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 Detalle_Publicacion

High Bone Mass Disorders: New Insights from Connecting the Clinic and the Bench

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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Autoría: Bergen D.J.M., Maurizi A., Formosa M.M., McDonald G.L.K., 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.,

 Fuente: Journal of bone and mineral research 26 September 2022

Editorial: John Wiley & Sons

 Fecha de publicación: 01/09/2022

Nº de páginas: 44

Tipo de publicación: Artículo de Revista

 DOI: 10.1002/jbmr.4715

ISSN: 0884-0431,1523-4681

Url de la publicación: https://doi.org/10.1002/jbmr.4715

Autoría

BERGEN, DYLAN J. M.

MAURIZI, ANTONIO

FORMOSA, MELISSA M.

MCDONALD, GEORGINA L. K.

EL-GAZZAR, AHMED

HASSAN, NEELAM

BRANDI, MARIA-LUISA

RIVADENEIRA, FERNANDO

NTZANI, EVANGELIA

DUNCAN, EMMA L.

GREGSON, CELIA L.

KIEL, DOUGLAS P.

ZILLIKENS, M. CAROLA

SANGIORGI, LUCA

HÖGLER, WOLFGANG

DURAN, IVAN

MÄKITIE, OUTI

VAN HUL, WIM

HENDRICKS, GRETL