TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction.

Transforming growth factor β2 mutations and familial thoracic aortic aneurysms.

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility.

Aortic aneurysm, including both abdominal aortic aneurysm and thoracic aortic aneurysm, is the cause of death of 1% to 2% of the Western population. This review focuses only on thoracic aortic aneurysms and dissections. During the past decade, the genetic contribution to the pathogenesis of thoracic aortic aneurysms and dissections has revealed perturbed extracellular matrix signaling cascade i...

Heritable thoracic aortic aneurysm disease: recognizing phenotypes, exploring genotypes.

SEE PAGE 1324 T he discovery of a thoracic aortic aneurysm (TAA) or aortic dissection requires evaluation of relatives for similar disease because 20% will have an affected relative. Heritable TAA diseases are due to mutations in a number of genes that affect the aorta and its branches with differing severity. Many disorders are associated with wellcharacterized syndromic features (e.g., Marfan...

Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

Mutations in the gene encoding transforming growth factor-beta receptor type II (TGFBR2) have been described in patients with Loeys-Dietz syndrome (LDS), Marfan syndrome type 2 (MFS2) and familial thoracic aortic aneurysms and dissections (TAAD). Here, we present a comprehensive and quantitative analysis of TGFBR2 expression, turnover and TGF-β-induced Smad and ERK signaling activity for nine m...

Is losartan the true panacea for aneurysm disease? PRO.

Aortic aneurysms remain a common medical condition in the twenty-first century. Although surgical repair remains the standard of care for patients with enlarging and advanced aneurysmal disease, new insights into the pathogenesis of aortic aneurysm have resulted in an interest in targeting these pathways and reducing the rate of aneurysm expansion. The renin-angiotensin system is known to play ...