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| Status |
Public on Apr 11, 2019 |
| Title |
Alterations in GRHL2-OVOL2-ZEB1 Axis and Aberrant Activation of Wnt Signaling Lead to Altered Gene Transcription in Posterior Polymorphous Corneal Dystrophy |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
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).
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| Overall design |
Cornea endothelial tissue from a patient (P7), age 67, with PPCD were obtained when the patient underwent keratoplasty . The Descemet membrane and endothelium were placed onto a piece of filter paper and submerged in TRI Reagent (Thermo Fisher, Waltham, MA) for RNA isolation. Human cornea tissue from an age-matched donor (C7), age 63, was obtained from an commercial eye bank. Descemet’s membrane and corneal endothelium were stripped from the donor cornea using a published technique and placed into TRI Reagent for RNA isolation.
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| Contributor(s) |
Chung DD, Aldave AJ |
| Citation(s) |
31233731 |
| Submission date |
Feb 13, 2019 |
| Last update date |
Jul 12, 2019 |
| Contact name |
Anthony John Aldave |
| E-mail(s) |
aldave@jsei.ucla.edu
|
| Phone |
3108256232
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| Organization name |
University of California, Los Angeles
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| Department |
Ophthalmology
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| Lab |
Aldave Lab
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| Street address |
200 Stein Plaza, DS 3-143
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| City |
Los Angeles |
| State/province |
California |
| ZIP/Postal code |
90095 |
| Country |
USA |
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| Platforms (1) |
| GPL21290 |
Illumina HiSeq 3000 (Homo sapiens) |
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| Samples (2) |
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| Relations |
| BioProject |
PRJNA522067 |
| SRA |
SRP185780 |
