Please use this identifier to cite or link to this item:
Title: Effect of the zinc finger protein 384 (ZNF384) in a family with osteoporosis
Authors: Formosa, Melissa Marie
Palazzo, Dalila
Formosa, Robert
Carola Zillikens, M.
Uitterlinden, André G.
Rivadeneira, Fernando
Verkerk, Annemieke J. M. H.
Xuereb-Anastasi, Angela
Keywords: Osteoporosis -- Genetic aspects
Osteoporosis -- Malta
Wnt pathway
Osteoporotic fractures
Bone morphogenetic proteins
Issue Date: 2018
Publisher: Springer Nature Switzerland AG
Citation: Formosa, M. M., Palazzo, D., Formosa, R., Zillikens, M. C., Uitterlinden, A. G., Rivadeneira, F., ... Xuereb-Anastasi, A. (2018). Effect of the zinc finger protein 384 (ZNF384) in a family with osteoporosis. Calcified Tissue International, 102, S081.
Abstract: OBJECTIVES: Osteoporosis is a skeletal disease having a strong genetic basis. The aim of the study was to identify the genetic cause of a highly penetrant form of osteoporosis in an extended Maltese family.
METHODS: A 3-generation family of 29 relatives aged from 21 to 81 years was recruited. Osteoporosis was defined by lumbar and hip T-scores and Z-scores derived from DXA measurements. A genome- wide linkage scan followed by exome sequencing was performed. Pre-mRNA splicing aberrance was tested using an exon-trapping vector transfected in SAOS2 and hFOB cells.
Appears in Collections:Scholarly Works - FacHScABS

Files in This Item:
File Description SizeFormat 
ECTS2018_Effect of the Zinc Finger Protein 384 (ZNF384) in a family with osteoporosi.pdf
  Restricted Access
756.1 kBAdobe PDFView/Open Request a copy

Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.