Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

RM47

ABSTRACT: DNA based diagnosis of rare diseases in veterinary medicine: A 4.4 kb deletion of ITGB4 causes epidermolysis bullosa in Charolais cattle

PROVIDER: PRJEB7528 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	ERR655005_1.fastq.gz	Fastqsanger.gz
	ERR655005_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 2 of 2

Similar Datasets

A scalable, GMP-compatible, autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa

Project description:Gene editing in induced pluripotent stem (iPS) cells has been hailed for enabling new cell therapies for various monogenetic diseases including dystrophic epidermolysis bullosa(DEB). However, manufacturing, efficacy, and safety roadblocks have limited the development of genetically corrected, autologous iPS cell-based therapies. We developed Dystrophic Epidermolysis Bullosa Cell Therapy (DEBCT), a new generation GMP-compatible (cGMP), reproducible, and scalable platform to produce autologous clinical-grade iPS cell-derived organotypic induced skin composite (iSC) grafts to treat incurable wounds of patients lacking type VII collagen (C7).

2024-06-30 | GSE229920 | GEO

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

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-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

C-type lectin receptor expression is a hallmark of neutrophils infiltrating the skin in epidermolysis bulls acquisita.

Project description:Characterization of neutrophil activation from blood to blister in experimental epidermolysis bullosa acquisita: C-type lectin receptors are dispensable in inducing disease.

2023-05-11 | GSE231971 | GEO

Bos taurus breed:Charolais

Project description:Use of WGS data to investigate the mutation responsible for Junctional Epidermolysis Bullosa in Charolais cattle

| PRJNA275587 | ENA

Project description:Epidermolysis bullosa and acrodermatitis enteropathica

| PRJNA594397 | ENA

Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa

Project description: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. Pre-clinical validation of our lead hit, daclatasvir, in a mouse model of RDEB demonstrated significant improvement in fibrosis as well as overall quality of life with increased survival, weight gain and activity, and a decrease in pruritus-induced hair loss. Immunohistochemical assessment of daclatasvir-treated RDEB mouse skin showed a reduction in fibrotic markers, which was supported by in vitro data demonstrating TGFβ pathway targeting and a reduction of total collagen retained in the extracellular matrix. Our data support clinical development of antivirals for treatment of patients with RDEB and potentially other fibrotic diseases.

2024-03-01 | GSE254347 | GEO

Homo sapiens

Project description:Microarray analysis of Epidermolysis bullosa simplex-mottled pigmentation

| PRJNA153203 | ENA