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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
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
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
GenomicsSingle-cell RNA-seq of fibroblasts from recessive dystrophic epidermolysis bullosa patients and wild-type controls
Single-cell RNA-seq of fibroblasts from recessive dystrophic epidermolysis bullosa patients and wild-type controls
PRJNA428940 | ENA
GenomicsSingle cell RNA-seq for a mouse model of recessive dystrophic epidermolysis bullosa
Single cell RNA-seq for a mouse model of recessive dystrophic epidermolysis bullosa
PRJNA751629 | ENA
UnknownSafety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Not available
S-EPMC6629162 | biostudies-literature
UnknownSplice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa.
Not available
S-EPMC11363305 | biostudies-literature
GenomicsTranscriptome profiling of cultured primary recessive dystrophic epidermolysis bullosa (RDEB) squamous cell carcinoma (SCC)
Transcriptome profiling of cultured primary recessive dystrophic epidermolysis bullosa (RDEB) squamous cell carcinoma (SCC)
PRJNA541951 | ENA
UnknownEx Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair.
Not available
S-EPMC6077132 | biostudies-literature
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