosomal pr ...... ght ventricular cardiomyopathy

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Beate Michely

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Brenda Gerull

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Bruce B Lerman

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Calum A MacRae

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Craig T Basson

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Deborah A McDermott

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Eric Schulze-Bahr

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Katja S Grossmann

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Ludwig Thierfelder

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Matthias Paul

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque

Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2

Desmosomal cadherins

Are desmosomes more than tethers for intermediate filaments?

Intercellular adhesion, signalling and the cytoskeleton

Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling

Right ventricular cardiomyopathy and sudden death in young people.

Right ventricular dysplasia: a report of 24 adult cases.

Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S

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10.1038/NG1461

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11

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36

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Jörg-Detlef Drenckhahn

Günter Breithardt

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2004-10-17T00:00:00Z

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8226705

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15489853

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arrhythmogenic right ventricular cardiomyopathy