Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Genome-wide Identification of Variants Affecting Early Human Brain Development

ABSTRACT: Genome-wide Identification of Variants Affecting Early Human Brain Development

PROVIDER: PRJNA397246 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Identification of differentially regulated splice variants and novel exons in glial brain tumors using exon arrays

Project description:Aberrant splice variants are involved in the initiation and/or progression of glial brain tumors. We therefore set out to identify splice variants that are differentially expressed between histological subgroups of gliomas. Splice variants were identified using a novel platform that profiles the expression of virtually all known and predicted exons present in the human genome. Exon-level expression profiling was performed on 26 glioblastomas, 22 oligodendrogliomas and 6 control brain samples. Our results demonstrate that Human Exon arrays can identify subgroups of gliomas based on their histological appearance and genetic aberrations. We next used our expression data to identify differentially expressed splice variants. In two independent approaches, we identified 49 and up to 459 exons that are differentially spliced between glioblastomas and oligodendrogliomas a subset of which (47% and 33%) were confirmed by RT-PCR. In addition, exon-level expression profiling also identified >700 novel exons. Expression of ~67% of these candidate novel exons was confirmed by RT-PCR. Our results indicate that exon-level expression profiling can be used to molecularly classify brain tumor subgroups, can identify differentially regulated splice variants and can identify novel exons. The splice variants identified by exon-level expression profiling may help to detect the genetic changes that cause or maintain gliomas and may serve as novel treatment targets. Keywords: cell type comparison 6 adult non diseased brain, 26 glioblastomas, 21 oligodendrogliomas

2008-01-28 | E-GEOD-9385 | biostudies-arrayexpress

Genome-wide search for exonic variants affecting translational efficiency

Project description:To date, the search for expression quantitative trait loci (eQTL) has centered entirely on transcription; variants with effects on mRNA translation have not been systematically studied. We tested the use of ribosomal association as proxy for translational efficiency of polymorphic mRNAs to develop a novel high throughput approach for translational cis-regulation in the human genome.

2013-04-18 | GSE46195 | GEO

Homo sapiens

Project description:Genome-wide Identification of Variants Affecting Early Human Brain Development

| PRJNA397247 | ENA

Identification of differentially regulated splice variants and novel exons in glial brain tumors using exon arrays

2008-01-29 | GSE9385 | GEO

ITGAV variants are associated with immune dysregulation, brain abnormalities, and very early onset Inflammatory Bowel Disease

Project description:ITGAV variants are associated with immune dysregulation, brain abnormalities, and very early onset Inflammatory Bowel Disease

| PRJNA1046526 | ENA

Genome-Wide Scan for Genetic Variants Associated with Early Onset Prostate Cancer

Project description:Genome-Wide Scan for Genetic Variants Associated with Early Onset Prostate Cancer

| PRJNA338514 | ENA

ITGAV variants are associated with immune dysregulation, brain abnormalities, and very early onset Inflammatory Bowel Disease

Project description:Integrin alpha–V (ITGAV) forms heterodimers with beta subunits to regulate several cellular processes including transforming growth factor β (TGF-β) signaling. We examined three unrelated families with common disease features including two children born with congenital brain anomalies and later development of immune dysregulation, atopy, and colitis, and three fetuses with brain and developmental defects. Using whole exome and RNA sequencing and functional studies, we demonstrate that biallelic ITGAV variants caused abnormal splicing or mislocalized protein that led to dysregulated TGF-β signaling in these families. Furthermore, knockout itgav (-/-) zebrafish embryos developed brain defects with loss of microglia and juvenile itgav (-/-) zebrafish developed colitis. Together, we show the critical role of ITGAV in immune regulation and gut and brain homeostasis and disease pathogenesis.

2024-09-30 | GSE248975 | GEO

Novel risk variants affecting enhancers of TH1 and TREG cells in type 1 diabetes

Project description:Novel risk variants affecting enhancers of TH1 and TREG cells in type 1 diabetes

| PRJNA445707 | ENA

Integrating multi-omics data to identify key functional variants affecting feed efficiency in pigs

Project description:Integrating multi-omics data to identify key functional variants affecting feed efficiency in pigs

| PRJNA1125043 | ENA

Metagenomic signatures of early life brain damage

Project description:Metagenomic signatures of early life brain damage

| PRJNA1112760 | ENA