Excel · study · 2026
Role of MYOC A445V mutation on glaucomatous degeneration of human retinal ganglion cells.
Listed in NCBI GEO
Glaucoma is a group of diseases that results in the death of retinal ganglion cells (RGCs), leading to permanent blindness.
Description
Myocilin is one of the genetic factors associated with primary open angle glaucoma (POAG) with or without ocular hypertension. Using myocilin-dependent POAG patient-derived iPSC RGCs, we have shown that RGCs harboring the myocilin mutation (A445V) have dysregulated unfolded protein response with developmental and functional abnormalities, which may make them suscepetible to degeneration regardless of ocular hypertension.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE310nnn/GSE310484 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE310484 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1366416 ncbi.nlm.nih.gov/bioproject/PRJNA1366416 ↗
project · from NCBI GEO
- PubMed 41712748 pubmed.ncbi.nlm.nih.gov/41712748 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
Provenance · 1 source records, 7 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE310484 | 14 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| 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 |