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 |
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