Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
Cold Spring Harb Perspect Med. 2012 Aug 1;2(8):a009688. doi: 10.1101/cshperspect.a009688.
Vascular anomalies are localized abnormalities that occur during vascular development. Several causative genes have been identified not only for inherited but also for some sporadic forms, and the molecular pathways involved are becoming understood. This gives us the opportunity to generate animals carrying the causative genetic defects, which we hope model the phenotype seen in human patients. These models would enable us not only to test known antiangiogenic drugs, but also to develop novel approaches for treatment, directly targeting the mutated protein or molecules implicated in the pathophysiological signaling pathways.
血管异常是在血管发育过程中发生的局部异常。不仅遗传性血管异常，而且一些散发性血管异常也已经确定了几个致病基因，并且相关的分子途径也逐渐被了解。这使我们有机会产生携带致病遗传缺陷的动物，我们希望这些动物模型能够模拟人类患者的表型。这些模型不仅使我们能够测试已知的抗血管生成药物，而且还使我们能够直接针对病理生理信号通路中涉及的突变蛋白或分子开发新的治疗方法。
