Omics · study · 2026
Neural Crest Cell Signatures Drive TSC and LAM Tumorigenesis
Listed in NCBI GEO
This study was performed to test the hypothesis that neural crest cells (NCCs) are causative cells for multi-systemic neoplasms occurring in Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) disorders.
Description
The hypothesis stemmed from the mesenchymal phenotypes of TSC and LAM neoplasms and their occurrence in patients at known ontogenetic destinations for maturing neural crest cells. We determined differential gene expression between single cell populations in wildtype mice renal cortical tissues versus renal cystadenomas of the tuberous sclerosis mice model by RNA sequencing, and validated our findings by immunohistochemistry, RT-qPCR, western blots, and tumorigenicity assays.
Based on our results, we pioneer the characterization of cranial NCC-induced tumorigenesis in TSC and LAM and identify the crucial role of novel neurocristopathic markers: secreted phosphoprotein (SPP1) and cytokeratin 18 (Krt18) in disease pathogenesis. Genetic inhibition of Spp1 yields an anti-tumorigenic phenotypes in NCCs.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE291nnn/GSE291150 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE291150 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1232095 ncbi.nlm.nih.gov/bioproject/PRJNA1232095 ↗
project · from NCBI GEO
- PubMed 42241577 pubmed.ncbi.nlm.nih.gov/42241577 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Mus musculus
- From keywords
- Life Sciences
- Inferred from text
- Disease 75% · RNA sequencing 75% · Sequencing 75%
Provenance · 1 source records, 10 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE291150 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[modality].local:modality:rna-seq | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:sequencing | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[organism].NCBITaxon:10090 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |