Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Detection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long read sequencing

ABSTRACT: Revertant mosaicism (RM) is a phenomenon in which inherited mutations are spontaneously corrected in somatic cells. RM occurs in some congenital skin diseases, although genetic validation of RM in clinically revertant skin has been challenging, especially when homologous recombination (HR) is responsible for RM. We introduced Nanopore Cas9-targeted sequencing (nCATS) for identifying HR in clinically revertant skin.

ORGANISM(S): Escherichia coli Homo sapiens

PROVIDER: GSE186002 | GEO | 2022/01/13

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

Detection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long read sequencing

Project description:Detection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long read sequencing

| PRJNA771681 | ENA

Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.

Project description: Not available

| S-EPMC1271383 | biostudies-literature

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.

Project description: Not available

| S-EPMC5823395 | biostudies-literature

Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.

Project description: Not available

| S-EPMC1857245 | biostudies-literature

Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.

Project description: Not available

| S-EPMC6766431 | biostudies-literature

Microarray analysis of Epidermolysis bullosa simplex-mottled pigmentation

Project description: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 (RMA) normalization and Smyth’s moderated t test were used to select differentially expressed genes. Expression profiling comparisons show that 52 genes are differentially expressed in EBS-MP patients compared to control subjects. Difference of expression for three genes (TYR, CCL22 , and ACVR1C ) was validated using real-time reverse transcription–polymerase chain reaction. Twelve genes were related to lipid biosynthesis process, two to keratinisation and skin pigmentation, Nineteen to cell growth and apoptosis, five to immune response and fourteen to predicted or less known function cluster. To our knowledge, the distinctive pattern of gene expression that characterizes EBS-MP versus healthy skin tissue has never been reported. RNA used for the microarrays analysis was isolated from superficial 2mm punch biopsies composed of mainly epidermis with minimal dermis amounts of normal-appearing skin of one EBS-MP patient and seven healthy volunteers.

2012-03-10 | E-GEOD-36406 | biostudies-arrayexpress

PDGFR signaling in recessive dystrophic epidermolysis bullosa

Project description:Seven sets of SILAC-based AP-MS experiments were performed analyzing phosphotyrosine signaling after 0, 5, and 10 min of PDGF-BB treatment of primary human skin fibroblasts. For this, proteins phosphorylated on tyrosine residues were enriched using the 4G10 antibody.

2021-11-01 | PXD022985 | Pride

Microarray analysis of Epidermolysis bullosa simplex-mottled pigmentation

2012-03-10 | GSE36406 | GEO

Epidermolysis bullosa associated cutaneous SCC fibroblast expression profiling

Project description: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. While gene expression of RDEB normal skin fibroblasts resembled that of cancer-associated fibroblasts, RDEB cancer-associated fibroblasts exhibited a distinct and divergent gene expression profile, with a large proportion of the differentially expressed genes involved in matrix and cell adhesion. RDEB cancer-associated fibroblasts conferred increased adhesion and invasion to tumor and non-tumor keratinocytes. Reduction of COL7A1, the defective gene in RDEB, in normal dermal fibroblasts led to increased type XII collagen, thrombospondin-1 and Wnt-5A, while re-expression of wild type COL7A1 in RDEB fibroblasts decreased type XII collagen, thrombospondin- 1, and Wnt-5A expression, reduced tumor cell invasion in organotypic culture, and restricted tumor growth in vivo. Overall our findings demonstrate that matrix composition in patients with RDEB is a permissive environment for tumor development, and type VII collagen directly regulates the composition of matrix proteins secreted by dermal and cancer-associated fibroblasts. 16 samples

2012-05-15 | E-GEOD-37738 | biostudies-arrayexpress

Epidermolysis bullosa associated cutaneous SCC fibroblast expression profiling

2012-05-16 | GSE37738 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data