Bone Abstracts

Hip and forearm fractures are the two clinically most important non-vertebral fractures. Twin studies have demonstrated a high heritability of these fractures and the heritable component of fracture risk is largely independent of BMD.To identify common genetic variants associated with hip and forearm fractures, we performed a genome-wide association study (GWAS ~ 2.5 million SNPs) meta-analysis of two large fracture data sets within the well-characterize...

Screening gene function in vivo is a powerful approach to discover novel drug targets in the human genome (Nat Rev Drug Discov 2 38–51, 2003). We present data for 3776 distinct gene knockout (KO) mouse lines with viable adult homozygous mice generated using both gene-trapping and homologous recombination technologies. Bone mass was determined from PIXImus DEXA scans of male and female mice at 14 weeks of age and by microCT analyses of bones from ...

Collagen XV is a secreted proteoglycan localized in the outermost layer of the basement membrane and in the fibrillar matrix. Previously, the collagen XV gene (COL15A1) has been linked to osteogenic differentiation, being identified mainly in mature osteoblasts forming new bone tissue or lining bone trabeculae. Our previous data on collagen XV knockout fetuses reports subtle skeletal changes. The aim of this study was to analyse skeletal changes in adult mice lacking collagen ...

Damages of bones of facial skeleton lay down 8% from all damages, fractures of mandible are 85–90% from it. There are a lot of factors, that make worse the process of reparative regeneration of bone. Using of nitric fertilizers lead to heighten earning of nitric oxide into organism. It makes negative influence on reparative regeneration of bones.There are dates of research of 40 rats line Vistar in this article. The goal of this study was to examine...

Familial expansile osteolysis (FEO) is characterised by focal areas of increased bone turnover driven by bone-resorbing osteoclasts. The syndrome is caused by a heterozygous tandem insertion duplication mutation within the signal peptide region of TNFRSF11a (encoding receptor activator of NFκB; RANK). Our recent research has demonstrated that heterotrimeric receptor formation may hold the key to the disease phenotype. We have shown previously that, whilst homozygous overe...

Early-onset Paget’s disease of bone (ePDB), familial expansile osteolysis (FEO) and expansile skeletal hyperphosphatasia (ESH) are related syndromes caused by heterozygous tandem insertion duplication mutations within the signal peptide region of TNFRSF11a (encoding receptor activator of NFκB; RANK). Given that patients are always heterozygous for these mutations we have generated thirteen cell lines to investigate the molecular consequences of these mutations in...

ASARM peptide (acidic, serine- and aspartate-rich motif) and osteopontin (OPN) fragments accumulate in X-linked hypophosphatemia patients and/or in the Hyp mouse model and, when phosphorylated, potently inhibit mineralization in osteoblast cultures. To investigate this inhibition, we modeled the binding to hydroxyapatite of the human OPN-ASARM peptide (DDSHQSDESHHSDESDEL) using RosettaSurface computational simulations. Peptide binding to hydroxyapatite atomic planes constructe...

Objective: The aim of this study is to compare the bone health index (BHI) for healthy Swiss children born in 1955 with healthy Swiss children born a generation later.Method: BHI is derived from the cortical thickness in the three middle metacarpals. It is determined with the BoneXpert medical device, which automatically analyses a standard bone age hand radiograph. The measurement result is independent of the sharpness of the image. The image data are f...

Juvenile idiopathic arthritis (JIA) is associated with low bone mass, poor bone strength, and an increased fracture risk. Children with JIA enter adulthood with suboptimal bone mass. In children with JIA, fracturing of the 2nd metatarsal is common due to poor bone strength. Currently no gold standard measure exists for bone quality in the foot. A reproducible protocol is required to assess key bone outcomes at the 2nd metatarsal using pQCT.Objective: To ...

Background: Measurement and interpretation of metaphyseal shape in children is difficult. We aim to develop relevant assessment methods using commonly available spiral computed tomography (CT) scanning.Methods: We analysed 12 pairs of age and pubertal stage matched subjects from a larger group of children recruited into a non-interventional case–control study in which all had suffered trauma; half had sustained a fracture. Each subject underwent ant...