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PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Khaled ML, Bykhovskaya Y, Gu C, Liu A, Drewry MD, Chen Z, Mysona BA, Parker E, McNabb RP, Yu H, Lu X, Wang J, Li X, Al-Muammar A, Rotter JI, Porter LF, Estes A, Watsky MA, Smith SB, Xu H, Abu-Amero KK, Kuo A, Shears SB, Rabinowitz YS, Liu Y. Khaled ML, et al. Among authors: rotter ji. Sci Rep. 2019 Dec 18;9(1):19406. doi: 10.1038/s41598-019-55866-5. Sci Rep. 2019. PMID: 31852976 Free PMC article.
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: rotter ji. 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.
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: rotter ji. 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.
Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies.
Bykhovskaya Y, Li X, Epifantseva I, Haritunians T, Siscovick D, Aldave A, Szczotka-Flynn L, Iyengar SK, Taylor KD, Rotter JI, Rabinowitz YS. Bykhovskaya Y, et al. Among authors: rotter ji. Invest Ophthalmol Vis Sci. 2012 Jun 28;53(7):4152-7. doi: 10.1167/iovs.11-9268. Invest Ophthalmol Vis Sci. 2012. PMID: 22661479 Free PMC article. Review.
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. Among authors: rotter ji. Cornea. 2013 May;32(5):696-701. doi: 10.1097/ICO.0b013e3182821c1c. Cornea. 2013. PMID: 23449483 Free PMC article.
Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus.
Li X, Bykhovskaya Y, Canedo AL, Haritunians T, Siscovick D, Aldave AJ, Szczotka-Flynn L, Iyengar SK, Rotter JI, Taylor KD, Rabinowitz YS. Li X, et al. Among authors: rotter ji. Invest Ophthalmol Vis Sci. 2013 Apr 12;54(4):2696-704. doi: 10.1167/iovs.13-11601. Invest Ophthalmol Vis Sci. 2013. PMID: 23513063 Free PMC article.
1,194 results