Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy - Wikidata - wikimedia - TriplyDB

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

http://www.wikidata.org/entity/Q28287122

about

Arrhythmogenic cardiomyopathy Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology.Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.Almanac 2014: cardiomyopathies.Desmosomes in the heart: a review of clinical and mechanistic analyses.Arrhythmogenic cardiomyopathy: a disease of intercalated discs.Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy.Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia Cardiomyocytes of the Heart and Pulmonary Veins: Novel Contributors to Asthma?Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.Unraveling Missing Genes and Missing Inheritance in Arrhythmogenic Cardiomyopathy.

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P2860

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

http://www.wikidata.org/entity/Q28287122

description

2013 nî lūn-bûn

@nan

2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2013年の論文

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2013年論文

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2013年論文

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2013年論文

@zh-hk

2013年論文

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2013年論文

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2013年论文

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name

Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

@ast

Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

@en

Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

@nl

type

label

Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

@ast

Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

@en

Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

@nl

prefLabel

Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

@ast

Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

@en

Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

@nl

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European Journal of Human Genetics

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Identification of a PKP2 gene ...... ght ventricular cardiomyopathy

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Andrea Nava

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Carlo Nobile

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Emanuela Dazzo

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Giovanni Vazza

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Ilena Egle Astrid Li Mura

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Luciano Daliento

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Manuela Fanciulli

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Maria Luisa Mostacciuolo

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P2860

Mechanisms of change in gene copy number

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy

A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular 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

The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

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

PLINK: a tool set for whole-genome association and population-based linkage analyses

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1226-31

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10.1038/EJHG.2013.39

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Alessandra Rampazzo

Alessandra Lorenzon

Marzia De Bortoli

Giorgia Beffagna

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2013-11-01T00:00:00Z

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arrhythmogenic right ventricular cardiomyopathy

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