Omics · study · 2026
Elucidating the molecular mechanisms underlying CRB1-related Leber congenital amaurosis (LCA)
Listed in NCBI GEO
Patients with genetic mutations in the CRB1 gene have varied clinical features and levels of disease severity ranging from Leber congenital amaurosis (LCA), early onset retinal dystrophy (EORD) to retinitis pigmentosa (RP).
Description
The relationship between genetic mutation and clinical presentation is not well understood. Our lab have characterised two disease models of CRB1 (Owen et al 2023); zebrafish and patient grown stem cell derived early retinas.
Investigation reveals lack of the CRB1 protein prevents the retina from developing into a mature state with precise defined cell types, instead it is locked in an early stage of development with lots of cells dividing. To futher understand the underlying molecular mechanisms causing the CRB1 phenotype we have carried out transcriptome analysis of iPSC derived 3D retinal organoids at day 35.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE235nnn/GSE235778 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE235778 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA987610 ncbi.nlm.nih.gov/bioproject/PRJNA987610 ↗
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 | GSE235778 | 14 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 |