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Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone.
Phillips J, Subedi D, Lewis SC, Keerie C, Cronin O, Porteous M, Moore D, Cetnarskyj R, Ranganath L, Selby PL, Turgut T, Hampson G, Chandra R, Ho S, Tobias J, Young-Min S, McKenna MJ, Crowley RK, Fraser WD, Tang JCY, Gennari L, Nuti R, Brandi ML, Del Pino-Montes J, Devogelaer JP, Durnez A, Isaia GC, Di Stefano M, Guanabens N, Blanch Rubio J, Seibel MJ, Walsh JP, Rea SL, Kotowicz MA, Nicholson GC, Duncan EL, Major G, Horne A, Gilchrist N, Ralston SH. Phillips J, et al. Among authors: duncan el. Ann Rheum Dis. 2024 Mar 12;83(4):529-536. doi: 10.1136/ard-2023-224990. Ann Rheum Dis. 2024. PMID: 38123339 Free PMC article. Clinical Trial.
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
Duncan EL, Danoy P, Kemp JP, Leo PJ, McCloskey E, Nicholson GC, Eastell R, Prince RL, Eisman JA, Jones G, Sambrook PN, Reid IR, Dennison EM, Wark J, Richards JB, Uitterlinden AG, Spector TD, Esapa C, Cox RD, Brown SD, Thakker RV, Addison KA, Bradbury LA, Center JR, Cooper C, Cremin C, Estrada K, Felsenberg D, Glüer CC, Hadler J, Henry MJ, Hofman A, Kotowicz MA, Makovey J, Nguyen SC, Nguyen TV, Pasco JA, Pryce K, Reid DM, Rivadeneira F, Roux C, Stefansson K, Styrkarsdottir U, Thorleifsson G, Tichawangana R, Evans DM, Brown MA. Duncan EL, et al. PLoS Genet. 2011 Apr;7(4):e1001372. doi: 10.1371/journal.pgen.1001372. Epub 2011 Apr 21. PLoS Genet. 2011. PMID: 21533022 Free PMC article.
Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases.
Gregson CL, Wheeler L, Hardcastle SA, Appleton LH, Addison KA, Brugmans M, Clark GR, Ward KA, Paggiosi M, Stone M, Thomas J, Agarwal R, Poole KE, McCloskey E, Fraser WD, Williams E, Bullock AN, Davey Smith G, Brown MA, Tobias JH, Duncan EL. Gregson CL, et al. Among authors: duncan el. J Bone Miner Res. 2016 Mar;31(3):640-9. doi: 10.1002/jbmr.2706. Epub 2015 Oct 6. J Bone Miner Res. 2016. PMID: 26348019 Free PMC article.
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.
Alonso N, Estrada K, Albagha OME, Herrera L, Reppe S, Olstad OK, Gautvik KM, Ryan NM, Evans KL, Nielson CM, Hsu YH, Kiel DP, Markozannes G, Ntzani EE, Evangelou E, Feenstra B, Liu X, Melbye M, Masi L, Brandi ML, Riches P, Daroszewska A, Olmos JM, Valero C, Castillo J, Riancho JA, Husted LB, Langdahl BL, Brown MA, Duncan EL, Kaptoge S, Khaw KT, Usategui-Martín R, Del Pino-Montes J, González-Sarmiento R, Lewis JR, Prince RL, D'Amelio P, García-Giralt N, Nogués X, Mencej-Bedrac S, Marc J, Wolstein O, Eisman JA, Oei L, Medina-Gómez C, Schraut KE, Navarro P, Wilson JF, Davies G, Starr J, Deary I, Tanaka T, Ferrucci L, Gianfrancesco F, Gennari L, Lucas G, Elosua R, Uitterlinden AG, Rivadeneira F, Ralston SH. Alonso N, et al. Among authors: duncan el. Ann Rheum Dis. 2018 Mar;77(3):378-385. doi: 10.1136/annrheumdis-2017-212469. Epub 2017 Nov 23. Ann Rheum Dis. 2018. PMID: 29170203 Free PMC article.
Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone.
Cronin O, Forsyth L, Goodman K, Lewis SC, Keerie C, Walker A, Porteous M, Cetnarskyj R, Ranganath LR, Selby PL, Hampson G, Chandra R, Ho S, Tobias JH, Young-Min S, McKenna MJ, Crowley RK, Fraser WD, Gennari L, Nuti R, Brandi ML, Del Pino-Montes J, Devogelaer JP, Durnez A, Isaia G, Di Stefano M, Guañabens N, Blanch J, Seibel MJ, Walsh JP, Kotowicz MA, Nicholson GC, Duncan EL, Major G, Horne A, Gilchrist NL, Boers M, Murray GD, Charnock K, Wilkinson D, Russell RGG, Ralston SH. Cronin O, et al. Among authors: duncan el. BMJ Open. 2019 Sep 4;9(9):e030689. doi: 10.1136/bmjopen-2019-030689. BMJ Open. 2019. PMID: 31488492 Free PMC article.
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: duncan el. 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.
Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.
Cronin O, Subedi D, Forsyth L, Goodman K, Lewis SC, Keerie C, Walker A, Porteous M, Cetnarskyj R, Ranganath LR, Selby PL, Hampson G, Chandra R, Ho S, Tobias JH, Young-Min SA, McKenna MJ, Crowley RK, Fraser WD, Tang J, Gennari L, Nuti R, Brandi ML, Del Pino-Montes J, Devogelaer JP, Durnez A, Isaia GC, Di Stefano M, Rubio JB, Guanabens N, Seibel MJ, Walsh JP, Kotowicz MA, Nicholson GC, Duncan EL, Major G, Horne A, Gilchrist NL, Ralston SH. Cronin O, et al. Among authors: duncan el. J Bone Miner Res. 2020 Jul;35(7):1246-1252. doi: 10.1002/jbmr.4007. Epub 2020 Apr 20. J Bone Miner Res. 2020. PMID: 32176830 Free article.
171 results