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Links from GEO DataSets

Items: 11

1.

RNA Misplicing in Fuchs Endothelial Corneal Dystrophy II

(Submitter supplied) RNA-Seq splicing data from the corneal endothelia of FECD patients and controls reveal hundreds of differential alternative splicing events. These include events previously characterized in the context of myotonic dystrophy type 1 and epithelial-to-mesenchymal transition, as well as splicing changes in genes related to proposed mechanisms of FECD pathogenesis.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platforms:
GPL20301 GPL11154
28 Samples
Download data: TSV
Series
Accession:
GSE112201
ID:
200112201
2.

Analyzing Presymptomatic Tissue to Gain Insights into Late-Onset Degenerative Trinucleotide Repeat Disease

(Submitter supplied) How genetic defects trigger late-onset disease is important for understanding disease progression and therapeutic development. Fuchs’ endothelial corneal dystrophy (FECD) is an RNA-mediated disease caused by a trinucleotide CUG expansion in an intron within the TCF4 gene. The mutant intronic CUG RNA is present at 1-2 copies per cell, posing a challenge to understand how a rare RNA can cause disease. more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL18573
25 Samples
Download data: TXT
Series
Accession:
GSE142538
ID:
200142538
3.

Serial analysis of gene expression in the corneal endothelium of Fuchs' dystrophy

(Submitter supplied) PURPOSE: To compare the gene expression profiles of normal human corneal endothelium with Fuchs' corneal endothelium, by using serial analysis of gene expression (SAGE). METHODS: Three pairs of normal human corneas were obtained from eye banks. Thirteen bisected Fuchs' corneal buttons were processed at the time of corneal transplantation. The endothelia of normal and Fuchs'-affected corneas were stripped, and total RNA was isolated. more...
Organism:
Homo sapiens
Type:
Expression profiling by SAGE
Platform:
GPL4
2 Samples
Download data
Series
Accession:
GSE505
ID:
200000505
4.

Comprehensive characterization of DNA methylation changes in Fuchs Endothelial Corneal Dystrophy

(Submitter supplied) Transparency of the human cornea is necessary for vision. Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, heritable degeneration of the corneal endothelium, and a leading indication for corneal transplantation in developed countries. While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linked to only a minority of cases. more...
Organism:
Homo sapiens
Type:
Methylation profiling by genome tiling array
Platform:
GPL13534
16 Samples
Download data: IDAT, TXT
Series
Accession:
GSE94462
ID:
200094462
5.

Transcriptome Analysis of the Human Corneal Endothelium

(Submitter supplied) Defining the normal and age-dependent HCEnC transcriptome will further refine our understanding of the functional roles that the endothelium plays in the cornea and will provide a basis upon which to compare transcriptomes of normal and dystrophic endothelium for the subsequent development of gene-targeted therapies. We used microarrays to comprehensively characterize human corneal endothelial cell (HCEnC) gene expression, age-dependent differential gene expression and to identify expressed genes mapped to chromosomal loci associated with the corneal endothelial dystrophies PPCD1, FECD4 and XECD
Organism:
Homo sapiens
Type:
Expression profiling by array
Dataset:
GDS5432
Platform:
GPL11532
11 Samples
Download data: CEL
Series
Accession:
GSE58315
ID:
200058315
6.
Full record GDS5432

Age effect on corneal endothelium

Analysis of corneal endothelium from pediatric (4-11 years old) and adult (53-70 years old) donor corneas. Results provide insight into differential molecular expression between pediatric and adult corneal endothelial cells.
Organism:
Homo sapiens
Type:
Expression profiling by array, transformed count, 3 age sets
Platform:
GPL11532
Series:
GSE58315
9 Samples
Download data: CEL
7.

Identification of Circulating Fibrocytes and Dendritic Derivatives in Corneal Endothelium of Patients with Fuchs' Dystrophy

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by array; Expression profiling by RT-PCR
Platforms:
GPL6244 GPL21204 GPL21205
37 Samples
Download data: CEL
Series
Accession:
GSE75676
ID:
200075676
8.

Identification of Circulating Fibrocytes and Dendritic Derivatives in Corneal Endothelium of Patients with Fuchs' Dystrophy [RT-qPCR array CAPH10410]

(Submitter supplied) PURPOSE: Fuchs’ endothelial corneal dystrophy (FECD) is a degenerative eye disorder affecting 4% of Americans older than 40. It is the leading indication for corneal endothelial (CE) transplantation for which there is a global donor shortage. This study aimed to gain further insight into the pathophysiology of FECD and identify targets for nonsurgical therapy. METHODS: CE from patients with late-onset FECD was compared with that of normal controls using microarray expression analysis (n = 4 FECD, n = 4 normal), reverse transcriptase quantitative PCR (n = 9 FECD, n = 8 normal), and immunohistology (n = 55 FECD, n = 15 normal). more...
Organism:
Homo sapiens
Type:
Expression profiling by RT-PCR
Platform:
GPL21205
15 Samples
Download data: TXT
Series
Accession:
GSE75675
ID:
200075675
9.

Identification of Circulating Fibrocytes and Dendritic Derivatives in Corneal Endothelium of Patients with Fuchs' Dystrophy [RT-qPCR array CAPH10409]

(Submitter supplied) PURPOSE: Fuchs’ endothelial corneal dystrophy (FECD) is a degenerative eye disorder affecting 4% of Americans older than 40. It is the leading indication for corneal endothelial (CE) transplantation for which there is a global donor shortage. This study aimed to gain further insight into the pathophysiology of FECD and identify targets for nonsurgical therapy. METHODS: CE from patients with late-onset FECD was compared with that of normal controls using microarray expression analysis (n = 4 FECD, n = 4 normal), reverse transcriptase quantitative PCR (n = 9 FECD, n = 8 normal), and immunohistology (n = 55 FECD, n = 15 normal). more...
Organism:
Homo sapiens
Type:
Expression profiling by RT-PCR
Platform:
GPL21204
14 Samples
Download data: TXT
Series
Accession:
GSE75674
ID:
200075674
10.

Identification of Circulating Fibrocytes and Dendritic Derivatives in Corneal Endothelium of Patients with Fuchs' Dystrophy [microarray expression analysis]

(Submitter supplied) PURPOSE: Fuchs’ endothelial corneal dystrophy (FECD) is a degenerative eye disorder affecting 4% of Americans older than 40. It is the leading indication for corneal endothelial (CE) transplantation for which there is a global donor shortage. This study aimed to gain further insight into the pathophysiology of FECD and identify targets for nonsurgical therapy. METHODS: CE from patients with late-onset FECD was compared with that of normal controls using microarray expression analysis (n = 4 FECD, n = 4 normal), reverse transcriptase quantitative PCR (n = 9 FECD, n = 8 normal), and immunohistology (n = 55 FECD, n = 15 normal). more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL6244
8 Samples
Download data: CEL
Series
Accession:
GSE74123
ID:
200074123
11.

Intron retention induced by microsatellite expansions as a disease biomarker.

(Submitter supplied) Microsatellite expansions often occur in non-coding regions of the genome. In this study, we test their effect on host transcript RNA processing.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Other
Platforms:
GPL18573 GPL10999
18 Samples
Download data: XLSX
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