High Bone Mass Disorders: New Insights from Connecting the Clinic and the Bench
| العنوان: | High Bone Mass Disorders: New Insights from Connecting the Clinic and the Bench |
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| المؤلفون: | Dylan J.M. Bergen, Antonio Maurizi, Melissa M. Formosa, Georgina L.K. McDonald, Ahmed El‐Gazzar, Neelam Hassan, Maria‐Luisa Brandi, José A. Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L. Duncan, Celia L. Gregson, Douglas P. Kiel, M. Carola Zillikens, Luca Sangiorgi, Wolfgang Högler, Ivan Duran, Outi Mäkitie, Wim Van Hul, Gretl Hendrickx |
| المساهمون: | Universidad de Cantabria |
| المصدر: | Journal of bone and mineral research 26 September 2022 Journal of bone and mineral research Bergen, D J M, Maurizi, A, Formosa, M M, Mcdonald, G, El-Gazzar, A, Hassan, N, Brandi, M-L, Riancho, J A, Rivadeneira, F, Ntzani, E, Duncan, E L, Gregson, C L, Kiel, D P, Zillikens, M C, Sangiorgi, L, Högler, W, Duran, I, Mäkitie, O, van Hul, W & Hendrickx, G 2022, ' High Bone Mass Disorders : New Insights from Connecting the Clinic and the Bench ', Journal of Bone and Mineral Research . https://doi.org/10.1002/jbmr.4715 |
| بيانات النشر: | John Wiley & Sons, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | ANABOLICS, Endocrinology, Diabetes and Metabolism, CAUDAL FIN, GENETIC ANIMAL MODELS, ENZYME REPLACEMENT, Osteoclasts, Omics, Endocrinology & Metabolism, Rare Diseases/genetics, SDG 3 - Good Health and Well-being, OSTEOCYTES, Orthopedics and Sports Medicine, CELL, DYSPLASIA, Bone, PARACRINE PATHWAYS, IN-VIVO, Science & Technology, MUTATIONS, Osteoblast, Bones -- Diseases -- Genetic aspects, Genomics, RELATED TO BONE, TISSUE SIGNALING, SOST GENE, DEFICIENCY, Tissues, DISEASES AND DISORDERS OF, ANIMAL MODELS, AUTOSOMAL-DOMINANT OSTEOPETROSIS, THERAPEUTICS, Human medicine, Life Sciences & Biomedicine, STEM-CELLS, GENETIC RESEARCH |
| الوصف: | 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. peer-reviewed |
| وصف الملف: | Print-Electronic; application/pdf |
| اللغة: | English |
| تدمد: | 0884-0431 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f0fdd87325cab506c7c321f4bf0fbc https://hdl.handle.net/10902/27878 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....30f0fdd87325cab506c7c321f4bf0fbc |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 08840431 |
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