| First Author | Mleynek TM | Year | 2014 |
| Journal | Hum Mol Genet | Volume | 23 |
| Issue | 23 | Pages | 6223-34 |
| PubMed ID | 24990152 | Mgi Jnum | J:215458 |
| Mgi Id | MGI:5605411 | Doi | 10.1093/hmg/ddu342 |
| Citation | Mleynek TM, et al. (2014) Lack of CCM1 induces hypersprouting and impairs response to flow. Hum Mol Genet 23(23):6223-34 |
| abstractText | Cerebral cavernous malformation (CCM) is a disease of vascular malformations known to be caused by mutations in one of three genes: CCM1, CCM2 or CCM3. Despite several studies, the mechanism of CCM lesion onset remains unclear. Using a Ccm1 knockout mouse model, we studied the morphogenesis of early lesion formation in the retina in order to provide insight into potential mechanisms. We demonstrate that lesions develop in a stereotypic location and pattern, preceded by endothelial hypersprouting as confirmed in a zebrafish model of disease. The vascular defects seen with loss of Ccm1 suggest a defect in endothelial flow response. Taken together, these results suggest new mechanisms of early CCM disease pathogenesis and provide a framework for further study. |
