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| Status |
Public on Mar 04, 2012 |
| Title |
Calvarial osteoblast transcriptome analysis identifies genetic targets and extracellular matrix-mediated focal adhesion as potential biomarkers for single-suture craniosynostosis |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Craniosynostosis is a disease defined by premature fusion of one or more cranial sutures. The mechanistic pathology of isolated single-suture craniosynostosis is complex and while a number of genetic biomarkers and environmental predispositions have been identified, in many cases the causes remain controversial and inconclusive at best. After controlling for variables contributing to potential bias, FGF7, SFRP4, and VCAM1 emerged as potential genetic biomarkers for single-suture craniosynostosis due to their significantly large changes in gene expression compared to the control population. Furthermore, pathway analysis implicated focal adhesion and extracellular matrix (ECM)-receptor interaction as differentially regulated gene networks when comparing all cases of single-suture synostosis and controls. Lastly, overall gene expression was found to be highly conserved between coronal and metopic cases, as evidenced by the fact that WNT2 and IGFBP2 were the only differentially regulated genes identified in a direct comparison. These results not only confirm the roles of previously reported craniosynostosis-related targets but also introduce novel genetic biomarkers and pathways that may play critical roles in its pathogenesis.
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| Overall design |
In this study, gene expression data from 199 patients with isolated sagittal (n= 100), unilateral coronal (n = 50), and metopic (n = 49) synostosis are compared against both a control population (n = 50), as well as each other.
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| Contributor(s) |
Beyer RP, Bammler TK, Cunningham ML, Stamper BD, Park SS, Mecham B |
| Citation(s) |
22028906, 23073384, 31442251, 22654505 |
| Submission date |
Mar 15, 2011 |
| Last update date |
Feb 18, 2020 |
| Contact name |
James William MacDonald |
| E-mail(s) |
jmacdon@uw.edu
|
| Organization name |
University of Washington
|
| Department |
Environmental and Occupational Health Sciences
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| Street address |
4225 Roosevelt Way NE
|
| City |
Seattle |
| State/province |
WA |
| ZIP/Postal code |
98105-6099 |
| Country |
USA |
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| Platforms (1) |
| GPL6244 |
[HuGene-1_0-st] Affymetrix Human Gene 1.0 ST Array [transcript (gene) version] |
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| Samples (249)
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| Relations |
| BioProject |
PRJNA137773 |
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