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Page 1
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.
Burdon KP, Macgregor S, Bykhovskaya Y, Javadiyan S, Li X, Laurie KJ, Muszynska D, Lindsay R, Lechner J, Haritunians T, Henders AK, Dash D, Siscovick D, Anand S, Aldave A, Coster DJ, Szczotka-Flynn L, Mills RA, Iyengar SK, Taylor KD, Phillips T, Montgomery GW, Rotter JI, Hewitt AW, Sharma S, Rabinowitz YS, Willoughby C, Craig JE. Burdon KP, et al. Among authors: aldave a. Invest Ophthalmol Vis Sci. 2011 Oct 31;52(11):8514-9. doi: 10.1167/iovs.11-8261. Invest Ophthalmol Vis Sci. 2011. PMID: 22003120 Free PMC article.
No VSX1 gene mutations associated with keratoconus.
Aldave AJ, Yellore VS, Salem AK, Yoo GL, Rayner SA, Yang H, Tang GY, Piconell Y, Rabinowitz YS. Aldave AJ, et al. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):2820-2. doi: 10.1167/iovs.05-1530. Invest Ophthalmol Vis Sci. 2006. PMID: 16799019
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.
Li X, Bykhovskaya Y, Haritunians T, Siscovick D, Aldave A, Szczotka-Flynn L, Iyengar SK, Rotter JI, Taylor KD, Rabinowitz YS. Li X, et al. Among authors: aldave a. Hum Mol Genet. 2012 Jan 15;21(2):421-9. doi: 10.1093/hmg/ddr460. Epub 2011 Oct 6. Hum Mol Genet. 2012. PMID: 21979947 Free PMC article.
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA; Consortium for Refractive Error and Myopia (CREAM); Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group; Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W; Wellcome Trust Case Control Consortium 2 (WTCCC2); Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Igo RP Jr, Lass JH, Chew E, Iyengar SK; Fuchs' Genetics Multi-Center Study Group; Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG… See abstract for full author list ➔ Verhoeven VJ, et al. Nat Genet. 2013 Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10. Nat Genet. 2013. PMID: 23396134 Free PMC article.
An association between the calpastatin (CAST) gene and keratoconus.
Li X, Bykhovskaya Y, Tang YG, Picornell Y, Haritunians T, Aldave AJ, Szczotka-Flynn L, Iyengar SK, Rotter JI, Taylor KD, Rabinowitz YS. Li X, et al. Cornea. 2013 May;32(5):696-701. doi: 10.1097/ICO.0b013e3182821c1c. Cornea. 2013. PMID: 23449483 Free PMC article.
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M; Consortium for Refractive Error and Myopia; Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr; Fuchs' Genetics Multi-Center Study Group; Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ; Wellcome Trust Case Control Consortium 2; Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group; Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan … See abstract for full author list ➔ Cheng CY, et al. Am J Hum Genet. 2013 Aug 8;93(2):264-77. doi: 10.1016/j.ajhg.2013.06.016. Am J Hum Genet. 2013. PMID: 24144296 Free PMC article.
Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.
Afshari NA, Igo RP Jr, Morris NJ, Stambolian D, Sharma S, Pulagam VL, Dunn S, Stamler JF, Truitt BJ, Rimmler J, Kuot A, Croasdale CR, Qin X, Burdon KP, Riazuddin SA, Mills R, Klebe S, Minear MA, Zhao J, Balajonda E, Rosenwasser GO, Baratz KH, Mootha VV, Patel SV, Gregory SG, Bailey-Wilson JE, Price MO, Price FW Jr, Craig JE, Fingert JH, Gottsch JD, Aldave AJ, Klintworth GK, Lass JH, Li YJ, Iyengar SK. Afshari NA, et al. Among authors: aldave aj. Nat Commun. 2017 Mar 30;8:14898. doi: 10.1038/ncomms14898. Nat Commun. 2017. PMID: 28358029 Free PMC article.
219 results