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DC Field | Value | Language |
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dc.contributor.author | Bergen, Dylan J.M. | - |
dc.contributor.author | Maurizi, Antonio | - |
dc.contributor.author | Formosa, Melissa Marie | - |
dc.contributor.author | McDonald, Georgina L. K. | - |
dc.contributor.author | El-Gazzar, Ahmed | - |
dc.contributor.author | Hassan, Neelam | - |
dc.contributor.author | Brandi, Maria Luisa | - |
dc.contributor.author | Riancho, Jose A. | - |
dc.contributor.author | Rivadeneira, Fernando | - |
dc.contributor.author | Ntzani, Evangelia | - |
dc.contributor.author | Duncan, Emma L. | - |
dc.contributor.author | Gregson, Celia L. | - |
dc.contributor.author | Kiel, Douglas P. | - |
dc.contributor.author | Zillikens, M. Carola | - |
dc.contributor.author | Sangiorgi, Luca | - |
dc.contributor.author | Hogler, Wolfgang | - |
dc.contributor.author | Duran, Ivan | - |
dc.contributor.author | Makitie, Outi | - |
dc.contributor.author | Van Hul, Wim | - |
dc.contributor.author | Hendrickx, Gretl | - |
dc.date.accessioned | 2023-02-07T18:49:24Z | - |
dc.date.available | 2023-02-07T18:49:24Z | - |
dc.date.issued | 2023 | - |
dc.identifier.citation | Bergen, D. J., Maurizi, A., Formosa, M. M., McDonald, G. L., El‐Gazzar, A., Hassan, N.,...Hendrickx, G. (2023). High bone mass disorders: new insights from connecting the clinic and the bench. Journal of Bone and Mineral Research, 38(2), 229-247. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/106102 | - |
dc.description.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. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Wiley-Blackwell Publishing, Inc. | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Therapeutics | en_GB |
dc.subject | Bones -- Diseases -- Genetic aspects | en_GB |
dc.subject | Genomics | en_GB |
dc.subject | Tissues | en_GB |
dc.title | High bone mass disorders : new insights from connecting the clinic and the bench | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The 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.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1002/jbmr.4715 | - |
dc.publication.title | Journal of Bone and Mineral Research | en_GB |
Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
File | Description | Size | Format | |
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High_bone_mass_disorders_new_insights_from_connecting_the_clinic_and_the_bench_2023.pdf | 1.33 MB | Adobe PDF | View/Open |
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