Genetic studies in animals and humans indicate that gene mutations that functionally perturb
transforming growth factor β (TGF-β) signaling are linked to specific hereditary vascular …

The lung's unique extracellular matrix (ECM), while providing structural support for cells, is
critical in the regulation of developmental organogenesis, homeostasis and injury-repair …

Fibrillin microfibrils are extensible polymers that endow connective tissues with long-range
elasticity and have widespread distributions in both elastic and non-elastic tissues. They act …

The fibulin family of extracellular matrix/matricellular proteins is composed of long fibulins
(fibulin-1,-2,-6) and short fibulins (fibulin-3,-4,-5,-7) and is involved in protein–protein …

Nonsense-mediated mRNA decay (NMD) is a regulatory pathway that functions to degrade
transcripts containing premature termination codons (PTCs) and to maintain normal …

Purpose We delineate the clinical spectrum and describe the histology in arterial tortuosity
syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large …

As essential components of our connective tissues, elastic fibres give tissues such as major
blood vessels, skin and the lungs their elasticity. Their formation is complex and co …

Background Chronic obstructive pulmonary disease (COPD) is a progressive, incurable lung
disease characterised by abnormal tissue repair causing emphysema and small airways …

Many extensible tissues such as skin, lungs, and blood vessels require elasticity to function
properly. The recoil of elastic energy stored during a stretching phase is provided by elastic …

Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose
redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber …