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High Bone Mass Disorders: New Insights from Connecting the Clinic and the Bench
Dylan J.M. Bergen PhD,Antonio Maurizi PhD,Melissa M. Formosa PhD,Georgina L.K. McDonald MSc,Ahmed El-Gazzar PhD,Neelam Hassan MD PhD,Maria-Luisa Brandi MD PhD,José A. Riancho MD PhD,Fernando Rivadeneira MD PhD,Evangelia Ntzani MD PhD,Emma...
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Zoledronic Acid Is Not Equally Potent on Osteoclasts Generated From Different Individuals
Anaïs M J Møller, Jean-Marie Delaisse, Jacob B Olesen, Troels Bechmann, Jonna S Madsen, Kent Søe First published: 15 September 2020DOI: https://doi.org/10.1002/jbm4.10412 Zoledronic acid is a bisphosphonate commonly used to treat...
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Deletion of SREBF1, a Functional Bone-Muscle Pleiotropic Gene, Alters Bone Density and Lipid Signaling in Zebrafish
Chen Shochat, Zhiying Wang, Chenglin Mo, Sarah Nelson, Rajashekar Donaka, Jian Huang, David Karasik, Marco BrottoEndocrinology, Volume 162, Issue 1, January 2021, bqaa189, https://doi.org/10.1210/endocr/bqaa189Published: 17 October 2020 Through a genome-wide analysis of bone mineral density (BMD) and muscle mass,...
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Functional Validation of Osteoporosis Genetic Findings Using Small Fish Models
Erika Kague 1, David Karasik 2,*
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Regenerating zebrafish scales express a subset of evolutionary conserved genes involved in human skeletal disease
Bergen et al, 21 January 2022
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Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques
Martina Rauner et al, 30 November 2021 
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Bone phenotyping approaches in human, mice and zebrafish – expert overview of the EU Cost Action GEMSTONE (“Genomics of MusculoSkeletal traits Translational Network”)
Ines Foessl et al, Nov. 2021
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The "GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork": Origins, Rationale, Organization, and Prospects
Koromani F et al., Front. Endocrinol., 16 August 2021
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A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
Formosa M et al. Front. Endocrinol., 13 August 2021
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COST Action CA18139

The musculoskeletal system is a key element for healthy aging, being mobility a fundamental component of quality of life, health, and independence of aging individuals. The unprecedented amount of discoveries arising from  genome-wide association studies (GWAS) have set a new era full of translational potential in the field of musculoskeletal biology.

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