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New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, Workalemahu T, Wu JMW, Buchkovich ML, Heard-Costa NL, Roman TS, Drong AW, Song C, Gustafsson S, Day FR, Esko T, Fall T, Kutalik Z, Luan J, Randall JC, Scherag A, Vedantam S, Wood AR, Chen J, Fehrmann R, Karjalainen J, Kahali B, Liu CT, Schmidt EM, Absher D, Amin N, Anderson D, Beekman M, Bragg-Gresham JL, Buyske S, Demirkan A, Ehret GB, Feitosa MF, Goel A, Jackson AU, Johnson T, Kleber ME, Kristiansson K, Mangino M, Leach IM, Medina-Gomez C, Palmer CD, Pasko D, Pechlivanis S, Peters MJ, Prokopenko I, Stančáková A, Sung YJ, Tanaka T, Teumer A, Van Vliet-Ostaptchouk JV, Yengo L, Zhang W, Albrecht E, Ärnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Böhringer S, Bonnet F, Böttcher Y, Bruinenberg M, Carba DB, Caspersen IH, Clarke R, Daw EW, Deelen J, Deelman E, Delgado G, Doney AS, Eklund N, Erdos MR, Estrada K, Eury E, Friedrich N, Garcia ME, Giedraitis V, Gigante B, Go AS, Golay A, Grallert H, Grammer TB, Gräßler J, Grewal J, Groves CJ, Haller T, Hallmans G, Hartman CA, Hassinen M, Hayward C, Heikkilä K, Herzig KH, Helmer Q, Hi… See abstract for full author list ➔ Shungin D, et al. Nature. 2015 Feb 12;518(7538):187-196. doi: 10.1038/nature14132. Nature. 2015. PMID: 25673412 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: clark gr. 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.
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA. Zankl A, et al. Among authors: clark gr. Am J Hum Genet. 2012 Mar 9;90(3):494-501. doi: 10.1016/j.ajhg.2012.01.003. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387013 Free PMC article.
Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes.
Gregson CL, Newell F, Leo PJ, Clark GR, Paternoster L, Marshall M, Forgetta V, Morris JA, Ge B, Bao X, Duncan Bassett JH, Williams GR, Youlten SE, Croucher PI, Davey Smith G, Evans DM, Kemp JP, Brown MA, Tobias JH, Duncan EL. Gregson CL, et al. Among authors: clark gr. Bone. 2018 Sep;114:62-71. doi: 10.1016/j.bone.2018.06.001. Epub 2018 Jun 5. Bone. 2018. PMID: 29883787 Free PMC article.
105 results