Bone Abstracts

The interaction of Receptor Activator of NFkB ligand (RANKL) with its cognate receptor RANK is crucial for osteoclast formation. We studied eight point mutations within human RANK associated with rare forms of osteopetrosis to gain mechanistic insights into the regulation of RANK signalling.We investigated the role of the oligomerisation domain within the cytoplasmic region of RANK studying two mutations (W434X and G280X) identified in rare cases of oste...

Objectives: Optic neuropathy (ON) is a critical complication of fibrous dysplasia (FD). Early surgical decompression can prevent blindness; however, prophylactic intervention may cause blindness from intra-operative nerve damage. There is therefore a critical need to develop diagnostic tests for accurate and early detection of ON in patients with FD. Currently used methodologies, including radiographic evaluation of optic canal size and optic nerve length, are suboptimal and c...

Biographical DetailsDr Brendan Lee is the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics, Professor and Interim Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine. Dr B Lee co-directs the joint MD Anderson Cancer Center and Baylor College of Medicine Rolanette and Berdon Lawrence Bone Disease Program of Texas, and the Baylor Co...

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Breastfeeding women resorb trabecular bone to supply much of the calcium content of milk. Few studies have examined the speed and extent of BMD recovery after weaning, or the factors that predict a greater post-lactation increase in BMD. We hypothesize that weight-bearing, nutrition, hormones, and other factors facilitate bone formation after lactation.The aims of the Factors Affecting Bone Formation After Breastfeeding Pilot Study (FABB-Pilot) were to d...

Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. Here, we report a 3-year old female patient who was diagnosed with a severe form of OI. Exome sequencing identified the same missense mutation in P4HB as reported in the original cohort, thus reinfo...

Cancer cell growth is dependent on the microenvironmental support. Prostate and mammary cancer (PCa and MCa) cells preferentially metastasize to bone, where they induce either an osteoblastic or osteolytic response. These opposite stromal responses suggest that different types of cancers adopt distinct strategies to hijack the bone marrow/bone stroma for their growth support. However, the molecular cues underlying these divergent responses are largely elusive.<p class="abs...

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...