GEO DataSets

(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

(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

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(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

(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

(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

(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

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

(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:

GPL16791 GPL21290

13 Samples

Download data: XLS