Omics · study · 2026
Gene expression profile of mutant mouse bearing nuclear YARS2 G186V,mitochondrial COI V421A, and double muations
Listed in NCBI GEO
Leber hereditary optic neuropathy (LHON) is a paradigm for inherited retinal disorders.
Description
Nuclear modifier Yars2 was proposed to modify the phenotypic manifestation of LHON-associated mitochondrial DNA (mtDNA) mutations. However, the mechanism underlying retinal-specific effects of LHON-linked mitochondrial-nuclear interactions remains poorly understood and there has been no effective treatment or cure for this disorder.
We use RNA-seq to investigate the retinal deficiencies caused by LHON-linked mtDNA (COI V421A) and nDNA (YARS2 G186V) mutations.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE304nnn/GSE304707 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE304707 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1302374 ncbi.nlm.nih.gov/bioproject/PRJNA1302374 ↗
project · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Mus musculus
- From keywords
- Life Sciences
- Inferred from text
- RNA sequencing 65%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE304707 | 13 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[modality].local:modality:rna-seq | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (65%) |
| 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 |