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Links from GEO DataSets

Items: 9

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.
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
8.

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
9.

Posterior Amorphous Corneal Dystrophy Is Associated with a Deletion of Small Leucine-rich Proteoglycans on Chromosome 12

(Submitter supplied) Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. After next-generation sequencing of the family in which linkage analysis identified a chromosomal locus for PACD on 12q21.33 failed to yield a pathogenic mutation, array-based copy number analysis and qPCR detected a deletion on 12q21.33 containing four genes encoding small leucine-rich proteoglycans (SLRPs): KERA, LUM, DCN, and EPYC. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array; Genome variation profiling by SNP array
Platform:
GPL16131
13 Samples
Download data: CEL, CYCHP
Series
Accession:
GSE50573
ID:
200050573
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