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Links from GEO DataSets

Items: 16

1.

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
2.
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
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.

Transcriptomic and gene ontology profiling of the human corneal cell types

(Submitter supplied) Purpose: To identify distinct gene expression and functional profiles for the three main cell types (epithelial, keratocyte and endothelial) of the human cornea. Methods: RNA-sequencing was performed using total RNA isolated from ex vivo corneal epithelial cells (evCEpC), keratocytes (evK) and endothelial cells (evCEnC) obtained from 3 donor corneas obtained from a commercial eye bank. Transcriptomic analysis was performed using Kallisto (alignment (hg38) and quantification) and Sleuth (differential gene expression(DGE)), with transcript abundances calculated as transcripts per kilobase million (TPM). more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL16791
9 Samples
Download data: TXT
Series
Accession:
GSE121922
ID:
200121922
5.

Transcriptomic analysis of cultured corneal endothelial cells as a validation for their use in cell-replacement therapy

(Submitter supplied) The corneal endothelium plays a primary role in maintaining corneal homeostasis and clarity, and must be surgically replaced with allogenic donor corneal endothelium in the event of visually significant dysfunction. However, a worldwide shortage of donor corneal tissue has led to a search for alternative sources of transplantable tissue. Cultured human corneal endothelial cells (HCEnC) have been shown to restore corneal clarity in experimental models of corneal endothelial dysfunction in animal models, but characterization of cultured HCEnC remains incomplete. more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL16791
15 Samples
Download data: TXT
Series
Accession:
GSE65991
ID:
200065991
6.

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
7.

Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy

(Submitter supplied) To investigate the molecular basis of posterior polymorphous corneal dystrophy (PPCD) by examining the transcriptome in affected individuals and the effect of decreased ZEB1 expression on corneal endothelial gene expression.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platforms:
GPL21290 GPL16791
13 Samples
Download data: XLS
Series
Accession:
GSE90489
ID:
200090489
8.

Alterations in GRHL2-OVOL2-ZEB1 Axis and Aberrant Activation of Wnt Signaling Lead to Altered Gene Transcription in Posterior Polymorphous Corneal Dystrophy

(Submitter supplied) To investigate the molecular basis of posterior polymorphous corneal dystrophy (PPCD) by examining the transcriptome in an affected individuals with an OVOL2 promoter mutation c.307T>C (PPCD1).
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL21290
2 Samples
Download data: XLS
Series
Accession:
GSE126487
ID:
200126487
9.

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
10.

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

(Submitter supplied) Purpose: To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1 coding region mutations. Methods: The promoter and/or coding regions of OVOL2 were screened in the PPCD family in which linkage analysis established the PPCD1 locus and in 26 PPCD probands who did not harbor a ZEB1 mutation. Copy number variation (CNV) analysis in the PPCD1 and PPCD3 intervals was performed on DNA samples from eight probands using aCGH. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL22253
8 Samples
Download data: TXT
Series
Accession:
GSE84940
ID:
200084940
11.

Agilent-079141 PPCD1-3_loci G4126A 8X60 array (Feature number version)

(Submitter supplied) Agilent-079141 PPCD1-3_loci G4126A Array design is based on genome build hg19/GRCh37. Arrays of this design have barcodes that begin with 16079141 or 2579141 Orientation: Features are numbered numbered Left-to-Right, Top-to-Bottom as scanned by an Agilent scanner (barcode on the left, DNA on the back surface, scanned through the glass), matching the FeatureNum output from Agilent's Feature Extraction software. more...
Organism:
Homo sapiens
1 Related Platform
Download data: TXT
Platform
Accession:
GPL22252
ID:
100022252
12.

Identification of Novel Molecular Markers through Transcriptomic Analysis in Human Fetal and Adult Corneal Endothelial Cells

(Submitter supplied) Corneal endothelium is composed of a monolayer of corneal endothelial cells (CECs) in the inner layer of cornea, which is essential for maintaining corneal transparency. In order to better characterize CECs in different developmental stages, we profiled mRNA transcriptomes in human fetal and adult corneal endothelium with the goal to identify novel molecular markers in these cells. By comparing CECs with 12 other types of tissues, we identified 245 and 284 signature genes that are highly expressed in fetal and adult CECs, respectively. more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL11154
5 Samples
Download data: TXT
Series
Accession:
GSE41616
ID:
200041616
13.

Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus

(Submitter supplied) Purpose: To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1). Methods: Next-generation sequencing was performed on DNA samples from 4 affected and 4 unaffected members of a previously reported family with PPCD1 linked to chromosome 20 between D20S182 and D20S195. Custom capture probes were utilized for targeted region capture of the linked interval. Single nucleotide variants (SNVs) and insertions/deletions (indels) were identified using two bioinformatics pipelines and two annotation databases. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL20879
8 Samples
Download data: TXT
Series
Accession:
GSE72617
ID:
200072617
14.

Agilent-073748 PPCD1 CNV 17.3-34.0 (Feature Number version)

(Submitter supplied) Array design is based on genome build hg19/GRCh37. G4126A Arrays of this design have barcodes that begin with 16073748 or 2573748. Orientation: Features are numbered numbered Left-to-Right, Top-to-Bottom as scanned by an Agilent scanner (barcode on the left, DNA on the back surface, scanned through the glass), matching the FeatureNum output from Agilent's Feature Extraction software. The ID column represents the Agilent Feature Extraction feature number. more...
Organism:
Homo sapiens
1 Related Platform
Download data
Platform
Accession:
GPL20878
ID:
100020878
15.

Transcriptome of Human Primary Corneal Endothelial Cells with SLC4A11 deficiency

(Submitter supplied) Mutations in the solute-linked carrier family 4 member 11 (SLC4A11) gene are associated with several corneal endothelial dystrophies, in all of which visually significant cornea edema may require corneal transplantation. To elucidate the pathogenesis of SLC4A11 associated corneal endothelial dystrophies, we analyzed the transcriptome of SLC4A11 knock-down primary human corneal endothelium (SLC4A11 KD pHCEnC) and scrambled RNA treated pHCEnC as controls.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL20301
6 Samples
Download data: TXT
Series
Accession:
GSE142636
ID:
200142636
16.

Transcriptome of Immortalized Mouse Corneal Endothelial Cells with SLC4A11 deficiency

(Submitter supplied) Mutations in the solute-linked carrier family 4 member 11 (SLC4A11) gene are associated with several corneal endothelial dystrophies, in all of which visually significant cornea edema may require corneal transplantation. To elucidate the pathogenesis of SLC4A11 associated corneal endothelial dystrophies, we analyzed the transcriptome of immortalized mouse corneal endothelial cells (Slc4a11-/- MCEnC) and Slc4a11+/+ MCEnC as controls.
Organism:
Mus musculus
Type:
Expression profiling by high throughput sequencing
Platform:
GPL21493
12 Samples
Download data: TXT
Series
Accession:
GSE142635
ID:
200142635
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