Title |
Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways
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Published in |
BMC Research Notes, December 2015
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DOI | 10.1186/s13104-015-1783-7 |
Pubmed ID | |
Authors |
Julia Herzog, Raphaela Rid, Martin Wagner, Harald Hundsberger, Andreas Eger, Johann Bauer, Kamil Önder |
Abstract |
To be able to develop effective therapeutics for epidermolysis bullosa simplex (EBS), it is necessary to elucidate the molecular pathomechanisms that give rise to the disease's characteristic severe skin-blistering phenotype. Starting with a whole-transcriptome microarray analysis of an EBS Dowling-Meara model cell line (KEB7), we identified 207 genes showing differential expression relative to control keratinocytes. A complementary qRT-PCR study of 156 candidates confirmed 76.58 % of the selected genes to be significantly up-regulated or down-regulated (p-value <0.05) within biological replicates. Our hit list contains previously identified genes involved in epithelial cell proliferation, cell-substrate adhesion, and responses to diverse biological stimuli. In addition, we identified novel candidate genes and potential affected pathways not previously considered as relevant to EBS pathology. Our results broaden our understanding of the molecular processes dysregulated in EBS. |
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Other | 2 | 12% |
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