The transport of specific molecules across lipid membranes is an essential function of all
living organisms and a large number of specific transporters have evolved to carry out this …

Elastic fibres are essential extracellular matrix macromolecules comprising an elastin core
surrounded by a mantle of fibrillin-rich microfibrils. They endow connective tissues such as …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

Human skin consists of a stratified, cellular epidermis and an underlying dermis of
connective tissue [1–5]. The dermal–epidermal junction is undulating in section; ridges of …

Multidrug Resistance Proteins (MRPs), together with the cystic fibrosis conductance
regulator (CFTR/ABCC7) and the sulfonylurea receptors (SUR1/ABCC8 and SUR2/ABCC9) …

Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive
inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein …

Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial
calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated …

The ATP‐binding cassette (ABC) transporters are a superfamily of membrane proteins that
are best known for their ability to transport a wide variety of exogenous and endogenous …

Pseudoxanthoma elasticum (PXE) is an inherited systemic disease of connective tissue
primarily affecting the skin, retina, and cardiovascular system. It is characterised …

The liver is beyond any doubt the most important metabolic organ of the human body. This
function requires an intensive crosstalk within liver cellular structures, but also with other …