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In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance.
Clin Transl Med
January 2023
Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Background: SMC5/6 complex plays a vital role in maintaining genome stability, yet the relationship with human diseases has not been described.
Methods: SMC5 variation was identified through whole-exome sequencing (WES) and verified by Sanger sequencing. Immunoprecipitation, cytogenetic analysis, fluorescence activated cell sorting (FACS) and electron microscopy were used to elucidate the cellular consequences of patient's cells.
Variabilities in µQCT-based FEA of a tumoral bone mice model.
J Biomech
March 2021
Univ Lyon, Université Claude Bernard Lyon 1, INSERM, LYOS UMR 1033, 69008 Lyon, France. Electronic address:
A finite element analysis based on Micro-Quantitative Computed Tomography (µQCT) is a method with high potential to improve fracture risk prediction. However, the segmentation process and model generation are generally not automatized in their entirety. Even with a rigorous protocol, the operator might add uncertainties during the creation of the model.
View Article and Find Full Text PDFWnt3a reestablishes osteogenic capacity to bone grafts from aged animals.
J Bone Joint Surg Am
July 2013
Department of Orthopaedic Surgery, Stanford School of Medicine, Stanford, CA 94305, USA.
Background: Age-related fatty degeneration of the bone marrow contributes to delayed fracture-healing and osteoporosis-related fractures in the elderly. The mechanisms underlying this fatty change are unknown, but they may relate to the level of Wnt signaling within the aged marrow cavity.
Methods: Transgenic mice were used in conjunction with a syngeneic bone-graft model to follow the fates of cells involved in the engraftment.
Full-length spp24, but not its 18.5-kDa proteolytic fragment, inhibits bone-healing in a rodent model of spine fusion.
J Bone Joint Surg Am
June 2011
Biomedical Engineering Interdepartmental Program, School of Engineering and Applied Science, University of California Los Angeles, 5121 Engineering V, Los Angeles, CA 90095, USA.
Background: Growth factors like bone morphogenetic protein (BMP) are used as bone-graft substitutes to enhance bone growth in clinical situations. However, adverse reactions have been associated with BMP use. We developed a synthetic adjuvant therapy based on the sequence of a BMP-binding protein, secreted phosphoprotein-24 (spp24), which enhances the effects of BMPs and ameliorates the adverse reactions.
View Article and Find Full Text PDFPeri-implant bone density in senile osteoporosis-changes from implant placement to osseointegration.
Clin Implant Dent Relat Res
April 2013
Section of Oral Implantology, Department of Oral Rehabilitation, Fukuoka Dental College, 2-15-1 Tamura Sawara-ku, Fukuoka, 814-0193, Japan.
Purpose: The aim of this study was to examine healing over time after implant body placement in a senile osteoporosis model and a control group.
Materials And Methods: In this study, 16-week-old male mice were used. The senile osteoporosis model consisted of senescence-accelerated prone 6 mice and the control group consisted of senescence-accelerated resistant 1 mice.
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