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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
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
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
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
TranscriptomicsTranscription profiling of mouse model of Epidermolysis bullosa simplex keratin5 knockout epidermis response to doxycycline treatment
Epidermolysis bullosa simplex (EBS) is a skin disorder caused by mutations in keratin (K) 5 or K14 genes. Little effect therapy is available.Following clinical reports, we applied the small molecule doxycycline to K5-/- mice. We demonstrate that doxycycline extended the survival of neonatal K5-/- mi...
ORGANISM(S): Mus musculus 
2008-06-15 | E-GEOD-7662 | biostudies-arrayexpress
ProteomicsA compound-based therapy approach for epidermolysis bullosa simplex (EBS)
Keratin cytoskeletal proteins are crucial for the maintenance of skin integrity. Mutations in genes coding for K5 and K14 cause the human skin disorder epidermolysis bullosa simplex (EBS) leading to substantial alterations in keratin assembly and collapse of keratin filaments into cytoplasmic protei...
ORGANISM(S): Homo sapiens (Human) 
2022-06-29 | PXD030939 | Pride
Keratins Epidermolysis bullosa simplex Multi-kinase inhibitor Phosphorylation Therapy 
TranscriptomicsTranscription profiling of mouse model of Epidermolysis bullosa simplex (EBS) K5-/- skin reveals induction of inflammatory cytokines by a keratin mutation
Epidermolysis bullosa simplex (EBS) is a skin disorder caused by mutations in keratin (K) 5 or K14 genes. It is widely regarded as a mechanobullous disease, resulting from a weakened cytoskeleton, causing extensive cytolysis. It was postulated by others that certain K14 mutations induce TNF-alfa and...
ORGANISM(S): Mus musculus 
2008-06-15 | E-GEOD-7663 | biostudies-arrayexpress
ProteomicsEffects of 4-phenylbutyrate on human keratinocytes
Keratins 5 and 14 are critical for cytoskeletal integrity, as shown by missense mutations in these genes, which cause the severe skin fragility disorder epidermolysis bullosa simplex (EBS). The complexity of the pathomechanisms in EBS is not fully understood and no effective management exists. In ad...
ORGANISM(S): Homo sapiens (Human) 
2019-12-03 | PXD010028 | Pride
Epidermolysis bullosa Keratinocytes Skin Human Lc-ms/ms 
GenomicsAllele-Specific gene editing approach for a dominant form of Epidermolysis Bullosa Simplex I
Allele-Specific gene editing approach for a dominant form of Epidermolysis Bullosa Simplex I
PRJNA915117 | ENA
GenomicsAllele-Specific gene editing approach for a dominant form of Epidermolysis Bullosa Simplex II
Allele-Specific gene editing approach for a dominant form of Epidermolysis Bullosa Simplex II
PRJNA1032584 | ENA
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