COL1A1 and marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections: These were matrix metalloproteinases (MMPs, MMP2/3/9)5, 8, 11, 12 and cathepsins (cathepsin S/K/L)13 (that degrade extracellular matrix), collagen I α1 (COL1α1) and connective tissue growth factor (CTGF) (target genes indicating activation of the TGF-β signalling pathway in LDS)14, α-smooth muscle actin (α-SMA) and β-myosin heavy chain (β-MHC) (associated with familial thoracic aortic aneurysm and dissection syndrome)15.