Bone Abstracts

Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe skin blistering and erosions following minor mechanical trauma, it is a multisystem disorder with pubertal delay and low bone mass as part of the many complications.Children with RDEB have been described as having inadequate gains in bone...

Wnt signaling is a major regulator of bone metabolism. We recently reported that mutations in WNT1 gene in humans cause early onset osteoporosis and severe osteogenesis imperfecta. To identify the cellular source and the mechanisms causing these severe phenotypes we generated and analyzed global and conditional Wnt1 knockout mice.Heterozygous Wnt1+/− mice were viable and fertile but Wnt1−/− embryos were lost in ute...