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143 results

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Page 1
CYP11B1 variants influence skeletal maturation via alternative splicing.
Grgic O, Gazzara MR, Chesi A, Medina-Gomez C, Cousminer DL, Mitchell JA, Prijatelj V, de Vries J, Shevroja E, McCormack SE, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Mahboubi S, Faucz FR, Feelders RA, de Jong FH, Uitterlinden AG, Visser JA, Ghanem LR, Wolvius EB, Hofland LJ, Stratakis CA, Zemel BS, Barash Y, Grant SFA, Rivadeneira F. Grgic O, et al. Commun Biol. 2021 Nov 9;4(1):1274. doi: 10.1038/s42003-021-02774-y. Commun Biol. 2021. PMID: 34754074 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. Nat Genet. 2012 Apr 15;44(5):491-501. doi: 10.1038/ng.2249. Nat Genet. 2012. PMID: 22504420 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. 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.
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.
Oei L, Hsu YH, Styrkarsdottir U, Eussen BH, de Klein A, Peters MJ, Halldorsson B, Liu CT, Alonso N, Kaptoge SK, Thorleifsson G, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Kruk M, Lewis JR, Patel MS, Scollen S, Svensson O, Trompet S, van Schoor NM, Zhu K, Buckley BM, Cooper C, Ford I, Goltzman D, González-Macías J, Langdahl BL, Leslie WD, Lips P, Lorenc RS, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Slagboom PE, Garcia-Ibarbia C, Ingvarsson T, Johannsdottir H, Luben R, Medina-Gómez C, Arp P, Nandakumar K, Palsson ST, Sigurdsson G, van Meurs JB, Zhou Y, Hofman A, Jukema JW, Pols HA, Prince RL, Cupples LA, Marshall CR, Pinto D, Sato D, Scherer SW, Reeve J, Thorsteinsdottir U, Karasik D, Richards JB, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP, Rivadeneira F, Estrada K. Oei L, et al. J Med Genet. 2014 Feb;51(2):122-31. doi: 10.1136/jmedgenet-2013-102064. Epub 2013 Dec 16. J Med Genet. 2014. PMID: 24343915
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. 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.
143 results