Cemil Yunus ŞAHAN, Serhat SEVLİ, Nurullah ÇAĞIL, Nagihan UĞURLU

Lack of MIR143, MIR145, MIR184, MIR1224, and MIR29b1 mutations in keratoconus pathogenesis

___

1. Nowak DM, Gajecka M. The genetics of keratoconus. Middle East Afr J Ophthalmol 2011; 18: 2-6.
2. Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F et al. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Invest Ophthalmol Vis Sci 2005; 46: 39-45.
3. Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR et al. VSX1: A gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002; 11: 1029-1036.
4. Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K et al. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci 2009; 50: 1531-1539.
5. Brancati F, Valente EM, Sarkozy A, Fehér J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. A locus for autosomal dominant keratoconus maps to human chromosome 3p14q13. J Med Genet 2004; 41: 188-192.
6. Hutchings H, Ginisty H, Le Gallo M, Levy D, Stoësser F, Rouland JF, Arné JL, Lalaux MH, Calvas P, Roth MP et al. Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet 2005; 42: 88-94.
7. Yu X, Chen B, Zhang X, Shentu X. Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population. Mol Vis 2017; 23: 296-305.
8. Saravani R, Yari D, Saravani S, Hasanian-Langroudi F. Correlation between the COL4A3, MMP-9, and TIMP-1 polymorphisms and risk of keratoconus. Jpn J Ophthalmol 2017; 61: 218-222.
9. Bardak H, Gunay M, Yildiz E, Bardak Y, Gunay B, Ozbas H, Bagci O. Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus. Genet Mol Res 2016; 15: 15049024.
10. Karolak JA, Rydzanicz M, Ginter-Matuszewska B, Pitarque JA, Molinari A, Bejjani BA, Gajecka M. Variant c.2262A>C in DOCK9 leads to exon skipping in keratoconus family. Invest Ophthalmol Vis Sci 2015; 56: 7687-7690.
11. Kosker M, Arslan N, Alp MY, Ozisler C, Acar M, Dogan AS, Yesilyurt A, Gurdal C. Association between keratoconus and familial Mediterranean fever in Turkey. Cornea 2016; 35: 77-80.
12. Bhattacharya A, Ziebarth JD, Cui Y. Somami R. A database for somatic mutations impacting microRNA function in cancer. Nucleic Acid Res 2013; 41: 977-982.
13. Hughes AE, Bradley DT, Campbell M, Lechner J, Dash DP, Simpson DA, Willoughby CE. Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Am J Hum Genet 2011; 89: 1-6.
14. Iliff BW, Riazuddin SA, Gottsch JD. A single-base substitution in the seed region of miR-184 causes EDICT syndrome. Invest Ophthalmol Vis Sci 2012; 53: 348-353.
15. Bykhovskaya Y, Caiado Canedo AL, Wright KW, Rabinowitz YS. The C.57C>T mutation in MIR 184 is responsible for congenital cataracts and corneal abnormalities in a fivegeneration family from Galicia, Spain. Ophthalmic Genet 2015; 36: 244-247.
16. Nielsen K, Birkenkamp-Demtroder K, Ehlers N, Orntoft TF. Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. Invest Ophthalmol Vis Sci 2003; 44: 2466-2476.
17. Nielsen K, Vorum H, Fagerholm P, Birkenkamp-Demtrder K, Honor B, Ehlers N, Orntoft TF. Proteome profiling of corneal epithelium and identification of marker proteins for keratoconus, a pilot study. Exp Eye Res 2006; 82: 201-209.
18. Lee J, Oum BS, Choi HY, Lee SU, Lee JL. Evaluation of differentially expressed genes identified in keratoconus. Mol Vis 2009; 15: 2480-2487.
19. Mace M, Galiacy SD, Erraud A, Mejía J, Etchevers H, Allouche E, Desjardins L, Calvas P, Malecaze F. Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas. Invest Ophthalmol Vis Sci 2011; 52: 6181-6191.
20. Niu Y, Mo D, Qin L, Wang C, Li A, Zhao X, Wang X, Xiao S, Wang Q, Xie Y et al. Lipopolysaccharide-induced miR-1224 negatively regulates tumour necrosis factor-α gene expression by modulating Sp1. Immunology 2011; 133: 8-20.
21. Li N, Cui J, Duan X, Chen H, Fan F. Suppression of type I collagen expression by miR-29b via PI3K, Akt, and Sp1 pathway in human Tenons fibroblasts. Invest Ophthalmol Vis Sci 2012; 53: 1670-1678.
22. Bharaj BS, Angelopoulou K, Diamandis EP. Rapid sequencing of the p53 gene with a new automated DNA sequencer. Clin Chem 1998; 44: 1397-403.
23. Abu-Amero KK, Helwa I, Al-Muammar A, Strickland S, Hauser MA, Allingham RR, Liu Y. Screening of the seed region of MIR184 in keratoconus patients from Saudi Arabia. BioMed Research International 2015; 2015: 604508.