Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Fibroblast RNA-Seq data from three genodermatoses (RDEB, XPC and KS)

ABSTRACT: 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(S): Homo sapiens

PROVIDER: GSE119501 | GEO | 2019/03/12

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Transcriptome profiling of cultured primary recessive dystrophic epidermolysis bullosa (RDEB) squamous cell carcinoma (SCC)

Project description:Recessive dystrophic epidermolysis bullosa (RDEB) is a monogenetic skin disorder caused by mutations in the COL7A1 gene. Missing type VII collagen leads to severe blister formation and frequent chronic wounds. Patients suffering from RDEB are prone to develop particulary aggressive squamous cell carcinoma (SCC), representing the major cause of mortality. This dataset provides Affymetrix microarray (ClariomD) based whole transcriptome data on RNA isolated from cultured primary RDEB keratinocytes (RDEB-KC) as well as RDEB squamous cell carcinoma (RDEB-SCC). Cells were derived from punch biopsies or tumor resections from patients with confirmed diagnosis recessive dystrophic epidermolysis bullosa (RDEB). Primary KC and SCC were cultivated in fully defined medium till subconfluency. Total RNA was isolated and microarray assay performed.

2020-04-22 | GSE130925 | GEO

miRNA profiling of cultured primary recessive dystrophic epidermolysis bullosa (RDEB) squamous cell carcinoma (SCC)

Project description:Recessive dystrophic epidermolysis bullosa (RDEB) is a monogenetic skin disorder caused by mutations in the COL7A1 gene. Missing type VII collagen leads to severe blister formation and frequent chronic wounds. Patients suffering from RDEB are prone to develop particulary aggressive squamous cell carcinoma (SCC), representing the major cause of mortality. This dataset provides Affymetrix microarray (miRNA4.1) based whole transcriptome data on RNA isolated from cultured primary keratinocytes (KC) as well as squamous cell carcinoma (SCC). Cells were derived from punch biopsies or tumor resections from either healthy donors or SCC patients with or without the diagnosis recessive dystrophic epidermolysis bullosa (RDEB). Primary KC and SCC were cultivated in fully defined medium till subconfluency. Total RNA was isolated and microarray assay performed.

2020-04-22 | GSE130767 | GEO

Single-cell RNA-seq of fibroblasts from recessive dystrophic epidermolysis bullosa patients and wild-type controls

Project description:The goal of this study is to discover fibroblast subpopulations relevant to recessive dystrophic epidermolysis bullosa

2018-04-01 | GSE108849 | GEO

Proteomics study of skin tissues from RDEB cSCC, low-risk cSCC and metastasizing cSCC

Project description:Cutaneous squamous cell carcinoma (cSCC) is the leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB) patients but remains poorly studied on a proteomic level. We aim to characterize the RDEB-SCC proteome by comparing it to the proteomes of UV-light induced cSCC of non-aggressive and aggressive behavior with which RDEB cSCC share either the well-differentiated morphology or the aggressive behavior, respectively. We applied a direct trypsinization protocol using an acid labile surfactant and label-free quantitation to study formalin-fixed, paraffin-embedded tissues from patients with RDEB cSCC (n=6), low-risk cSCC (n=5) and metastasizing cSCC (n=13) by liquid chromatography tandem-mass spectrometry.

2017-11-27 | PXD006914 | Pride

Transcriptome profiling of cultured primary recessive dystrophic epidermolysis bullosa (RDEB) squamous cell carcinoma (SCC)

Project description:Transcriptome profiling of cultured primary recessive dystrophic epidermolysis bullosa (RDEB) squamous cell carcinoma (SCC)

| PRJNA541951 | ENA

miRNA profiling of cultured primary recessive dystrophic epidermolysis bullosa (RDEB) squamous cell carcinoma (SCC)

Project description:miRNA profiling of cultured primary recessive dystrophic epidermolysis bullosa (RDEB) squamous cell carcinoma (SCC)

| PRJNA541300 | ENA

Expression profiling of epidermolysis bullosa associated squamous carcinoma cells

Project description:Patients with the genetic skin blistering disease recessive dystrophic epidermolysis bullosa (RDEB) develop aggressive and metastatic cutaneous squamous cell carcinoma which is the principal cause of premature mortality in this patient group. We performed gene expression profiling of RDEB-SCC cells compared to RDEB keratinocytes in order to identify tumor-specific molecules that could potentially be exploited for detection, diagnosis, and therapy of this devastating disease.

2017-12-07 | GSE106571 | GEO

Single cell RNA sequencing of paw skin from healthy and Col7a1 knockout (RDEB) mice

Project description: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. Mice with RDEB symptoms, due to Col7a1 knockout, have been developed to study the disease's development and pathological manifestations in an in vivo model. Single cell RNA sequencing was performed on a single cell suspension of the paw skin of 2 week old RDEB mice, along with their wild-type littermates, to create a transcriptomic view of their dermal microenvironment. We analyzed the sequencing data at different resolutions. One focusing on the overall tissue level as well as closer analysis of specific cell types (fibroblasts, keratinocytes, immune cells, and vascular cells).

2023-03-02 | GSE222250 | GEO

Fibroblast RNA-Seq data from three genodermatoses (RDEB, XPC and KS)

Project description:Fibroblast RNA-Seq data from three genodermatoses (RDEB, XPC and KS)

| PRJNA489425 | ENA

Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa

Project description:Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa

| PRJNA1069778 | ENA