ESPE Yearbook of Paediatric Endocrinology

Brief Summary:Heterozygous, de novo variants in KIF5B are identified in 4 individuals with osteogenesis imperfecta. Studies of these KIF5B variants in C. elegans and cell models reveal the disease-causing mechanism. KIF5B seems important for intracellular trafficking and mTOR signaling to maintain skeletal homeostasis.Several years after the description of the last new osteogenesis imperfecta (OI)-related gene, the authors repo...

Brief Summary:This review summarizes findings in mice on a new lineage of osteoclast-related cells that play a role in bone homeostasis at the resorption front. These ‘osteomorphs’ derive from fission of osteoclasts and are long-lived. They seem to interact with RANKL and may be involved in the rebound bone loss that is seen following denosumab (RANKL antagonist) therapy. The authors speculate on translational roles for osteomorphs in humans, including bone catabolic...