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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.
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. Among authors: rivadeneira f. 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.
Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis.
van Meurs JB, Trikalinos TA, Ralston SH, Balcells S, Brandi ML, Brixen K, Kiel DP, Langdahl BL, Lips P, Ljunggren O, Lorenc R, Obermayer-Pietsch B, Ohlsson C, Pettersson U, Reid DM, Rousseau F, Scollen S, Van Hul W, Agueda L, Akesson K, Benevolenskaya LI, Ferrari SL, Hallmans G, Hofman A, Husted LB, Kruk M, Kaptoge S, Karasik D, Karlsson MK, Lorentzon M, Masi L, McGuigan FE, Mellström D, Mosekilde L, Nogues X, Pols HA, Reeve J, Renner W, Rivadeneira F, van Schoor NM, Weber K, Ioannidis JP, Uitterlinden AG; GENOMOS Study. van Meurs JB, et al. Among authors: rivadeneira f. JAMA. 2008 Mar 19;299(11):1277-90. doi: 10.1001/jama.299.11.1277. JAMA. 2008. PMID: 18349089 Free PMC article.
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
Rivadeneira F, Styrkársdottir U, Estrada K, Halldórsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Grundberg E, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra B, Pastinen T, Pols HA, Sigurdsson G, Soranzo N, Thorleifsson G, Thorsteinsdottir U, Williams FM, Wilson SG, Zhou Y, Ralston SH, van Duijn CM, Spector T, Kiel DP, Stefansson K, Ioannidis JP, Uitterlinden AG; Genetic Factors for Osteoporosis (GEFOS) Consortium. Rivadeneira F, et al. Nat Genet. 2009 Nov;41(11):1199-206. doi: 10.1038/ng.446. Epub 2009 Oct 4. Nat Genet. 2009. PMID: 19801982 Free PMC article.
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
Hsu YH, Zillikens MC, Wilson SG, Farber CR, Demissie S, Soranzo N, Bianchi EN, Grundberg E, Liang L, Richards JB, Estrada K, Zhou Y, van Nas A, Moffatt MF, Zhai G, Hofman A, van Meurs JB, Pols HA, Price RI, Nilsson O, Pastinen T, Cupples LA, Lusis AJ, Schadt EE, Ferrari S, Uitterlinden AG, Rivadeneira F, Spector TD, Karasik D, Kiel DP. Hsu YH, et al. Among authors: rivadeneira f. PLoS Genet. 2010 Jun 10;6(6):e1000977. doi: 10.1371/journal.pgen.1000977. PLoS Genet. 2010. PMID: 20548944 Free PMC article.
Large common deletions associate with mortality at old age.
Kuningas M, Estrada K, Hsu YH, Nandakumar K, Uitterlinden AG, Lunetta KL, van Duijn CM, Karasik D, Hofman A, Murabito J, Rivadeneira F, Kiel DP, Tiemeier H. Kuningas M, et al. Among authors: rivadeneira f. Hum Mol Genet. 2011 Nov 1;20(21):4290-6. doi: 10.1093/hmg/ddr340. Epub 2011 Aug 11. Hum Mol Genet. 2011. PMID: 21835882 Free PMC article.
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM, Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM, Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V, Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, Duggan DJ, Garcia M, Garcia-Giralt N, Giroux S, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Khusainova R, Kim GS, Kooperberg C, Koromila T, Kruk M, Laaksonen M, Lacroix AZ, Lee SH, Leung PC, Lewis JR, Masi L, Mencej-Bedrac S, Nguyen TV, Nogues X, Patel MS, Prezelj J, Rose LM, Scollen S, Siggeirsdottir K, Smith AV, Svensson O, Trompet S, Trummer O, van Schoor NM, Woo J, Zhu K, Balcells S, Brandi ML, Buckley BM, Cheng S, Christiansen C, Cooper C, Dedoussis G, Ford I, Frost M, Goltzman D, González-Macías J, Kähönen M, Karlsson M, Khusnutdinova E, Koh JM, Kollia P, Langdahl BL, Leslie WD, Lips P, Ljunggren Ö, Lorenc RS, Marc J, Mellström D, Obermayer-Pietsch B, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Ridker PM, Rousseau F, Slagboom PE, Tang NL, Urreizti R, Van Hul W, Viikari J, Zarrabeitia MT, Aulch… See abstract for full author list ➔ Estrada K, et al. Among authors: rivadeneira f. Nat Genet. 2012 Apr 15;44(5):491-501. doi: 10.1038/ng.2249. Nat Genet. 2012. PMID: 22504420 Free PMC article.
Assessment of gene-by-sex interaction effect on bone mineral density.
Liu CT, Estrada K, Yerges-Armstrong LM, Amin N, Evangelou E, Li G, Minster RL, Carless MA, Kammerer CM, Oei L, Zhou Y, Alonso N, Dailiana Z, Eriksson J, García-Giralt N, Giroux S, Husted LB, Khusainova RI, Koromila T, Kung AW, Lewis JR, Masi L, Mencej-Bedrac S, Nogues X, Patel MS, Prezelj J, Richards JB, Sham PC, Spector T, Vandenput L, Xiao SM, Zheng HF, Zhu K, Balcells S, Brandi ML, Frost M, Goltzman D, González-Macías J, Karlsson M, Khusnutdinova EK, Kollia P, Langdahl BL, Ljunggren O, Lorentzon M, Marc J, Mellström D, Ohlsson C, Olmos JM, Ralston SH, Riancho JA, Rousseau F, Urreizti R, Van Hul W, Zarrabeitia MT, Castano-Betancourt M, Demissie S, Grundberg E, Herrera L, Kwan T, Medina-Gómez C, Pastinen T, Sigurdsson G, Thorleifsson G, Vanmeurs JB, Blangero J, Hofman A, Liu Y, Mitchell BD, O'Connell JR, Oostra BA, Rotter JI, Stefansson K, Streeten EA, Styrkarsdottir U, Thorsteinsdottir U, Tylavsky FA, Uitterlinden A, Cauley JA, Harris TB, Ioannidis JP, Psaty BM, Robbins JA, Zillikens MC, Vanduijn CM, Prince RL, Karasik D, Rivadeneira F, Kiel DP, Cupples LA, Hsu YH. Liu CT, et al. Among authors: rivadeneira f. J Bone Miner Res. 2012 Oct;27(10):2051-64. doi: 10.1002/jbmr.1679. J Bone Miner Res. 2012. PMID: 22692763 Free PMC article.
Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.
Medina-Gomez C, Kemp JP, Estrada K, Eriksson J, Liu J, Reppe S, Evans DM, Heppe DH, Vandenput L, Herrera L, Ring SM, Kruithof CJ, Timpson NJ, Zillikens MC, Olstad OK, Zheng HF, Richards JB, St Pourcain B, Hofman A, Jaddoe VW, Smith GD, Lorentzon M, Gautvik KM, Uitterlinden AG, Brommage R, Ohlsson C, Tobias JH, Rivadeneira F. Medina-Gomez C, et al. Among authors: rivadeneira f. PLoS Genet. 2012 Jul;8(7):e1002718. doi: 10.1371/journal.pgen.1002718. Epub 2012 Jul 5. PLoS Genet. 2012. PMID: 22792070 Free PMC article.
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
Kemp JP, Medina-Gomez C, Estrada K, St Pourcain B, Heppe DH, Warrington NM, Oei L, Ring SM, Kruithof CJ, Timpson NJ, Wolber LE, Reppe S, Gautvik K, Grundberg E, Ge B, van der Eerden B, van de Peppel J, Hibbs MA, Ackert-Bicknell CL, Choi K, Koller DL, Econs MJ, Williams FM, Foroud T, Zillikens MC, Ohlsson C, Hofman A, Uitterlinden AG, Davey Smith G, Jaddoe VW, Tobias JH, Rivadeneira F, Evans DM. Kemp JP, et al. Among authors: rivadeneira f. PLoS Genet. 2014 Jun 19;10(6):e1004423. doi: 10.1371/journal.pgen.1004423. eCollection 2014 Jun. PLoS Genet. 2014. PMID: 24945404 Free PMC article.
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