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https://www.um.edu.mt/library/oar/handle/123456789/93070| Title: | Zinc finger protein 384 (ZNF384) identified in early-onset familial osteoporosis |
| Authors: | Formosa, Melissa Marie Palazzo, Dalila Formosa, Robert Camilleri, Nikita Vassallo, Josanne Carola Zillikens, M. Uitterlinden, André G. Rivadeneira, Fernando Verkerk, Annemieke J. M. H. Xuereb-Anastasi, Angela |
| Keywords: | Osteoporosis in women -- Malta Osteoporosis -- Etiology Osteoporosis -- Genetic aspects Menopause -- Complications |
| Issue Date: | 2020-11 |
| Publisher: | John Wiley & Sons, Inc. |
| Citation: | Formosa, M. M., Palazzo, D., Formosa, R., Camilleri, N., Vassallo, J., Zillikens, M. C., ... Xuereb-Anastasi, A. (2020). Zinc finger protein 384 (ZNF384) identified in early-onset familial osteoporosis. Journal of Bone and Mineral Research, 35(s1), 129. |
| Abstract: | OBJECTIVES: Osteoporosis is a metabolic skeletal disease with a strong underlying genetic component. The study aimed to identify the genetic determinants of a penetrant form of early-onset osteoporosis in an extended Maltese family. METHODS: A 3-generation pedigree of 29 relatives with ages ranging from 21 to 81 years was recruited. Osteoporosis was defined using T-score or Z-score measures of the lumbar spine and hip derived from DXA scans. The proband had a hip T-score of -2.9. A genome-wide linkage scan followed by whole exome sequencing was performed, whereas shortlisted variants were tested using Competitive Allele Specific PCR in a case-control collection of Maltese postmenopausal women. Pre-mRNA splicing aberrance was tested using an exon-trapping vector transfected in SaOS2 and hFOB cells. [excerpt] |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/93070 |
| Appears in Collections: | Scholarly Works - FacHScABS |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| Zinc finger protein 384.pdf Restricted Access | 309.6 kB | Adobe PDF | View/Open Request a copy |
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