GEO series

ANTXR2 Deficiency Promotes Cellular Senescence and Chondroid Differentiation in Hyaline Fibromatosis Syndrome Fibroblasts

GSE294791 Homo sapiens (human) RNA-seq (gene expression) 15 samples Submitted 2025/04/30 Platform GPL34284

At a glance

RNA-seq (gene expression) · human · 15 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: Homo sapiens (human)
Samples: 15 samples: 5 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)

Mutations in anthrax toxin receptor 2 (ANTXR2) cause hyaline fibromatosis syndrome (HFS), a rare genetic disorder marked by subcutaneous nodules filled with amorphous hyaline extracellular material. In addition to these nodules, HFS patients exhibit gingival hypertrophy, joint contractures, osteolytic lesions, and, in severe cases, intractable diarrhea.

Read the full summary ↓

The mechanisms by which ANTXR2 regulates extracellular matrix (ECM) composition and connective tissue homeostasis remain incompletely understood. Here, we show that dermal fibroblasts from HFS patients exhibit hallmarks of cellular senescence, chondroid differentiation and abnormal ECM deposition. Additionally, HFS dermal fibroblasts are refractory to matrix metalloproteinase (MMP) 2 and 9 activation, potentially explaining phenotypic similarities between HFS and disorders caused by loss-of-function mutations in MMP genes. These findings underscore the essential role of ANTXR2 in maintaining dermal fibroblast identity and connective tissue homeostasis, laying the groundwork for novel therapeutic interventions for HFS.

This dataset

Open GSE294791 in finder → Find more human 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 GSE294791_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: 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 PRJNA1251607 and SRA study SRP579148. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗

Study design

5 conditions, mostly in triplicate

siANTXR2_a ×3 siCTRL ×3 siANTXR2_b ×3 CTRL1 ×3 HFS1 ×3

Supports a between-group comparison across 15 samples.

How we read this: 5 replicated groups read from 15 sample titles; they account for 15 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

GSM8919797 siANTXR2_a_1 siANTXR2_a
GSM8919798 siANTXR2_a_2 siANTXR2_a
GSM8919799 siANTXR2_a_3 siANTXR2_a
GSM8919800 siCTRL_1 siCTRL
GSM8919801 siCTRL_2 siCTRL
GSM8919802 siCTRL_3 siCTRL
GSM8919803 siANTXR2_b_1 siANTXR2_b
GSM8919804 siANTXR2_b_2 siANTXR2_b
GSM8919805 siANTXR2_b_3 siANTXR2_b
GSM8919806 CTRL1_1 CTRL1
GSM8919807 CTRL1_2 CTRL1
GSM8919808 CTRL1_3 CTRL1
GSM8919809 HFS1_1 HFS1
GSM8919810 HFS1_2 HFS1
GSM8919811 HFS1_3 HFS1

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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.