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https://www.um.edu.mt/library/oar/handle/123456789/93203| Title: | Exome sequencing with functional follow-up identifies KIF26B as a novel genetic determinant of familial osteoporosis |
| Authors: | Formosa, Melissa Marie Formosa, Robert Linde, Herma C. Van Der Metz, Juriaan R. Flik, Gert Khajuria, Deepak Kumar Karasik, David Carola Zillikens, M. Willemsen, Rob Uitterlinden, André G. Ham, Tjakko J. van Rivadeneira, Fernando Verkerk, Annemieke J. M. H. Xuereb-Anastasi, Angela |
| Keywords: | Exomes Osteoporosis -- Genetic aspects Osteoporosis -- Malta Wnt pathway |
| Issue Date: | 2019 |
| Publisher: | Springer Nature Switzerland AG |
| Citation: | Formosa, M. M., Formosa, R., van der Linde, H., Metz, J. R., Flik, G., Khajuria, D. K., ... Xuereb-Anastasi, A. (2019). Exome sequencing with functional follow-up identifies KIF26B as a novel genetic determinant of familial osteoporosis. Calcified Tissue International, 104, S15. |
| Abstract: | OBJECTIVES: Genetic factors play an important role in osteoporosis
pathogenesis. The study aimed to identify the genetic determinants of
primary osteoporosis in a Maltese family, and investigate functionality of novel genes and variants using in vitro and in vivo methods. METHODS: A 2-generation family of 12 relatives (including 7 siblings) aged 34–77 years was recruited. Osteoporosis was defined using DXA scans of the lumbar spine (LS) and hip. The proband had a LS T-score of - 4.0. Exome sequencing was performed on 6 relatives and replication of shortlisted variants was sought in the Malta Osteoporotic Fracture Study (MOFS, n = 1012). In vitro protein expression was analysed by transfecting in COS-7 cells and western blotting, whereas gene knockout consequences in zebrafish were assessed through measurements of BMD by micro-computed tomography, mineralisation rate using Alizarin red staining of the skeleton, and resorption activity by TRAcP staining of regenerating scales. [excerpt] |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/93203 |
| Appears in Collections: | Scholarly Works - FacHScABS |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| ECTS2019_Exome sequencing with functional follow-up identifies KIF26B as a novel genetic determinant of familial osteoporosis.pdf Restricted Access | 1.12 MB | Adobe PDF | View/Open Request a copy |
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