Topic
DSC2
About: DSC2 is a research topic. Over the lifetime, 157 publications have been published within this topic receiving 21048 citations. The topic is also known as: ARVD11 & CDHF2.
Papers published on a yearly basis
Papers
University of Arizona1, University College London Hospitals NHS Foundation Trust2, University of Padua3, National Institutes of Health4, Johns Hopkins University5, Utrecht University6, University of Rochester7, Pierre-and-Marie-Curie University8, Harvard University9, Mount Sinai St. Luke's and Mount Sinai Roosevelt10
TL;DR: Modifications of the Task Force Criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia represent a working framework to improve the diagnosis and management of this condition.
Abstract: Background— In 1994, an International Task Force proposed criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) that facilitated recognition and ...
2,594 citations
TL;DR: The finding of a deletion in plakoglobin in ARVC suggests that the proteins involved in cell-cell adhesion play an important part in maintaining myocyte integrity, and when junctions are disrupted, cell death, and fibrofatty replacement occur.
1,135 citations
TL;DR: Arrhythmogenic right ventricular cardiomyopathy is a rare inherited heartmuscle disease that is a cause of sudden death in young people and athletes as mentioned in this paper. Causative mutations in genes encoding desmosomal proteins have been identified and the disease is nowadays regarded as a genetically determined myocardial dystrophy.
882 citations
TL;DR: The detection of RyR2 mutations causing ARVD2 opens the way to pre-symptomatic detection of carriers of the disease in childhood, thus enabling early monitoring and treatment.
Abstract: Arrhythmogenic right ventricular dysplasia type 2 (ARVD2, OMIM 600996) is an autosomal dominant cardiomyopathy, characterized by partial degeneration of the myocardium of the right ventricle, electrical instability and sudden death. The disease locus was mapped to chromosome 1q42--q43. We report here on the physical mapping of the critical ARVD2 region, exclusion of two candidate genes (actinin 2 and nidogen), elucidation of the genomic structure of the cardiac ryanodine receptor gene (RYR2) and identification of RYR2 mutations in four independent families. In myocardial cells, the RyR2 protein, activated by Ca(2+), induces the release of calcium from the sarcoplasmic reticulum into the cytosol. RyR2 is the cardiac counterpart of RyR1, the skeletal muscle ryanodine receptor, involved in malignant hyperthermia (MH) susceptibility and in central core disease (CCD). The RyR2 mutations detected in the present study occurred in two highly conserved regions, strictly corresponding to those where mutations causing MH or CCD are clustered in the RYR1 gene. The detection of RyR2 mutations causing ARVD2, reported in this paper, opens the way to pre-symptomatic detection of carriers of the disease in childhood, thus enabling early monitoring and treatment.
870 citations
TL;DR: In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations, and the identified heterozygous mutations inPKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome.
Abstract: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations.
845 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2021 | 10 |
| 2020 | 2 |
| 2019 | 3 |
| 2018 | 5 |
| 2017 | 13 |
| 2016 | 4 |