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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
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
UnknownItch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study.
Not available
S-EPMC10410928 | biostudies-literature
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
UnknownSafety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Not available
S-EPMC6629162 | biostudies-literature
UnknownPain care for patients with epidermolysis bullosa: best care practice guidelines.
Not available
S-EPMC4190576 | biostudies-literature
UnknownPain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).
Not available
S-EPMC11468479 | biostudies-literature
UnknownSplice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa.
Not available
S-EPMC11363305 | biostudies-literature
UnknownSephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.
Not available
S-EPMC12716802 | biostudies-literature
UnknownCRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells.
Not available
S-EPMC6936361 | biostudies-literature
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