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Page 1
Association of Genetic Variation With Keratoconus.
McComish BJ, Sahebjada S, Bykhovskaya Y, Willoughby CE, Richardson AJ, Tenen A, Charlesworth JC, MacGregor S, Mitchell P, Lucas SEM, Mills RA, Mackey DA, Li X, Wang JJ, Jensen RA, Rotter JI, Taylor KD, Hewitt AW, Rabinowitz YS, Baird PN, Craig JE, Burdon KP. McComish BJ, et al. Among authors: bykhovskaya y. JAMA Ophthalmol. 2020 Feb 1;138(2):174-181. doi: 10.1001/jamaophthalmol.2019.5293. JAMA Ophthalmol. 2020. PMID: 31855235 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: bykhovskaya y. 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: bykhovskaya y. 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.
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: bykhovskaya y. 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: bykhovskaya y. 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.
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD; Blue Mountains Eye Study—GWAS group; Bonnemaijer P, Rotter JI, Martin NG, Zeller T, Mills RA, Souzeau E, Staffieri SE, Jonas JB, Schmidtmann I, Boutin T, Kang JH, Lucas SEM, Wong TY, Beutel ME, Wilson JF; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2); Uitterlinden AG, Vithana EN, Foster PJ, Hysi PG, Hewitt AW, Khor CC, Pasquale LR, Montgomery GW, Klaver CCW, Aung T, Pfeiffer N, Mackey DA, Hammond CJ, Cheng CY, Craig JE, Rabinowitz YS, Wiggs JL, Burdon KP, van Duijn CM, MacGregor S. Iglesias AI, et al. Among authors: bykhovskaya y. Nat Commun. 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6. Nat Commun. 2018. PMID: 29760442 Free PMC article.
Update on the genetics of keratoconus.
Bykhovskaya Y, Rabinowitz YS. Bykhovskaya Y, et al. Exp Eye Res. 2021 Jan;202:108398. doi: 10.1016/j.exer.2020.108398. Epub 2020 Dec 13. Exp Eye Res. 2021. PMID: 33316263
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Hardcastle AJ, Liskova P, Bykhovskaya Y, McComish BJ, Davidson AE, Inglehearn CF, Li X, Choquet H, Habeeb M, Lucas SEM, Sahebjada S, Pontikos N, Lopez KER, Khawaja AP, Ali M, Dudakova L, Skalicka P, Van Dooren BTH, Geerards AJM, Haudum CW, Faro VL, Tenen A, Simcoe MJ, Patasova K, Yarrand D, Yin J, Siddiqui S, Rice A, Farraj LA, Chen YI, Rahi JS, Krauss RM, Theusch E, Charlesworth JC, Szczotka-Flynn L, Toomes C, Meester-Smoor MA, Richardson AJ, Mitchell PA, Taylor KD, Melles RB, Aldave AJ, Mills RA, Cao K, Chan E, Daniell MD, Wang JJ, Rotter JI, Hewitt AW, MacGregor S, Klaver CCW, Ramdas WD, Craig JE, Iyengar SK, O'Brart D, Jorgenson E, Baird PN, Rabinowitz YS, Burdon KP, Hammond CJ, Tuft SJ, Hysi PG. Hardcastle AJ, et al. Among authors: bykhovskaya y. Commun Biol. 2021 Mar 1;4(1):266. doi: 10.1038/s42003-021-01784-0. Commun Biol. 2021. PMID: 33649486 Free PMC article.
44 results