@article{10902/27878,
year = {2022},
month = {9},
url = {https://hdl.handle.net/10902/27878},
abstract = {Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease-causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these disorders. Based on this, we classify the known HBM genes into HBM (sub)groups according to uniform Gene Ontology (GO) terminology. This classification system may aid in hypothesis generation, for both wet lab experimental design and clinical genetic screening strategies. We discuss how functional genomics can shape discovery of novel HBM genes and/or mechanisms in the future, through implementation of omics assessments in existing and future model systems. Finally, we address strategies to improve gene identification in unsolved HBM cases and highlight the importance for cross-laboratory collaborations encompassing multidisciplinary efforts to transfer knowledge generated at the bench to the clinic.},
organization = {Acknowledgements: This publication is initiated upon work from the European Cooperation for Science and Technology (COST) Action GEMSTONE, supported by COST. COST is a funding agency for research and innovation networks. Our Actions help connect research initiatives across Europe and enable scientists to grow their ideas by sharing them with their peers. This boosts their research, career and innovation (www.cost.eu). We therefore thank current and former members of the COST GEMSTONE Working Group 3 (https://cost-gemstone.eu/working-groups/wg3-monogenic-conditions-human-ko-models/) for discussions and support during manuscript preparation. All figures in this manuscript were created with BioRender.com.},
publisher = {John Wiley & Sons},
publisher = {Journal of bone and mineral research 26 September 2022},
title = {High Bone Mass Disorders: New Insights from Connecting the Clinic and the Bench},
author = {Bergen, Dylan J. M. and Maurizi, Antonio and Formosa, Melissa M. and McDonald, Georgina L. K. and El-Gazzar, Ahmed and Hassan, Neelam and Brandi, Maria-Luisa and Riancho Moral, José Antonio and Rivadeneira, Fernando and Ntzani, Evangelia and Duncan, Emma L. and Gregson, Celia L. and Kiel, Douglas P. and Zillikens, M. Carola and Sangiorgi, Luca and Högler, Wolfgang and Duran, Ivan and Mäkitie, Outi and Van Hul, Wim and Hendricks, Gretl},
}