Omics · study · 2026
Impaired Endothelial Cell Type Specification and Vascular Function in Cockayne Syndrome B
Listed in NCBI GEO
Cockayne Syndrome B (CSB) is a rare genetic disorder caused by mutations in ERCC6, which encodes the DNA excision repair protein Cockayne Syndrome B. Despite numerous multisystem pathologies documented in patients with CSB, little is known about the effects of this disease on vasculature at the cellular level.
Description
Using patient-derived stem cells, we investigated how CSB-mediated abnormalities in vascular endothelial cell (vEC) structure negatively impacts function.
Compared to wild-type controls, CSB-derived vECs exhibited abnormal morphology and impaired cell-type specification reminiscent of endothelial to mesenchymal transition (EndoMT). CSB-derived vECs also showed reduced proliferated capacity and priming of apoptosis, which was exacerbated upon UV-induced DNA damage. CSB-derived vECs spontaneously formed fewer and thicker vascular tubes and their monolayers exhibited compromised barrier integrity with high permeability.
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Transcriptomic analysis revealed mechanosensory dysfunction, marked by premature entry into quiescence, dysregulated angiogenic signaling, and maladaptive vasoregulation, which may explain why when under shear stress, CSB vECs exhibited enhanced (and not reduced) adhesion to laminin and fibronectin. Together, these results elucidate the vascular endothelial cell abnormalities that may contribute to vascular dysfunction and pathophysiology of Cockayne Syndrome B.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE307nnn/GSE307216 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE307216 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1314778 ncbi.nlm.nih.gov/bioproject/PRJNA1314778 ↗
project · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- Disease 75%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE307216 | 15 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[organism].NCBITaxon:9606 | 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 |