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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: bykhovskaya y. Sci Rep. 2019 Dec 18;9(1):19406. doi: 10.1038/s41598-019-55866-5. Sci Rep. 2019. PMID: 31852976 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 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.
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.
Genetics in Keratoconus: where are we?
Bykhovskaya Y, Margines B, Rabinowitz YS. Bykhovskaya Y, et al. Eye Vis (Lond). 2016 Jun 27;3:16. doi: 10.1186/s40662-016-0047-5. eCollection 2016. Eye Vis (Lond). 2016. PMID: 27350955 Free PMC article. Review.
TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.
Bykhovskaya Y, Fardaei M, Khaled ML, Nejabat M, Salouti R, Dastsooz H, Liu Y, Inaloo S, Rabinowitz YS. Bykhovskaya Y, et al. Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6462-6469. doi: 10.1167/iovs.17-22819. Invest Ophthalmol Vis Sci. 2017. PMID: 29261847 Free PMC article.
Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas.
Khaled ML, Bykhovskaya Y, Yablonski SER, Li H, Drewry MD, Aboobakar IF, Estes A, Gao XR, Stamer WD, Xu H, Allingham RR, Hauser MA, Rabinowitz YS, Liu Y. Khaled ML, et al. Among authors: bykhovskaya y. Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):2717-2728. doi: 10.1167/iovs.18-24267. Invest Ophthalmol Vis Sci. 2018. PMID: 29860458 Free PMC article.
44 results