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Transcriptomic analysis of first molars in a mouse model of Loeys-Dietz Syndrome Type II harboring a G357W mutation in the Tgfbr2 gene

GSE284226 Mus musculus (mouse) RNA-seq (gene expression) 22 samples Submitted 2025/06/06 Platform GPL30172
At a glance

RNA-seq (gene expression) · mouse · 22 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
22 samples: 6 × Molar_P5_WT vs 6 × Molar_P5_Het vs 5 × Molar_P11_WT vs 5 × Molar_P11_HetGroups 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
Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type IIJournal of dental research · 2025
Summary (written by the submitters)
Loeys Dietz Syndrome (LDS) is a connective tissue disorder caused by mutations along the TGF-beta signaling pathway and characterized by severe aortic aneurysm and craniofacial anomalies. Patients with LDS Type II (LDS2), caused by mutations in the TGFBR2 gene also exhibit enamel defects. A mouse model for LDS2, harboring a G357W mutation in the Tgfbr2 gene, recapitulates the cardiovascular, craniofacial and dental phenotype of the disease.
Read the full summary ↓
This transcriptomic analysis aimed at identifying genes that are differentially regulated in first molars of Tgfbr2-G357W/+ mice at postnatal day 5 and 11. Total RNA was extracted from enamel organs from Tgfbr2-G357W/+ mice (LDSR2, KI) and Tgfbr2-+/+ wild-type littermates (WT).
Published in
Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II
Duverger O, Wang SK, Liu QN et al. · Journal of dental research 2025 · PMID 40261094 · doi:10.1177/00220345251326094
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 GSE284226_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 PRJNA1198027 and SRA study SRP551323. Searching any of these in the dataset finder brings you back here.

Study design
6 × Molar_P5_WT vs 6 × Molar_P5_Het vs 5 × Molar_P11_WT vs 5 × Molar_P11_Het

Supports a between-group comparison across 22 samples.

How we read this: 4 replicated groups read from 22 sample titles; they account for 22 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
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