ArticleAmerican journal of human genetics2002
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00024505 (Multidisciplinary Study of Right Ventricular Dysplasia), which is not on this map. Cited by 212 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Multidisciplinary Study of Right Ventricular Dysplasia
Who cites it
212 citing papers in PubMed, 2 syntheses or guidelines pooled it, 660 citations in OpenAlex.
- Arrhythmogenic cardiomyopathy diagnosis and management: a systematic review of clinical practice guidelines and recommendations with insights for future research.European heart journal. Quality of care & clinical outcomes · 2025Pooled it
- Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.Nature communications · 2020Pooled it
- Arrhythmogenic right ventricular cardiomyopathy.European heart journal · 2026Review
- Myocarditis Revealing a Pathogenic Desmoplakin (DSP) Variant: Implications for Genetic Testing Pathways.Cureus · 2026Article
- Homozygous NonsenseJournal of clinical medicine · 2026Article
- CCDC120 phase separation contributes to desmosomal integrity and cardiac function.Nature communications · 2026Article
- Chemotherapy as Second Hit in Desmoplakin Cardiomyopathy.JACC. Case reports · 2026Article
- Walras modulates sex-dependent endoplasmic reticulum stress in cardiomyopathy.Frontiers in physiology · 2026Article
- Cardiomyopathies: Temporal Review and Genetic Determination.Biomedicines · 2025Article
- Article
- A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy.JACC. Case reports · 2025Article
- Cardiac sympathetic neurons are additional cells affected in genetically determined arrhythmogenic cardiomyopathy.The Journal of physiology · 2025Article
- Review
- Clinical features and outcomes in carriers of pathogenic desmoplakin variants.European heart journal · 2025Article
- A case of arrhythmic cardiomyopathy caused by rare multiple gene mutations.Frontiers in cardiovascular medicine · 2025Article
- Describing and Mapping the Research Trend of Scientific Publications on Arrhythmogenic Right Ventricular Cardiomyopathy Across Four Decades: A Bibliometric Analysis.Clinical cardiology · 2024Article
- Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024Review
- Three-Dimensional iPSC-Based In Vitro Cardiac Models for Biomedical and Pharmaceutical Research Applications.International journal of molecular sciences · 2024Review
- A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.European heart journal · 2024Article
- In Vivo Approaches to Understand Arrhythmogenic Cardiomyopathy: Perspectives on Animal Models.Cells · 2024Review
152 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVD/C) is a genetically heterogeneous disease characterized by progressive degeneration of the right ventricular myocardium and increased risk of sudden death. Here, we report on a genome scan in one Italian family in which the disease appeared unlinked to any of the six different ARVD loci reported so far; we identify a mutation (S299R) in exon 7 of desmoplakin (DSP), which modifies a putative phosphorylation site in the N-terminal domain binding plakoglobin. It is interesting that a nonsense DSP mutation was reported elsewhere in the literature, inherited as a recessive trait and causing a biventricular dilative cardiomyopathy associated with palmoplantar keratoderma and woolly hairs. Therefore, different DSP mutations might produce different clinical phenotypes, with different modes of inheritance.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.