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An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance.
MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN. MacArthur DG, et al. Among authors: quinlan kg. Hum Mol Genet. 2008 Apr 15;17(8):1076-86. doi: 10.1093/hmg/ddm380. Epub 2008 Jan 4. Hum Mol Genet. 2008. PMID: 18178581
The effect of α-actinin-3 deficiency on muscle aging.
Seto JT, Chan S, Turner N, MacArthur DG, Raftery JM, Berman YD, Quinlan KG, Cooney GJ, Head S, Yang N, North KN. Seto JT, et al. Among authors: quinlan kg. Exp Gerontol. 2011 Apr;46(4):292-302. doi: 10.1016/j.exger.2010.11.006. Epub 2010 Nov 26. Exp Gerontol. 2011. PMID: 21112313
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse.
Yang N, Schindeler A, McDonald MM, Seto JT, Houweling PJ, Lek M, Hogarth M, Morse AR, Raftery JM, Balasuriya D, MacArthur DG, Berman Y, Quinlan KG, Eisman JA, Nguyen TV, Center JR, Prince RL, Wilson SG, Zhu K, Little DG, North KN. Yang N, et al. Among authors: quinlan kg. Bone. 2011 Oct;49(4):790-8. doi: 10.1016/j.bone.2011.07.009. Epub 2011 Jul 19. Bone. 2011. PMID: 21784188
NF1 is a critical regulator of muscle development and metabolism.
Sullivan K, El-Hoss J, Quinlan KG, Deo N, Garton F, Seto JT, Gdalevitch M, Turner N, Cooney GJ, Kolanczyk M, North KN, Little DG, Schindeler A. Sullivan K, et al. Among authors: quinlan kg. Hum Mol Genet. 2014 Mar 1;23(5):1250-9. doi: 10.1093/hmg/ddt515. Epub 2013 Oct 24. Hum Mol Genet. 2014. PMID: 24163128 Free PMC article.
60 results