TY - JOUR AU - Roca-Ayats, Neus AU - Ng, Pei Ying AU - Garcia-Giralt, Natalia AU - Falco-Mascaro, Maite AU - Cozar, Mónica AU - Abril, Josep Francesc AU - Quesada Gomez, Jose Manuel AU - Prieto-Alhambra, Daniel AU - Nogues, Xavier AU - Dunford, James E AU - Russell, R Graham AU - Baron, Roland AU - Grinberg, Daniel AU - Balcells, Susana AU - Diez-Perez, Adolfo PY - 2018 DO - 10.1002/jbmr.3580 UR - http://hdl.handle.net/10668/12910 T2 - Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research AB - Atypical femoral fractures (AFFs) are a rare but potentially devastating event, often but not always linked to bisphosphonate (BP) therapy. The pathogenic mechanisms underlying AFFs remain obscure, and there are no tests available that might assist in... LA - en PB - Oxford University Press KW - Atypical femoral fractures KW - Bisphosphonates KW - GGPS1 KW - WES KW - Animals KW - Dimethylallyltranstransferase KW - Farnesyltranstransferase KW - Female KW - Femoral Fractures KW - Femur KW - Geranyltranstransferase KW - Humans KW - Mice KW - Mutation KW - RANK Ligand KW - RAW 264.7 Cells KW - RNA, Small Interfering KW - Exome Sequencing TI - Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types. TY - research article VL - 33 ER -