Bone Abstracts

Bone loading is a primary determinant of bone strength in later childhood and adulthood. Our understanding of how mechanical stimuli generated by foetal kicking and movements impact skeletal development is still limited. Many studies suggest that a sufficient and balanced supply of energy, proteins, vitamins, calcium, phosphorus, and other nutrients is an essential prerequisite for normal bone development. However, only few studies highlight the contribution of the biomechanic...

: Hyperphosphatemic tumoral calcinosis (HTC) is a rare autosomal recessive metabolic disorder characterized by ectopic calcifications due to progressive deposition of basic calcium phosphate crystals in soft tissues. The biochemical hallmark of HTC is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in three genes: in the fibroblast growth factor-23 gene (FGF23) coding for a potent phosphaturic protein, in GALNT3, g...

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...