Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
By N. Tiso, D. Stephan, A. Nava, A. Bagattin, J. Devaney, F. Stanchi, G. Larderet, Bhoomi Brahmbhatt, K. Brown, B. Bauce and 5 more. Human Molecular Genetics, 2001
828 citations recorded by the source corpus.
Subfields: Cardiology and Cardiovascular Medicine, Orthopedics and Sports Medicine
View Paper: https://www.semanticscholar.org/paper/1ae8d0a24c55597675b2018bd930fa80215ea981
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In Cardiology and Cardiovascular Medicine
Citations in the corpus
- Ryanodine receptors: structure, expression, molecular details, and function in calcium release. (2010, background): “Studies in ARVD2 suggest that Ca2þ leakage from myocardial SR via dysfunctional RyR2 is associated with development of ventricular arrhythmias (Tiso et al. 2001).”
- Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy (2007, background): “For example, arrhythmogenic right ventricular cardiomyopathy is associated with mutations of RYR2 encoding the cardiac ryanodine receptor (Tiso et al. 2001).”
- Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. (2002, background): “Among them, only the gene involved in ARVD2 has been identified to date (Tiso et al. 2001).”