GEO DataSets

(Submitter supplied) Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder caused by loss of function of the Col7a1 gene that encodes collagen VII, a critical structural protein that anchors the epidermis to the dermis. Manifestations of this disease include chronic wounding, blistering, immune dysfunction, and eventually squamous cell carcinoma. Symptoms are likely due to the disruption and dysregulation of the dermal microenvironment. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24247

4 Samples

Download data: H5AD, LOOM

(Submitter supplied) 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 using mRNA expression profiling to compare cultured fibroblasts isolated from individuals without cSCC and directly from tumor matrix in RDEB and non-RDEB samples. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL4133

16 Samples

Download data: TXT

(Submitter supplied) 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 membrane to the dermis. Identical COL7A1 mutations often result in inter- and intra-familial disease variability, suggesting that additional modifiers contribute to RDEB course. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platforms:

GPL570 GPL571

8 Samples

Download data: CEL

(Submitter supplied) Recessive dystrophic epidermolysis bullosa (RDEB) is a severely debilitating disorder caused by mutations in COL7A1 and is characterized by extreme skin fragility, chronic inflammation and fibrosis. A majority of RDEB patients develop squamous cell carcinoma (SCC), a highly aggressive skin cancer with limited treatment options currently available. In this study, we utilized a novel approach leveraging WGS and RNA-seq across three different tissues in a single RDEB patient to gain insight into possible mechanisms of RDEB-associated SCC progression and to identify potential novel therapeutic options. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24676

2 Samples

Download data: CSV

(Submitter supplied) Recessive dystrophic epidermolysis bullosa, Kindler syndrome and xeroderma pigmentosum C, are three cancer-prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. Recent evidence highlights the contributing role of the stromal microenvironment in the pathology of these disorders. To investigate common mechanisms that contribute to the pathogenic role played by dermal fibroblasts, we conducted a comparative gene expression analysis by RNA-Seq.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL11154

18 Samples

Download data: XLSX

(Submitter supplied) The goal of this RNA-seq experiment was to determine how gene expression in RDEBSCC cell lines was altered relative to normal culture conditions when the culture media was supplemented with TGFb1 or TGFb1 and a TGFb1 inhibitor (SB431542).

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL16791

25 Samples

Download data: XLSX

(Submitter supplied) The molecular basis to the chronic inflammation and scarring in RDEB skin has been partially characterized but the current data on cytokine, chemokine, matrix and cell pathologies in RDEB skin have yet to yield new interventional therapies for patients. Here we performed a detailed assessment of RDEB wound gene expression in combination with a reverse transcriptomics analysis which indicate genes and drugs that could promote wound healing in RDEB.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL28270

18 Samples

Download data: IDAT, TXT

(Submitter supplied) Recessive dystrophic epidermolysis bullosa (RDEB), intractable skin genetic disease, is caused by mutations in COL7A1. Most RDEB patients have mutations in a compound heterozygous manner. We established an RDEB model mouse with patient type mutations in a compound heterozygous manner. We selected two mutations, c.5818delC and E2857X, which is recurrently identified in human RDEB cohort, and introduced the mutations at corresponding locations of the mouse genome. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL30172

32 Samples

Download data: TAR

(Submitter supplied) Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing and altered dermal fibroblast physiology. Using a novel in vitro model of fibrosis based on endogenously produced extracellular matrix, we screened an FDA-approved compound library and identified antivirals as a class of drug not previously associated with anti-fibrotic action. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24676

6 Samples

Download data: XLS

(Submitter supplied) RNA-Seq was performed on 8 actinic keratoses (AK) to identify differentially expressed genes in AK vs normal skin and cutaneous squamous cell carcinoma

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL11154

8 Samples

Download data: TXT

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens; Mus musculus

Type:

Expression profiling by high throughput sequencing

Platforms:

GPL24676 GPL24247

29 Samples

Download data: MTX, TSV

(Submitter supplied) The complex system by which the skin regulates immune responses to the external environment is unclear. Here, we investigated cell-cell interactions underlying cutaneous defense against S. aureus. Single-cell transcriptomics (scRNA-Seq) and unbiased network analysis revealed unexpected, dominant IL-17-mediated dermal reticular fibroblast-to-neutrophil communication. Multi-faceted in vitro omics studies demonstrated that IL-17 synergized with several factors including TNF⍺ to induce fibroblast NFKBIZ and chemokine secretion. more...

Organism:

Mus musculus; Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platforms:

GPL24676 GPL24247

23 Samples

Download data: CSV

(Submitter supplied) Epidermal keratinoyctes consitute the primary physical and biological barrier of the skin. The goal of this study is to determine the functions of keratinocyte UBE2N in regulation of skin homeostasis and immunity.

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24247

2 Samples

Download data: MTX, TSV