| Enhancer ID: | E_01_0717 |
| Species: | human |
| Position : | chr9:92410003-92412003 |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Craniosynostosis |
| Pubmed ID: | 29369995 |
| Enhancer experiment: | Liquid ChromatographyTandem Mass Spectrometry Analysis, |
| Enhancer experiment description: | Proteome analysis validated by immunohistochemistry may pro_x005f_x0002_vide insight into the mechanism of cranial suture patency and disease from an osteoclast perspective. The authors results suggest a role of inflammatory mediators in nonsyndromic craniosynostosis. Col6A1 may aid in the regulation of suture patency, and OMD may be involved in premature fusion. Additional validation studies are required. |
| Target gene : | OMD |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Proteome analysis validated by immunohistochemistry may pro_x005f_x0002_vide insight into the mechanism of cranial suture patency and disease from an osteoclast perspective. The authors results suggest a role of inflammatory mediators in nonsyndromic craniosynostosis. Col6A1 may aid in the regulation of suture patency, and OMD may be involved in premature fusion. Additional validation studies are required. |
| TF name : | -- |
| TF experiment: | Liquid ChromatographyTandem Mass Spectrometry Analysis, |
| TF experiment description: | Proteome analysis validated by immunohistochemistry may pro_x005f_x0002_vide insight into the mechanism of cranial suture patency and disease from an osteoclast perspective. The authors results suggest a role of inflammatory mediators in nonsyndromic craniosynostosis. Col6A1 may aid in the regulation of suture patency, and OMD may be involved in premature fusion. Additional validation studies are required. |
| Enhancer function : | Proteome analysis validated by immunohistochemistry may pro_x005f_x0002_vide insight into the mechanism of cranial suture patency and disease from an osteoclast perspective. The authors results suggest a role of inflammatory mediators in nonsyndromic craniosynostosis. Col6A1 may aid in the regulation of suture patency, and OMD may be involved in premature fusion. Additional validation studies are required. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Proteome analysis validated by immunohistochemistry may pro_x005f_x0002_vide insight into the mechanism of cranial suture patency and disease from an osteoclast perspective. The authors results suggest a role of inflammatory mediators in nonsyndromic craniosynostosis. Col6A1 may aid in the regulation of suture patency, and OMD may be involved in premature fusion. Additional validation studies are required. |
| SNP ID: | -- |
| GeneName | Pathway Name | Source | Gene Number |
|---|