Background Several new genes and clinical subtypes have been identified since the
publication in 2014 of the report of the last International Consensus Meeting on …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays
multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue …

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 …

Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB
and autosomal recessive manner RDEB, both of which result from mutations in the type VII …

Epidermolysis bullosa (EB) is a group of rare genetic disorders for which significant progress
has been achieved in the development of molecular therapies in the last few decades. Such …

The extracellular matrix (ECM) is a complex network of proteins and proteoglycans secreted
by keratinocytes, fibroblasts and immune cells. The function of the skin ECM has expanded …

There are many proposed non-antimicrobial actions of tetracyclines. Pathways affected by
these medications are often overexpressed in various dermatologic conditions. Matrix …

The phenotypic presentation of monogenetic diseases is determined not only by the nature
of the causative mutations but also is influenced by manifold cellular, microenvironmental …

Ets factors are members of one of the largest families of evolutionarily conserved
transcription factors, regulating critical functions in normal cell homeostasis, which when …