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| Status |
Public on Mar 10, 2012 |
| Title |
Microarray analysis of Epidermolysis bullosa simplex-mottled pigmentation |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
The goal of this study is to characterize the expression profile of Epidermolysis bullosa simplex-mottled pigmentation (EBS-MP) patient compared with normal subjects using genomic expression analyses. Microarray analyses were performed with RNA isolated from skin biopsies. Robust multiarray analysis (RMA) normalization and Smyth’s moderated t test were used to select differentially expressed genes. Expression profiling comparisons show that 52 genes are differentially expressed in EBS-MP patients compared to control subjects. Difference of expression for three genes (TYR, CCL22 , and ACVR1C ) was validated using real-time reverse transcription–polymerase chain reaction. Twelve genes were related to lipid biosynthesis process, two to keratinisation and skin pigmentation, Nineteen to cell growth and apoptosis, five to immune response and fourteen to predicted or less known function cluster. To our knowledge, the distinctive pattern of gene expression that characterizes EBS-MP versus healthy skin tissue has never been reported.
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| Overall design |
RNA used for the microarrays analysis was isolated from superficial 2mm punch biopsies composed of mainly epidermis with minimal dermis amounts of normal-appearing skin of one EBS-MP patient and seven healthy volunteers.
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| Contributor(s) |
Bchetnia M, Lacroix J, Farez T, Leclerc G, Dupérée A, Powell J, McCuaig C, Morin C, Bouyacoub Y, Legendre-Guillemin V, Laprise C |
| Citation missing |
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| Submission date |
Mar 09, 2012 |
| Last update date |
Jul 26, 2018 |
| Contact name |
Catherine Laprise |
| Organization name |
Université du Québec à Chicoutimi
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| Street address |
555 Boul. Université
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| City |
Chicoutimi |
| State/province |
Qc |
| ZIP/Postal code |
G7H 2B1 |
| Country |
Canada |
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| Platforms (1) |
| GPL6244 |
[HuGene-1_0-st] Affymetrix Human Gene 1.0 ST Array [transcript (gene) version] |
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| Samples (8)
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| Relations |
| BioProject |
PRJNA153203 |
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