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dc.contributor.authorFormosa, Melissa Marie-
dc.contributor.authorFormosa, Robert-
dc.contributor.authorLinde, Herma C. Van Der-
dc.contributor.authorMetz, Juriaan R.-
dc.contributor.authorFlik, Gert-
dc.contributor.authorKhajuria, Deepak Kumar-
dc.contributor.authorKarasik, David-
dc.contributor.authorCarola Zillikens, M.-
dc.contributor.authorWillemsen, Rob-
dc.contributor.authorUitterlinden, André G.-
dc.contributor.authorHam, Tjakko J. van-
dc.contributor.authorRivadeneira, Fernando-
dc.contributor.authorVerkerk, Annemieke J. M. H.-
dc.contributor.authorXuereb-Anastasi, Angela-
dc.identifier.citationFormosa, 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.en_GB
dc.description.abstractOBJECTIVES: 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.en_GB
dc.description.abstractMETHODS: 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.en_GB
dc.publisherSpringer Nature Switzerland AGen_GB
dc.subjectOsteoporosis -- Genetic aspectsen_GB
dc.subjectOsteoporosis -- Maltaen_GB
dc.subjectWnt pathwayen_GB
dc.titleExome sequencing with functional follow-up identifies KIF26B as a novel genetic determinant of familial osteoporosisen_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.bibliographicCitation.conferencenameEuropean Calcified Tissue Society Conference (ECTS 2019)en_GB
dc.bibliographicCitation.conferenceplaceBudapest, Hungary, 11-14/05/2019en_GB
dc.publication.titleCalcified Tissue Internationalen_GB
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