ArticleCirculation. Heart failure2020
Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart.
Article in Circulation. Heart failure, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- A Meta-Analysis Approach to Gene Regulatory Network Inference Identifies Key Regulators of Cardiovascular Diseases.International journal of molecular sciences · 2024Pooled it
- The dark genome in cardiovascular medicine.European heart journal · 2026Review
- Context-aware sequence-to-function model of human gene regulation.Nature communications · 2026Article
- Transcript diversity reflects deleterious RNA processing errors shaped by population size in metazoans.PLoS biology · 2026Article
- SnakeAltPromoter Facilitates Differential Alternative Promoter Analysis.Computational and structural biotechnology journal · 2026Article
- The patterns of alternative TSS usage explain the highly heterogeneous landscape of 5'UTR lengths in eukaryotes.NAR genomics and bioinformatics · 2025Article
- G-quadruplex structures as modulators of alternative promoter usage.NAR genomics and bioinformatics · 2025Article
- Gene therapy for atrial fibrillation.Journal of molecular and cellular cardiology · 2024Review
- Human induced pluripotent stem cell-derived closed-loop cardiac tissue for drug assessment.iScience · 2024Article
- Anthracyclines induce cardiotoxicity through a shared gene expression response signature.PLoS genetics · 2024Article
- Alternative Transcripts Diversify Genome Function for Phenome Relevance to Health and Diseases.Genes · 2023Review
- Alternative Transcription Start Site Usage and Functional Implications in Pathogenic Fungi.Journal of fungi (Basel, Switzerland) · 2022Review
- Rewiring of 3D Chromatin Topology Orchestrates Transcriptional Reprogramming and the Development of Human Dilated Cardiomyopathy.Circulation · 2022Article
- Genetic effect of an InDel in the promoter region of the NUDT15 and its effect on myoblast proliferation in chickens.BMC genomics · 2022Article
- Genomic enhancers in cardiac development and disease.Nature reviews. Cardiology · 2022Review
- Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression.Circulation · 2021Article
- Studying Heart Failure Through the Lens of Gene Regulation.Circulation. Heart failure · 2020Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundThe failing heart is characterized by changes in gene expression. However, the regulatory regions of the genome that drive these gene expression changes have not been well defined in human hearts.
methodsTo define genome-wide enhancer and promoter use in heart failure, cap analysis of gene expression sequencing was applied to 3 healthy and 4 failed human hearts to identify promoter and enhancer regions used in left ventricles. Healthy hearts were derived from donors unused for transplantation and failed hearts were obtained as discarded tissue after transplantation.
resultsCap analysis of gene expression sequencing identified a combined potential for ≈23 000 promoters and ≈5000 enhancers active in human left ventricles. Of these, 17 000 promoters and 1800 enhancers had additional support for their regulatory function. Comparing promoter usage between healthy and failed hearts highlighted promoter shifts which altered aminoterminal protein sequences. Enhancer usage between healthy and failed hearts identified a majority of differentially used heart failure enhancers were intronic and primarily localized within the first intron, revealing this position as a common feature associated with tissue-specific gene expression changes in the heart.
conclusionsThis data set defines the dynamic genomic regulatory landscape underlying heart failure and serves as an important resource for understanding genetic contributions to cardiac dysfunction. Additionally, regulatory changes contributing to heart failure are attractive therapeutic targets for controlling ventricular remodeling and clinical progression.
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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.