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.
abstract: BACKGROUND
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Our results broaden our understanding of the molecular processes dysregulated in EBS.
authors.affiliation: Division of Molecular Dermatology, Department of Dermatology, Paracelsus Private Medical University Salzburg, Salzburg, Austria. j.herzog@salk.at.
authors.forename: Julia
authors.initials: J
authors.lastname: Herzog
authors.affiliation: Division of Molecular Dermatology, Department of Dermatology, Paracelsus Private Medical University Salzburg, Salzburg, Austria. r.rid@salk.at.
authors.forename: Raphaela
authors.initials: R
authors.lastname: Rid
authors.affiliation: Division of Molecular Dermatology, Department of Dermatology, Paracelsus Private Medical University Salzburg, Salzburg, Austria. wagner.martin@sbg.at.
authors.forename: Martin
authors.initials: M
authors.lastname: Wagner
authors.affiliation: Department of Medical and Pharmaceutical Biotechnology, University of Applied Sciences, Krems, Austria. harald.hundsberger@fh-krems.ac.at.
authors.forename: Harald
authors.initials: H
authors.lastname: Hundsberger
authors.affiliation: Department of Medical and Pharmaceutical Biotechnology, University of Applied Sciences, Krems, Austria. andreas.eger@fh-krems.ac.at.
authors.forename: Andreas
authors.initials: A
authors.lastname: Eger
authors.affiliation: Division of Molecular Dermatology, Department of Dermatology, Paracelsus Private Medical University Salzburg, Salzburg, Austria. jo.bauer@salk.at.
authors.forename: Johann
authors.initials: J
authors.lastname: Bauer
authors.affiliation: Division of Molecular Dermatology, Department of Dermatology, Paracelsus Private Medical University Salzburg, Salzburg, Austria. k.oender@salk.at.
authors.forename: Kamil
authors.initials: K
authors.lastname: Önder
mesh_terms: D015153:Blotting, Western; D002460:Cell Line; D016110:Epidermolysis Bullosa Simplex / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D020869:Gene Expression Profiling / Q000379:methods*; D063990:Gene Ontology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D015603:Keratinocytes / Q000187:drug effects / Q000378:metabolism*; D058990:Molecular Targeted Therapy / Q000379:methods; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015398:Signal Transduction / Q000187:drug effects / Q000235:genetics*; D059467:Transcriptome / Q000235:genetics*