Bronchiectasis is characterised by pathological dilation of the airways. More specifically, the
radiographic demonstration of airway enlargement is the common feature of a …

Transforming growth factor beta (TGFβ) signalling is essential for wound healing, including
both non-specific scar formation and tissue-specific regeneration. Specific TGFβ isoforms …

Genetic loss of collagen VII causes recessive dystrophic epidermolysis bullosa (RDEB)—a
severe skin fragility disorder associated with lifelong blistering and disabling progressive …

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal
dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important …

Abstract The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the
cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic …

Osteoporosis in children differs from adults in terms of definition, diagnosis, monitoring and
treatment options. Primary osteoporosis comprises primarily of osteogenesis imperfecta (OI) …

Aortic dissection and aortic aneurysms are currently among the most high-risk
cardiovascular diseases due to their rapid onset and high mortality. Although aneurysm …

Drug candidates exhibiting well-defined pharmacokinetic and pharmacodynamic profiles
that are otherwise safe often fail to demonstrate proof-of-concept in phase II and III trials …

Highlights•No medical intervention can completely arrest aneurysmal growth.•Drugs with
immediate translational potential in Marfan syndrome include resveratrol, doxycycline …

Marfan Syndrome (MFS) is a rare connective tissue disorder, resulting from mutations in the
fibrillin-1 gene, characterized by pathologic phenotypes in multiple organs, the most …