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A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.
Gregson CL, Bergen DJM, Leo P, Sessions RB, Wheeler L, Hartley A, Youlten S, Croucher PI, McInerney-Leo AM, Fraser W, Tang JC, Anderson L, Marshall M, Sergot L, Paternoster L, Davey Smith G; AOGC Consortium; Brown MA, Hammond C, Kemp JP, Tobias JH, Duncan EL. Gregson CL, et al. Among authors: bergen djm. J Bone Miner Res. 2020 Jan;35(1):92-105. doi: 10.1002/jbmr.3875. Epub 2019 Nov 14. J Bone Miner Res. 2020. PMID: 31525280 Free PMC article.
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.
Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg D, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W, Mäkitie O. Formosa MM, et al. Among authors: bergen djm. Front Endocrinol (Lausanne). 2021 Aug 13;12:709711. doi: 10.3389/fendo.2021.709711. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34539568 Free PMC article. Review.
Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques.
Rauner M, Foessl I, Formosa MM, Kague E, Prijatelj V, Lopez NA, Banerjee B, Bergen D, Busse B, Calado Â, Douni E, Gabet Y, Giralt NG, Grinberg D, Lovsin NM, Solan XN, Ostanek B, Pavlos NJ, Rivadeneira F, Soldatovic I, van de Peppel J, van der Eerden B, van Hul W, Balcells S, Marc J, Reppe S, Søe K, Karasik D. Rauner M, et al. Front Endocrinol (Lausanne). 2021 Nov 30;12:731217. doi: 10.3389/fendo.2021.731217. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34938269 Free PMC article. Review.
16 results