GEO series

Steroid Hormone Dependent Pathogenesis in Vascular Ehlers-Danlos Syndrome

GSE288058 Mus musculus (mouse) Single-nucleus RNA-seq 18 samples Submitted 2026/03/17 Platform GPL24247

At a glance

Single-nucleus RNA-seq · mouse · 18 samples

What it is: Single-nucleus RNA-seqGene activity measured in individual nuclei (used when whole cells are hard to isolate, for example from frozen tissue). Read from the summary: GEO's own type field only says 'expression profiling by sequencing', so confirm it in the paper.
Organism: Mus musculus (mouse)
Samples: 18 samples: 6 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.

Summary (written by the submitters)

Vascular Ehlers-Danlos Syndrome (VEDS) is a genetic connective tissue disorder caused by heterozygous mutations in the COL3A1 gene encoding type III collagen which result in spontaneous rupture of the arteries, intestines, and gravid uterus. Aortic ruptures occur primarily in the descending thoracic aorta. Male VEDS patients experience a higher rate of catastrophic vascular events (dissections or ruptures) during puberty compared to females suggesting a role for androgens.

Read the full summary ↓

Our Col3a1G938D/+ mouse model recapitulates the sexually dimorphic phenotype of spontaneous death due to aortic rupture in puberty. Our work with VEDS mice subjected to androgen receptor inhibition, through the use of a conditional allele for the androgen receptor (AR) to generate global Ar null mice or through the use of pharmacologic AR antagonism with bicalutamide, discovered that androgens drive sexual dimorphic survival. We also found a role for mineralocorticoid receptor signaling with the use of spironolactone, a dual AR and MR antagonist, and finerenone, a specific MR antagonist. Therefore, we employed single nucleus-RNAseq of the descending thoracic aorta to identify the molecular mechanism driving AR, MR, and dual AR/MR protection in VEDS male mice. We discovered AR or MR antagonism normalized expression of dysregulated transcripts in both VEDS endothelial cells (ECs) and vascular smooth muscle cells (VSMCs). In ECs, components of cell junctions and modulators of cell junction stability were dysregulated while transcripts encoding a contractile VSMC phenotype, integrin signaling, and focal adhesions were modulated in VSMCs.

This dataset

Open GSE288058 in finder → Find more mouse RNA-seq datasets →

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.

Series matrix ↓

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 GSE288058_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓

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.

Raw reads on ENA ↗

What the files usually look like: Single-cell studies usually ship their counts as 10x files (matrix.mtx, barcodes.tsv, features.tsv), an .h5 file, or an .rds / .h5ad object that Seurat or Scanpy can open. Look for those among the supplementary files.

Also filed as BioProject PRJNA1215960 and SRA study SRP560001. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗

Study design

6 conditions, mostly in triplicate

Wild type CTL, ×3 VEDS CTL, ×3 VEDS Bical, ×3 VEDS Spiro, ×3 VEDS Fine, ×3 VEDS Fludro, ×3

Supports a between-group comparison across 18 samples.

How we read this: 6 replicated groups read from 18 sample titles; they account for 18 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

GSM8758352 Wild type CTL, rep1 Wild type CTL,
GSM8758353 Wild type CTL, rep2 Wild type CTL,
GSM8758354 Wild type CTL, rep3 Wild type CTL,
GSM8758355 VEDS CTL, rep1 VEDS CTL,
GSM8758356 VEDS CTL, rep2 VEDS CTL,
GSM8758357 VEDS CTL, rep3 VEDS CTL,
GSM8758358 VEDS Bical, rep1 VEDS Bical,
GSM8758359 VEDS Bical, rep2 VEDS Bical,
GSM8758360 VEDS Bical, rep3 VEDS Bical,
GSM8758361 VEDS Spiro, rep1 VEDS Spiro,
GSM8758362 VEDS Spiro, rep2 VEDS Spiro,
GSM8758363 VEDS Spiro, rep3 VEDS Spiro,
GSM8758364 VEDS Fine, rep1 VEDS Fine,
GSM8758365 VEDS Fine, rep2 VEDS Fine,
GSM8758366 VEDS Fine, rep3 VEDS Fine,
GSM8758367 VEDS Fludro, rep1 VEDS Fludro,
GSM8758368 VEDS Fludro, rep2 VEDS Fludro,
GSM8758369 VEDS Fludro, rep3 VEDS Fludro,

Datasets on a similar topic

GSE318815 Differential sex-dependent responses of circulating steroid hormones and cortical gene expression in a preclinical traumatic brain injury model 88 samples shares dependent, steroid, hormone
GSE326055 Single-cell RNA sequencing reveals blood contact-dependent functional specialization of vascular-associated immune cells in a MCAO model 4 samples shares dependent, vascular
GSE234065 Unexpected nuclear hormone receptor and chromatin dynamics regulate estrous cycle dependent gene expression 32 samples shares dependent, hormone
GSE273901 Protective Role of 3-Mercaptopyruvate Sulfurtransferase (MPST) in the Development of Metabolic Syndrome and Vascular Inflammation 11 samples shares vascular
GSE98816 Single cell RNA-seq of mouse brain vascular transcriptomes 3186 samples shares vascular
GSE311449 Single cell RNA-seq of mouse brain vascular cells with Smart-seq2 method 391 samples shares vascular
GSE255004 Sensory Flicker Stimulation of 5xFAD Mice Activates Immune Pathways in a Frequency and Time Dependent Manner 176 samples shares dependent
GSE330865 Multiorgan transcriptomics and circulating extracellular vesicle profiling reveal age-dependent systemic vulnerability to isoflurane anesthesia and surgery 120 samples shares dependent

Search all mouse RNA-seq datasets in GEO →

Share this dataset

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.