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GenomicsRetinal Dystrophy analysis
Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over 270 genes have been associated with IRD which makes genetic diagnosis very difficult. The recent advent of next genera...
EGAS00001005369 | EGA
ProteomicsRetinal pigment epithelium extracellular vesicles are potent inducers of age-related macular degeneration disease phenotype in the outer retina
Age-related macular degeneration (AMD) is a leading cause of blindness. Vision loss is caused by the loss of the retinal pigment epithelium (RPE) and photoreceptors and/or retinal and choroidal angiogenesis. Here we use AMD patient specific RPE cells with the Y402H high-risk polymorphism in the comp...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2022-01-21 | MSV000088713 | MassIVE
ProteomicsThe ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina
BRI23, composed of the 23 last amino acids of the integral transmembrane protein 2B (ITM2B) C-terminus, is associated with several neurodegenerative diseases, including retinal dystrophy (RD) and familial dementia. Its role in the retina remains poorly understood. This study provides a comprehensive...
ORGANISM(S): Homo sapiens (Human) 
2025-07-25 | PXD060682 | Pride
Bri23 Retina Retinal dystrophy Protein interactions Itm2b 
TranscriptomicsExpression profiling of the retinal pigment epithelium in zebrafish smarca4 mutant
Purpose: The purpose of this study was to develop a framework for analyzing RPE expression profiles from zebrafish eye mutants. Methods: The fish model we used was smarca4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4), a retinal dystrophic muta...
ORGANISM(S): Danio rerio 
2014-01-03 | E-GEOD-50241 | biostudies-arrayexpress
ProteomicsLoss of function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy
Over 500 genes have been linked to various forms of inherited retinal diseases (IRDs), a class of Mendelian conditions affecting the survival and function of rod and cone photoreceptors and leading in most instances to progressive visual loss. Yet, some patients still lack a clear genetic diagnosis,...
ORGANISM(S): Bos Taurus (ncbitaxon:9913) 
2026-01-28 | MSV000100624 | MassIVE
TranscriptomicsTranscriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
To identify disease-specific transcriptional programs in retinal pigment epithelium (RPE) cells, fibroblasts from 43 patients with geographic atrophy (GA) were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into RPE and compared to those from 36 healthy individu...
ORGANISM(S): Homo sapiens 
2022-06-20 | E-MTAB-11642 | biostudies-arrayexpress
ProteomicsHBS1L-deficient retinal proteomics analysis revealing critical role of ribosomal rescue factor in the photoreceptor cell development
Inherited retinal diseases (IRDs) encompass a genetically diverse group of conditions in which mutations in genes critical to retinal function lead to progressive loss of photoreceptor cells and subsequent visual impairment. A handful of ribosome-associated genes have been implicated in retinal diso...
ORGANISM(S): Mus musculus (Mouse) 
2024-07-25 | PXD045660 | Pride
Hbs1l Retinal degeneration Ribosomal rescue 
TranscriptomicsGPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment: small non-coding RNA-seq data
We conducted a study involving 12 individuals with retinal dystrophy, neurological impairment and skeletal abnormalities placing special focus on GPATCH11, a lesser-known G-patch domain-containing protein regulator of RNA metabolism. To elucidate its role, we employed fibroblasts from unaffected ind...
ORGANISM(S): Homo sapiens 
2025-01-01 | E-MTAB-14501 | biostudies-arrayexpress
OtherProteins involved in focal adhesion signaling pathways are differentially regulated in experimental branch retinal vein occlusion.
Data from ProteomeXchange, PXD ID: PXD001800. File: 6H_02.mzml. Published as part of Exp Eye Res. 2015 Jun 15;138:87-95 . From the Abstract: {{i}} Branch retinal vein occlusion (BRVO) is a common retinal vascular disease, but global protein changes following the condition remain largely unelucidate...
ORGANISM(S): Pig 
GPM32320017441 | GPMDB
Resource Reanalysis 
TranscriptomicsTranscription profiling of mice mutant for prCAD vs BALBC after dark adaption or retinal damage to investigate the genomic response to retinal disease and injury.
This SuperSeries is composed of the following subset Series:; GSE10528: The retinal transcriptional response to light damage; GSE10535: Retinal transcripts level alteration in the prCAD -/- mouse, a model for retinal degeneration Experiment Overall Design: Refer to individual Series
ORGANISM(S): Mus musculus 
2008-04-07 | E-GEOD-10577 | biostudies-arrayexpress
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