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APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans.
Tkatchenko AV, Tkatchenko TV, Guggenheim JA, Verhoeven VJ, Hysi PG, Wojciechowski R, Singh PK, Kumar A, Thinakaran G; Consortium for Refractive Error and Myopia (CREAM); Williams C. Tkatchenko AV, et al. PLoS Genet. 2015 Aug 27;11(8):e1005432. doi: 10.1371/journal.pgen.1005432. eCollection 2015 Aug. PLoS Genet. 2015. PMID: 26313004 Free PMC article.
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel LJ, Cotch MF, Chew EY, Klein B, Klein R, Wong TY, Simpson CL, Klaver CC, van Duijn CM, Verhoeven VJ, Baird PN, Vitart V, Paterson AD, Mitchell P, Saw SM, Fossarello M, Kazmierkiewicz K, Murgia F, Portas L, Schache M, Richardson A, Xie J, Wang JJ, Rochtchina E; DCCT/EDIC Research Group; Viswanathan AC, Hayward C, Wright AF, Polasek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Hosseini SM, Döring A, Bettecken T, Vatavuk Z, Gieger C, Wichmann HE, Wilson JF, Fleck B, Foster PJ, Topouzis F, McGuffin P, Sim X, Inouye M, Holliday EG, Attia J, Scott RJ, Rotter JI, Meitinger T, Bailey-Wilson JE. Stambolian D, et al. Hum Mol Genet. 2013 Jul 1;22(13):2754-64. doi: 10.1093/hmg/ddt116. Epub 2013 Mar 7. Hum Mol Genet. 2013. PMID: 23474815 Free PMC article.