Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Idiopathic scoliosis in a Swedish pedigree

ABSTRACT: Exome sequencing of idiopathic scoliosis in a Swedish pedigree

PROVIDER: PRJEB22953 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	ERR2168181.fastq.gz	Fastqsanger.gz
	ERR2168182.fastq.gz	Fastqsanger.gz

Items per page:

1 - 2 of 2

Similar Datasets

Comparative Analysis of Paraspinal Muscle Imbalance Between Idiopathic Scoliosis and Congenital Scoliosis from the Transcriptome Aspect

Project description:Comparison of paraspinal muscle imbalance between idiopathic scoliosis and congenital scoliosis may shed some light on the causality of paraspinal muscle imbalance and idiopathic scoliosis. This study aims to compare the transcriptomic profiles of paraspinal muscle imbalance between idiopathic scoliosis and congenital scoliosis.

2024-01-31 | GSE254300 | GEO

Exosomal miRNA differences in Plasma in Adolescent idiopathic scoliosis patients

Project description:Plasma exosomal miRNA may differ between adolescent idiopathic scoliosis patients and healthy individuals. Sequencing analysis was used to find these differential miRNAs.

2024-05-15 | GSE235203 | GEO

Adolescent Idiopathic Scoliosis 1000 Exomes Study

Project description:Adolescent Idiopathic Scoliosis 1000 Exomes Study

| PRJNA488324 | ENA

Adolescent Idiopathic Scoliosis 1000 Exomes Study

Project description:Adolescent Idiopathic Scoliosis 1000 Exomes Study

| PRJNA488323 | ENA

Cytoskeletal Keratins Are Overexpressed in a Zebrafish Model 2 of Idiopathic Scoliosis

Project description:Idiopathic scoliosis (IS) is a three-dimensional rotation of the spine >10 degrees with an unknown etiology. Our laboratory established a late-onset IS model in zebrafish (Danio rerio) containing a deletion in kif7. 25% of kif7co63/co63 zebrafish develop spinal curvatures and are otherwise developmentally normal, although the molecular mechanisms underlying the scoliosis are unknown. To define transcripts associated with scoliosis in this model, we performed bulk mRNA sequencing on 6 weeks past fertilization (wpf) kif7co63/co63 zebrafish with and without scoliosis. Additionally, we sequenced kif7co63/co63, kif7co63/+, and AB zebrafish (n= 3 per genotype). Sequencing reads were aligned to the GRCz11 genome and FPKM values were calculated. Differences between groups were calculated for each transcript by t-test. Principal component analysis showed that transcriptomes clustered by sample age and genotype. kif7 mRNA was mildly reduced in both homozygous and heterozygous zebrafish compared to AB. Sonic hedgehog target genes were upregulated in kif7co63/co63 zebrafish over AB, but no difference was detected between scoliotic and non-scoliotic mutants. The top upregulated genes in scoliotic zebrafish were cytoskeletal keratins.. Pankeratin staining of 6 wpf scoliotic and non-scoliotic kif7co63/co63 zebrafish showed increased keratin levels within the zebrafish musculature and intervertebral disc (IVD). Keratins are major components of the embryonic notochord, and aberrant keratin expression has been associated with intervertebral disc degeneration (IVDD) in both zebrafish and humans. The role of increased keratin accumulation as a molecular mechanism associated with the onset of scoliosis warrants further study.

2023-05-03 | GSE231606 | GEO

Familial idiopathic scoliosis: gene discovery and functional studies

Project description:Familial idiopathic scoliosis: gene discovery and functional studies

| PRJNA671260 | ENA

African American adolescent idiopathic scoliosis whole genome and whole exome study

Project description:African American adolescent idiopathic scoliosis whole genome and whole exome study

| PRJNA904896 | ENA

African American adolescent idiopathic scoliosis whole genome and whole exome study

Project description:African American adolescent idiopathic scoliosis whole genome and whole exome study

| PRJNA904897 | ENA

Kids First Pediatric Research Project on Adolescent Idiopathic Scoliosis

Project description:Kids First Pediatric Research Project on Adolescent Idiopathic Scoliosis

| PRJNA394550 | ENA

Vitamin D Receptor gene (VDR) transcripts in bone, cartilage, muscles and blood and microarray analysis of vitamin D responsive genes expression in paravertebral muscles of Juvenile and Adolescent Idiopathic Scoliosis patients

Project description:The purpose of the study was to determine differences in mRNA concentration of VDR isoforms in bone, cartilage and paravertebral muscles between tissues from curve concavity and convexity, between JIS and AIS and to identify VDR responsive genes differentiating Juvenile and Adolescent Idiopathic Scoliosis in paravertebral muscles.

2012-02-29 | E-MTAB-980 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

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