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Project: Analysis of the role of genetic variation in the TGFbeta pathway in the pathogenesis of aortic aneurysms

01-OCT-06 – 30-SEP-08

This proposal aims to improve our understanding of the pathogenesis of aortic aneurysms and especially the role of the TGFbeta signaling pathway. Polymophisms in the genes encoding for components of the TGFbeta signaling pathway will be analysed in a clinically well documented cohort of about 220 Marfan patients, all with proven FBN1 mutations. Also, a TGFBR1 knock-in mouse will be generated.