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VEGFA Stop-gained Variant Deteriorates Cardiac Remodeling in Myocardial Infarction [RNA-seq]

GSE282766 Mus musculus (mouse) RNA-seq (gene expression) 43 samples Submitted 2025/11/23 Platform GPL24247
At a glance

RNA-seq (gene expression) · mouse · 43 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Mus musculus (mouse)
Samples
43 samples: 14 conditions, mostly in triplicateGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
VEGFA Stop-Gained Variant Deteriorates Cardiac Remodeling in Myocardial InfarctionCirculation. Genomic and precision medicine · 2025
Summary (written by the submitters)
A sustained dosage of Vascular Endothelial Growth Factor A (VEGFA) is crucial for angiogenesis in both homeostasis and cardiovascular diseases. CUG-initiated alternative translation is a conserved mechanism for producing mature VEGFA. Genetic surveys have identified stop-gained variants predicted to prematurely terminate CUG-initiated translation without affecting ATG-initiated translation.
Read the full summary ↓
However, the impacts of these variants on the vasculature in steady-state and disease conditions remain unknown. Here, we identified that homozygous mice carrying the stop-gained variant were viable. VEGFA dosage reduced to 70% in the Q150X homeostatic heart, with no significant alteration in cardiac function or vasculature. In the MI model, VEGFA dosage in Q150X was reduced to about 40% within the first-week post-infarction, leading to functional deterioration in the post-MI hearts. Significant changes in cellular composition were observed three days post-MI. In particular, endothelial cells in Q150X diverged into a state that showed higher level of hypoxia stress, an elevated inflammatory response, and increased extracellular matrix secretion. Additionally, we observed an increase of Nppb+ stressed cardiomyocytes in both 3 days post-MI and homeostasis. Finally, pro-inflammatory macrophages, neutrophils, and Cd8+T cells were enriched in the ischemic zone of Q150X hearts. CUG-initiated translation contributes significantly to the production of mature VEGFA in ischemic hearts. VEGFA dosage is critical in determining the cellular microenvironment during ischemic injury.
Published in
VEGFA Stop-Gained Variant Deteriorates Cardiac Remodeling in Myocardial Infarction
Chen Z, Zhu D, Lai KS et al. · Circulation. Genomic and precision medicine 2025 · PMID 40677232 · doi:10.1161/CIRCGEN.124.004879
This dataset
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE282766_RAW.tar (it can run to tens of gigabytes).

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1190377 and SRA study SRP547396. Searching any of these in the dataset finder brings you back here.

Study design
14 conditions, mostly in triplicate
RNAseq_7dpMI_wt ×4 RNAseq_7dpMI_ho ×4 RNAseq_30dpMI_ho ×4 RNAseq_homeo_wt ×3 RNAseq_homeo_ho ×3 RNAseq_30dpMI_wt ×3 RNAseq_homeo_ec_wt ×3 RNAseq_homeo_ec_ho ×3 +6 more

Supports a between-group comparison across 43 samples.

How we read this: 14 replicated groups read from 43 sample titles; they account for 43 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study

+ 3 more — browse all 43 samples with per-sample file links →

Datasets on a similar topic

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Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.