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Human Mutation
Article . 2015
License: taverne
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Human Mutation
Article . 2015 . Peer-reviewed
License: Wiley TDM
Data sources: Crossref
Human Mutation
Article . 2015
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The ARVD/C Genetic Variants Database: 2014 Update

2014 Update
Authors: LAZZARINI, ELISABETTA; Jongbloed JD; PILICHOU, KALLIOPI; THIENE, GAETANO; BASSO, CRISTINA; Bikker H; Charbon B; +3 Authors

The ARVD/C Genetic Variants Database: 2014 Update

Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by myocardial atrophy, fibro-fatty replacement, and a high risk of ventricular arrhythmias that lead to sudden death. In 2009, genetic data from 57 publications were collected in the arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) Genetic Variants Database (freeware available at http://www.arvcdatabase.info), which comprised 481 variants in eight ACM-associated genes. In recent years, deep genetic sequencing has increased our knowledge of the genetics of ACM, revealing a large spectrum of nucleotide variations for which pathogenicity needs to be assessed. As of April 20, 2014, we have updated the ARVD/C database into the ARVD/C database to contain more than 1,400 variants in 12 ACM-related genes (PKP2, DSP, DSC2, DSG2, JUP, TGFB3, TMEM43, LMNA, DES, TTN, PLN, CTNNA3) as reported in more than 160 references. Of these, only 411 nucleotide variants have been reported as pathogenic, whereas the significance of the other approximately 1,000 variants is still unknown. This comprehensive collection of ACM genetic data represents a valuable source of information on the spectrum of ACM-associated genes and aims to facilitate the interpretation of genetic data and genetic counseling.

Countries
Netherlands, Italy
Keywords

RIGHT-VENTRICULAR CARDIOMYOPATHY, PLAKOGLOBIN CAUSES, Genetic Variation, DYSPLASIA/CARDIOMYOPATHY, Desmosomes, DILATED CARDIOMYOPATHY, DIAGNOSIS, PALMOPLANTAR KERATODERMA, Databases, Genetic, Humans, genetics, DOMINANT ARRHYTHMOGENIC CARDIOMYOPATHY, PLAKOPHILIN-2 MUTATIONS, Registries, cardiomyopathy, SUDDEN CARDIAC DEATH, database, Arrhythmogenic Right Ventricular Dysplasia, Genetic Association Studies, DESMOPLAKIN

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    influence
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
86
Top 10%
Top 10%
Top 1%
Green
hybrid