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TranscriptomicsEpidermolysis bullosa associated cutaneous SCC fibroblast expression profiling
Patients with the genetic skin blistering disease recessive dystrophic epidermolysis bullosa (RDEB) develop aggressive cutaneous squamous cell carcinoma (cSCC). Metastasis leading to mortality is greater in RDEB than in other patient groups with cSCC. Here we investigate the dermal component in RDEB...
ORGANISM(S): Homo sapiens 
2012-05-15 | E-GEOD-37738 | biostudies-arrayexpress
TranscriptomicsDowling-Meara experiment 2
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 natu...
ORGANISM(S): Homo sapiens 
2013-07-23 | E-MTAB-1641 | biostudies-arrayexpress
TranscriptomicsMonozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity
Recessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis characterized by fragile skin forming blisters that heal invariably with scars. It is due to mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils connecting the cutaneous basement membr...
ORGANISM(S): Homo sapiens 
2014-04-03 | E-GEOD-51056 | biostudies-arrayexpress
TranscriptomicsMicroarray analysis of Epidermolysis bullosa simplex-mottled pigmentation
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...
ORGANISM(S): Homo sapiens 
2012-03-10 | E-GEOD-36406 | biostudies-arrayexpress
UnknownPain care for patients with epidermolysis bullosa: best care practice guidelines.
Not available
S-EPMC4190576 | biostudies-literature
UnknownCosts of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study.
Not available
S-EPMC10831550 | biostudies-literature
TranscriptomicsGene expression pattern of skin biopsies of epidermolysis bullosa simplex patients in comparison with control subjects
Tha altered biological pathways in Epidermolysis bulloda simplex, a rare monogenetic skin disease, have not been well characterized. Thus, the goal of this study is to characterize the expression profile of EBS patients compared with normal subjects using genomic expression analyses. Microarray anal...
ORGANISM(S): Homo sapiens 
2011-04-02 | E-GEOD-28315 | biostudies-arrayexpress
UnknownPain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).
Not available
S-EPMC11468479 | biostudies-literature
UnknownSafety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Not available
S-EPMC6629162 | biostudies-literature
TranscriptomicsDowling-Meara experiment 1
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 natu...
ORGANISM(S): Homo sapiens 
2013-07-23 | E-MTAB-1640 | biostudies-arrayexpress
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