E-MTAB-1641 - Transcription profiling by array of two HPV16 E6/E7 immortalized skin keratinocyte cell lines, NEB1 and EBDM1, derived from a healthy individual and a 5-year-old patient suffering from Dowling-Meara type epidermolysis bullosa simplex (EBS-DM), respectively
Released on 23 July 2013, last updated on 3 May 2014
Dowling-Meara type epidermolysis bullosa simplex (EBS-DM) is a severe blistering disease, caused by dominant mutations in either the keratin-5 (K5) or keratin-14 (K14) gene. K5 and K14 are the major components of the intermediate filament (IF) network in basal keratinocytes. Due to the dominant nature of EBS-DM, misfolded K5 or K14 proteins are incorporated into intermediate filaments, rendering them sensitive to mechanical stress. Upon trauma, these filaments disrupt and the keratinocytes lyse, leading to intra-epidermal blistering.The dominant nature of K5 and K14 mutations in EBS-DM represents a challenge to gene-therapeutic approaches. Therefore, we investigated the gene expression profile of a K14 mutant keratinocyte cell line (EBDM1) and compared it to the gene expression profile of a wild-type keratinocyte cell line (NEB1). The aim of this study was to identify differentially regulated genes as potential therapeutic targets for the development of new therapies.
transcription profiling by array, cell type comparison, co-expression, in vitro
MMP-9 and CXCL8/IL-8 Are Potential Therapeutic Targets in Epidermolysis Bullosa Simplex . Lettner T, Lang R, Klausegger A, Hainzl S, Bauer JW and Wally V. PLoS ONE 8(7):1-14 (2013)