Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Mutation in FKBP10 causes early onset of scoliosis

ABSTRACT: Mutation in FKBP10 causes early onset of scoliosis

PROVIDER: PRJNA749759 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR15249801_1.fastq.gz	Fastqsanger.gz
	SRR15249801_2.fastq.gz	Fastqsanger.gz
	SRR15249794_1.fastq.gz	Fastqsanger.gz
	SRR15249794_2.fastq.gz	Fastqsanger.gz
	SRR15249795_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 12

Similar Datasets

Mutation in FKBP10 causes early onset of scoliosis

Project description:Scoliosis is a three-dimensional structural deformity of the spine, while the underlying pathogenesis is not fully uncovered. Osteogenesis imperfecta (OI), known as brittle bone disease, is a group of rare genetic disorder associated with osteopenia, deformity and scoliosis. Here we found the mutation in FKBP10 resulted in early onset of scoliosis via deleterious effects on collagen processing and osteoblast differentiation.

2024-07-01 | GSE180838 | GEO

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

Early Onset Malignancies Initiative

Project description:Early Onset Malignancies Initiative

| PRJNA597501 | ENA

Early Onset Malignancies Initiative

Project description:Early Onset Malignancies Initiative

| PRJNA597502 | ENA

Distinct Metastatic Phenotypes Between Early-onset and Late-onset Colorectal Cancer

Project description:The clinical and pathological features of early-onset colorectal cancer (EOCRC) differ from those of late-onset colorectal cancer (LOCRC). Our research aims to thoroughly elucidate the distinctions between them by analyzing clinical prognosis, metastatic patterns, gene expression, and genomic mutation profiles. Our deliberation will uncover latent strategies for personalized therapeutic of both EOCRC and LOCRC.

| 92169 | ecrin-mdr-crc

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

Boston Early-Onset COPD Study

Project description:Boston Early-Onset COPD Study

| PRJNA326857 | ENA

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

Project description:APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

| PRJNA437465 | ENA

SNP array in severe early-onset obesity

Project description:Obesity is considered a multifactorial disorder with high heritability (50-75%), probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including CNVs, have been defined, the genetic causes underlying the disease still remain largely unknown. We aimed to identify novel genetic and genomic abnormalities in a cohort of Spanish children with severe non-syndromic early-onset obesity (EOO). We obtained molecular karyotypes of 157 children with EOO. Large and rare CNVs were validated and segregated in the family. A higher burden of duplication-type CNVs was detected in EOO patients versus controls (OR=1.85, p-value=0.008).

2017-04-28 | E-MTAB-5680 | biostudies-arrayexpress

ADAR1 mutation causes ZBP1-dependent immunopathology

Project description:ADAR1 mutation causes ZBP1-dependent immunopathology

| PRJNA827028 | ENA