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Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ. Dinour D, et al. Among authors: shu x. Nephrol Dial Transplant. 2012 Mar;27(3):1035-41. doi: 10.1093/ndt/gfr419. Epub 2011 Aug 2. Nephrol Dial Transplant. 2012. PMID: 21810765
Homozygous SLC2A9 mutations cause severe renal hypouricemia.
Dinour D, Gray NK, Campbell S, Shu X, Sawyer L, Richardson W, Rechavi G, Amariglio N, Ganon L, Sela BA, Bahat H, Goldman M, Weissgarten J, Millar MR, Wright AF, Holtzman EJ. Dinour D, et al. Among authors: shu x. J Am Soc Nephrol. 2010 Jan;21(1):64-72. doi: 10.1681/ASN.2009040406. Epub 2009 Nov 19. J Am Soc Nephrol. 2010. PMID: 19926891 Free PMC article.
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
Vitart V, Rudan I, Hayward C, Gray NK, Floyd J, Palmer CN, Knott SA, Kolcic I, Polasek O, Graessler J, Wilson JF, Marinaki A, Riches PL, Shu X, Janicijevic B, Smolej-Narancic N, Gorgoni B, Morgan J, Campbell S, Biloglav Z, Barac-Lauc L, Pericic M, Klaric IM, Zgaga L, Skaric-Juric T, Wild SH, Richardson WA, Hohenstein P, Kimber CH, Tenesa A, Donnelly LA, Fairbanks LD, Aringer M, McKeigue PM, Ralston SH, Morris AD, Rudan P, Hastie ND, Campbell H, Wright AF. Vitart V, et al. Among authors: shu x. Nat Genet. 2008 Apr;40(4):437-42. doi: 10.1038/ng.106. Epub 2008 Mar 9. Nat Genet. 2008. PMID: 18327257
Focus on Molecules: RPGR.
Wright AF, Shu X. Wright AF, et al. Among authors: shu x. Exp Eye Res. 2007 Jul;85(1):1-2. doi: 10.1016/j.exer.2006.03.006. Epub 2006 Jun 12. Exp Eye Res. 2007. PMID: 16769054 Review. No abstract available.
RPGR mutation analysis and disease: an update.
Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF. Shu X, et al. Hum Mutat. 2007 Apr;28(4):322-8. doi: 10.1002/humu.20461. Hum Mutat. 2007. PMID: 17195164
Functional characterization of the human RPGR proximal promoter.
Shu X, Simpson JR, Hart AW, Zeng Z, Patnaik SR, Gautier P, Murdoch E, Tulloch B, Wright AF. Shu X, et al. Invest Ophthalmol Vis Sci. 2012 Jun 26;53(7):3951-8. doi: 10.1167/iovs.11-8811. Invest Ophthalmol Vis Sci. 2012. PMID: 22577079
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF. Hayward C, et al. Among authors: shu x. Hum Mol Genet. 2003 Oct 15;12(20):2657-67. doi: 10.1093/hmg/ddg289. Epub 2003 Aug 27. Hum Mol Genet. 2003. PMID: 12944416
3,525 results