ArticleMolecular genetics and metabolism reports2024
Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease.
Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Review
- Pathophysiological mechanisms of organ injury in Fabry disease: Update via multi-omics.Genes & diseases · 2026Review
- Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype.Current issues in molecular biology · 2025Review
- Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies.Journal of inherited metabolic disease · 2025Review
- Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease.Orphanet journal of rare diseases · 2025Review
- Anderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies.Diagnostics (Basel, Switzerland) · 2025Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is the most frequently occurring form of lysosomal disease in Japan, and is characterized by a wide variety of conditions. Primarily, the three major types of concerns associated with Fabry disease observed during adulthood that must be prevented are central nervous system, renal, and cardiac complications. Cardiac complications, such as cardiomyopathy, cardiac muscle fibrosis, and severe arrhythmia, are the most common mortality causes in patients with Fabry disease. To predict cardiac complications of Fabry disease, we extracted RNA from the venous blood of patients for cap analysis of gene expression (CAGE), performed likelihood ratio tests for each RNA expression dataset obtained from individuals with and without cardiac complications, and analyzed the correlation between cardiac functional factors observed using magnetic resonance imaging data extracted using artificial intelligence algorithms and RNA expression. Our findings showed that CHN1 expression was significantly higher in male Fabry disease patients with cardiac complications and that it could be associated with many cardiac functional factors.
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Registered trials
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