Browse
Submit Data
Databases
API
Help

Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Transcription profiling of human scalp fibroblasts in four craniosynostosis disease groups

ABSTRACT: Comparison of four craniosynostosis disease groups of 10 samples each: Apert syndrome (AS), Muenke syndrome (MS), Saetre-Chotzen syndrome (SCS), and non-syndromic craniosynostosis (NSS).

ORGANISM(S): Homo sapiens

DISEASE(S): Apert syndrome

SUBMITTER: Elena Bochukova

PROVIDER: E-MEXP-2236 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Publications

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

Bochukova Elena G EG Soneji Shamit S Wall Steven A SA Wilkie Andrew O M AO

Journal of medical genetics 20090915 12

<h4>Background</h4>Craniosynostosis can be caused by both genetic and environmental factors, the relative contributions of which vary between patients. Genetic testing identifies a pathogenic mutation or chromosomal abnormality in ∼ 21% of cases, but it is likely that further causative mutations remain to be discovered.<h4>Objective</h4>To identify a shared signature of genetically determined craniosynostosis by comparing the expression patterns in three monogenic syndromes with a control group ...[more]

PMID: 19755431

Similar Datasets

Characterization of distinct classes of differential gene expression in osteoblast cultures from non-syndromic craniosynostosis bone

Project description:We report on explant osteoblast cultures from human patients, demonstrating that there are at least three sub-types of non-syndromic craniosynostosis defined by similarity of gene expression profiles. Osteoblast growth in culture, 23 craniosynostosis skull samples (7 metopic; 8 coronal; 3 lambdoid; 5 sagittal) and 8 normal (4 cranial bones and 4 long bones)

2014-07-16 | E-GEOD-55282 | biostudies-arrayexpress

Characterization of distinct classes of differential gene expression in osteoblast cultures from non-syndromic craniosynostosis bone

2014-07-16 | GSE55282 | GEO

Comparative tissue gene expression profiling and alternative splicing by exon-sensitive microarrays in non-syndromic craniosynostosis

Project description:Craniosynostosis (CS) is the congenital premature fusion of one or more cranial sutures and represents the more prevalent craniofacial malformation in humans, with an overall incidence of 1 out of 2000-3000 live births. Non-syndromic craniosynostoses (NSC) are believed to be multifactorial disorders, with a strong genetic component, due to possible gene–gene or gene–environment interactions that remain to be clearly identified. In this study we delved into the molecular signaling acting in calvarial tissue and cells from patients affected by nonsynodromic midline craniosynostosis, using a comparative analysis between fused and unfused sutures of each affected individuals. Using comparative microarray tissue gene expression profiling we have identified a subset of genes involved in the structure and function of the primary cilium, including the Bardet-Biedl syndrome 9 (BBS9) gene, which was recently associated to sagittal synostosis in a GWAS study. We therefore characterized BBS9 expression and cilium-related signaling in cells isolated from patients’ calvarial bone.

2018-05-31 | GSE79386 | GEO

Gene Expression Changes Between Patent and Fused Cranial Sutures in a Nonsyndromic Craniosynostosis Population

Project description:Assaying gene expression in sutural bone fragments from patients diagnosed with non-syndromic craniosynostosis. Sutural fragments were collected from both the fused and patent cranial suture of infants during cranial vault reconstruction. Gene expression was compared between the patent and fused sutures using the paired t-test. The aim was to identify thoses genes significantly differentially expressed in fused suture relative to patent.

2013-09-12 | GSE50796 | GEO

Operon Stromal upregulation of lateral epithelial adhesions

Project description:Microarray analysis was used to identify genes that were differentially expressed when epithelial cells were grown in 3D Matrigel culture with stromal co-culture compared to without stroma.

2011-01-01 | E-MEXP-2994 | biostudies-arrayexpress

Transcription profiling of human ES and keratinocyte cells in response to ionising radiation

Project description:I-131, a source of beta- and gamme radiation and the Auger electron emitter I-125 dU incorporated into nuclear DNA were compared in two cell lines , human ES cells and the keratinocyte cell line HaCaT.

2010-10-07 | E-MEXP-1843 | biostudies-arrayexpress

Transcription profiling of liver, kidney, fat and muscle in a rat congenic strain of the cardio-metabolic syndrome

Project description:Liver, Fat, Kidney and Muscle Gene Expression Profiles in a Rat Congenic Strain of the Cardio-Metabolic Syndrome

2008-07-04 | E-MEXP-1695 | biostudies-arrayexpress

Gene Expression Changes Between Patent and Fused Cranial Sutures in a Nonsyndromic Craniosynostosis Population

2013-09-12 | E-GEOD-50796 | biostudies-arrayexpress

Transcription profiling of human irradiated MOLT4 cells to measure measure of degradation rates by actinomycin D

Project description:MOLT4 cells in log phase (1x106 cells/ml) were irradiated with 4 Gy at room temperature, at a dose rate of 2.45 Gy/minute with a 137Cs ?-irradiator. After 4 hours, actinomycin D (5 ?M) was added to block transcription. Aliquots of culture were removed at hourly intervals and RNA was extracted (Trizol; Invitrogen). RNA and cRNA quantity and quality was determined by Nanodrop spectrophotometer and Bioanalyser 2100 (Agilent). Transcript levels were determined at different time points using Affymetrix Human U133A microarrays.<br><br>

2009-06-30 | E-MEXP-2179 | biostudies-arrayexpress

ChIP-chip by array of mouse cell lines and fresh tissues using anti-H3 trimethyl lysine 4.

Project description:Immunoprecipitations were performed using anti-H3 trimethyl lysine 4 (Millipore, 04-745 and gift from Dr. L. OM-oM->M-^RNeill, Birmingham, UK)

2010-06-09 | E-MEXP-2665 | biostudies-arrayexpress

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