Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high
mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted …

Genetic predisposition and risk factors such as hypertension and smoking can instigate the
development of thoracic aortic aneurysm (TAA), which can lead to highly lethal aortic wall …

Basement membranes (BMs) are specialised extracellular matrix (ECM) structures and
collagens are a key component required for BM function. While collagen IV is the major BM …

Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%,
are potentially lethal, via rupture or dissection. Over the prior two decades, there has been …

Objective: While rare variants in the COL5A1 gene have been associated with classical
Ehlers-Danlos syndrome and rarely with arterial dissections, recurrent variants in COL5A1 …

Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from
mutations in the gene GBA1 that lead to a deficiency in the enzyme glucocerebrosidase …

Connective tissue is known to provide structural and functional “glue” properties to other
tissues. It contains cellular and molecular components that are arranged in several dynamic …

The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection
(TAA/D) is represented by the early detection of a disease that is both deadly and “elusive” …

Over 1250 mutations in SCN1A, the Nav1. 1 voltage-gated sodium channel gene, are
associated with seizure disorders including GEFS+. To evaluate how a specific mutation …

Thoracic aortic diseases, whether sporadic or due to a genetic disorder such as Marfan
syndrome, lack effective medical therapies, with limited translation of treatments that are …