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Volumn 96, Issue 2, 2013, Pages 146-154

Insights into keratoconus from a genetic perspective

Author keywords

Cornea; Genetics; Keratoconus

Indexed keywords

COLLAGEN; DOCK9 PROTEIN, HUMAN; EYE PROTEIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HOMEODOMAIN PROTEIN; MICRORNA; MIRN184 MICRORNA, HUMAN; TRANSCRIPTION FACTOR; VSX1 PROTEIN, HUMAN; ZEB1 PROTEIN, HUMAN;

EID: 84877921331     PISSN: 08164622     EISSN: 14440938     Source Type: Journal    
DOI: 10.1111/cxo.12024     Document Type: Review
Times cited : (88)

References (98)
  • 1
    • 0025987576 scopus 로고
    • Posterior keratoconus due to iron nail injury-a case report
    • Bareja U, Vajpayee RB. Posterior keratoconus due to iron nail injury-a case report. Indian J Ophthalmol 1991; 39: 30.
    • (1991) Indian J Ophthalmol , vol.39 , pp. 30
    • Bareja, U.1    Vajpayee, R.B.2
  • 4
    • 0025363515 scopus 로고
    • Computer-assisted corneal topography in family members of patients with keratoconus
    • Rabinowitz YS, Garbus J, McDonnell PJ. Computer-assisted corneal topography in family members of patients with keratoconus. Arch Ophthalmol 1990; 108: 365-371.
    • (1990) Arch Ophthalmol , vol.108 , pp. 365-371
    • Rabinowitz, Y.S.1    Garbus, J.2    McDonnell, P.J.3
  • 5
    • 0034766080 scopus 로고    scopus 로고
    • Microstructural assessment of rare corneal dystrophies using real time in vivo confocal microscopy
    • Grupcheva CN, Malik TY, Craig JP, Sherwin T, McGhee CN. Microstructural assessment of rare corneal dystrophies using real time in vivo confocal microscopy. Clin Experiment Ophthalmol 2001; 29: 281-285.
    • (2001) Clin Experiment Ophthalmol , vol.29 , pp. 281-285
    • Grupcheva, C.N.1    Malik, T.Y.2    Craig, J.P.3    Sherwin, T.4    McGhee, C.N.5
  • 6
    • 79960587046 scopus 로고    scopus 로고
    • Computerized corneal tomography and associated features in a large New Zealand keratoconic population
    • Jordan CA, Zamri A, Wheeldon C, Patel DV, Johnson R, McGhee CN. Computerized corneal tomography and associated features in a large New Zealand keratoconic population. J Cataract Refract Surg 2011; 37: 1493-1501.
    • (2011) J Cataract Refract Surg , vol.37 , pp. 1493-1501
    • Jordan, C.A.1    Zamri, A.2    Wheeldon, C.3    Patel, D.V.4    Johnson, R.5    McGhee, C.N.6
  • 8
    • 0030042290 scopus 로고    scopus 로고
    • Insler MS. Keratoconus in two pairs of identical twins
    • Bechara SJ, Waring GO, 3rd, Insler MS. Keratoconus in two pairs of identical twins. Cornea 1996; 15: 90-93.
    • (1996) Cornea , vol.15 , pp. 90-93
    • Bechara, S.J.1    Waring 3rd, G.O.2
  • 9
    • 0014394643 scopus 로고
    • The role of heredity in keratoconus
    • Redmond KB. The role of heredity in keratoconus. Trans Ophthalmol Soc Aust 1968; 27: 52-54.
    • (1968) Trans Ophthalmol Soc Aust , vol.27 , pp. 52-54
    • Redmond, K.B.1
  • 10
    • 0034726692 scopus 로고    scopus 로고
    • Genetic epidemiological study of keratoconus: evidence for major gene determination
    • Wang Y, Rabinowitz YS, Rotter JI, Yang H. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet 2000; 93: 403-409.
    • (2000) Am J Med Genet , vol.93 , pp. 403-409
    • Wang, Y.1    Rabinowitz, Y.S.2    Rotter, J.I.3    Yang, H.4
  • 11
    • 0022577146 scopus 로고
    • A 48-year clinical and epidemiologic study of keratoconus
    • Kennedy RH, Bourne WM, Dyer JA. A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol 1986; 101: 267-273.
    • (1986) Am J Ophthalmol , vol.101 , pp. 267-273
    • Kennedy, R.H.1    Bourne, W.M.2    Dyer, J.A.3
  • 14
    • 0036590069 scopus 로고    scopus 로고
    • Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia
    • Fullerton J, Paprocki P, Foote S, Mackey DA, Williamson R, Forrest S. Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia. Hum Genet 2002; 110: 462-470.
    • (2002) Hum Genet , vol.110 , pp. 462-470
    • Fullerton, J.1    Paprocki, P.2    Foote, S.3    Mackey, D.A.4    Williamson, R.5    Forrest, S.6
  • 15
    • 0022509824 scopus 로고
    • Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease
    • Ihalainen A. Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease. Acta Ophthalmol 1986; Suppl 178: 1-64.
    • (1986) Acta Ophthalmol , Issue.SUPPL. 178 , pp. 1-64
    • Ihalainen, A.1
  • 16
    • 84859939184 scopus 로고    scopus 로고
    • Review: keratoconus in Asia
    • Kok YO, Tan GF, Loon SC. Review: keratoconus in Asia. Cornea 2012; 31: 581-593.
    • (2012) Cornea , vol.31 , pp. 581-593
    • Kok, Y.O.1    Tan, G.F.2    Loon, S.C.3
  • 19
    • 34147164934 scopus 로고    scopus 로고
    • Topographic indications of emerging keratoconus in teenage New Zealanders
    • Owens H, Gamble GD, Bjornholdt MC, Boyce NK, Keung L. Topographic indications of emerging keratoconus in teenage New Zealanders. Cornea 2007; 26: 312-318.
    • (2007) Cornea , vol.26 , pp. 312-318
    • Owens, H.1    Gamble, G.D.2    Bjornholdt, M.C.3    Boyce, N.K.4    Keung, L.5
  • 21
    • 16244386491 scopus 로고    scopus 로고
    • The indications and outcome of paediatric corneal transplantation in New Zealand: 1991-2003
    • Patel HY, Ormonde S, Brookes NH, Moffatt LS, McGhee CN. The indications and outcome of paediatric corneal transplantation in New Zealand: 1991-2003. Br J Ophthalmol 2005; 89: 404-408.
    • (2005) Br J Ophthalmol , vol.89 , pp. 404-408
    • Patel, H.Y.1    Ormonde, S.2    Brookes, N.H.3    Moffatt, L.S.4    McGhee, C.N.5
  • 23
    • 0027483407 scopus 로고
    • Corneal abnormalities in Ehlers-Danlos syndrome type VI
    • Cameron JA. Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea 1993; 12: 54-59.
    • (1993) Cornea , vol.12 , pp. 54-59
    • Cameron, J.A.1
  • 24
    • 0028107405 scopus 로고
    • Bilateral keratoconus in Crouzon's syndrome
    • Perlman JM, Zaidman GW. Bilateral keratoconus in Crouzon's syndrome. Cornea 1994; 13: 80-81.
    • (1994) Cornea , vol.13 , pp. 80-81
    • Perlman, J.M.1    Zaidman, G.W.2
  • 25
    • 0019506319 scopus 로고
    • Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree
    • Bass HN, Sparkes RS, Crandall BF, Marcy SM. Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree. J Pediatr 1981; 98: 591-593.
    • (1981) J Pediatr , vol.98 , pp. 591-593
    • Bass, H.N.1    Sparkes, R.S.2    Crandall, B.F.3    Marcy, S.M.4
  • 26
    • 43949132975 scopus 로고    scopus 로고
    • The value of keratometry and central corneal thickness measurements in the clinical diagnosis of Marfan syndrome
    • Heur M, Costin B, Crowe S, Grimm RA, Moran R, Svensson LG, Traboulsi EI. The value of keratometry and central corneal thickness measurements in the clinical diagnosis of Marfan syndrome. Am J Ophthalmol 2008; 145: 997-1001.
    • (2008) Am J Ophthalmol , vol.145 , pp. 997-1001
    • Heur, M.1    Costin, B.2    Crowe, S.3    Grimm, R.A.4    Moran, R.5    Svensson, L.G.6    Traboulsi, E.I.7
  • 27
    • 0019754992 scopus 로고
    • The eye in the Marfan syndrome
    • Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 1981; 79: 684-733.
    • (1981) Trans Am Ophthalmol Soc , vol.79 , pp. 684-733
    • Maumenee, I.H.1
  • 29
    • 0345714659 scopus 로고    scopus 로고
    • Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes
    • Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci 2003; 44: 5063-5066.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 5063-5066
    • Hughes, A.E.1    Dash, D.P.2    Jackson, A.J.3    Frazer, D.G.4    Silvestri, G.5
  • 31
    • 0017850322 scopus 로고
    • Congenital Leber amaurosis, keratoconus, and mental retardation in familial juvenile nephronophtisis
    • Godel V, Blumenthal M, Iaina A. Congenital Leber amaurosis, keratoconus, and mental retardation in familial juvenile nephronophtisis. J Pediatr Ophthalmol Strabismus 1978; 15: 89-91.
    • (1978) J Pediatr Ophthalmol Strabismus , vol.15 , pp. 89-91
    • Godel, V.1    Blumenthal, M.2    Iaina, A.3
  • 32
    • 0028827430 scopus 로고
    • Keratoconus and progressive cone dystrophy
    • Wilhelmus KR. Keratoconus and progressive cone dystrophy. Ophthalmologica 1995; 209: 278-279.
    • (1995) Ophthalmologica , vol.209 , pp. 278-279
    • Wilhelmus, K.R.1
  • 33
    • 84860272499 scopus 로고    scopus 로고
    • A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus
    • Piccione M, Serra G, Sanfilippo C, Andreucci E, Sani I, Corsello G. A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus. Minerva Pediatr 2012; 64: 59-64.
    • (2012) Minerva Pediatr , vol.64 , pp. 59-64
    • Piccione, M.1    Serra, G.2    Sanfilippo, C.3    Andreucci, E.4    Sani, I.5    Corsello, G.6
  • 35
    • 0016260267 scopus 로고
    • Posterior polymorphous dystrophy associated with keratoconus
    • Gasset AR, Zimmerman TJ. Posterior polymorphous dystrophy associated with keratoconus. Am J Ophthalmol 1974; 78: 535-537.
    • (1974) Am J Ophthalmol , vol.78 , pp. 535-537
    • Gasset, A.R.1    Zimmerman, T.J.2
  • 36
    • 0026660037 scopus 로고
    • Keratoconus and bilateral lattice-granular corneal dystrophies
    • Sassani JW, Smith SG, Rabinowitz YS. Keratoconus and bilateral lattice-granular corneal dystrophies. Cornea 1992; 11: 343-350.
    • (1992) Cornea , vol.11 , pp. 343-350
    • Sassani, J.W.1    Smith, S.G.2    Rabinowitz, Y.S.3
  • 37
    • 0036132675 scopus 로고    scopus 로고
    • Keratoconus associated with corneal granular dystrophy in a patient of Italian origin
    • Wollensak G, Green WR, Temprano J. Keratoconus associated with corneal granular dystrophy in a patient of Italian origin. Cornea 2002; 21: 121-122.
    • (2002) Cornea , vol.21 , pp. 121-122
    • Wollensak, G.1    Green, W.R.2    Temprano, J.3
  • 38
    • 0025360350 scopus 로고
    • Keratoconus and Fuchs' corneal endothelial dystrophy in a patient and her family
    • Lipman RM, Rubenstein JB, Torczynski E. Keratoconus and Fuchs' corneal endothelial dystrophy in a patient and her family. Arch Ophthalmol 1990; 108: 993-994.
    • (1990) Arch Ophthalmol , vol.108 , pp. 993-994
    • Lipman, R.M.1    Rubenstein, J.B.2    Torczynski, E.3
  • 39
    • 0021792234 scopus 로고
    • The ocular features of Down's syndrome
    • Shapiro MB, France TD. The ocular features of Down's syndrome. Am J Ophthalmol 1985; 99: 659-663.
    • (1985) Am J Ophthalmol , vol.99 , pp. 659-663
    • Shapiro, M.B.1    France, T.D.2
  • 40
    • 0030865292 scopus 로고    scopus 로고
    • Keratoconus and Turner's syndrome
    • Macsai M, Maguen E, Nucci P. Keratoconus and Turner's syndrome. Cornea 1997; 16: 534-536.
    • (1997) Cornea , vol.16 , pp. 534-536
    • Macsai, M.1    Maguen, E.2    Nucci, P.3
  • 41
    • 0033833616 scopus 로고    scopus 로고
    • Keratoconus associated with chromosome 13 ring abnormality
    • Heaven CJ, Lalloo F, McHale E. Keratoconus associated with chromosome 13 ring abnormality. Br J Ophthalmol 2000; 84: 1079.
    • (2000) Br J Ophthalmol , vol.84 , pp. 1079
    • Heaven, C.J.1    Lalloo, F.2    McHale, E.3
  • 42
    • 0034890984 scopus 로고    scopus 로고
    • Keratoconus associated with a chromosome 7,11 translocation
    • Morrison DA, Rosser EM, Claoue C. Keratoconus associated with a chromosome 7, 11 translocation. Eye (Lond) 2001; 15: 556-557.
    • (2001) Eye (Lond) , vol.15 , pp. 556-557
    • Morrison, D.A.1    Rosser, E.M.2    Claoue, C.3
  • 44
    • 84883710225 scopus 로고    scopus 로고
    • Identification and characterisation of a novel missense homeodomain mutation in ZEB1 resulting in keratoconus
    • 52: 1077; abstract #149.
    • Muszynska D, Lechner J, Dash D, Heon E, Hughes A, Willoughby C. Identification and characterisation of a novel missense homeodomain mutation in ZEB1 resulting in keratoconus. Invest Ophthalmol Vis Sci 2011; 52: 1077; abstract #149.
    • (2011) Invest Ophthalmol Vis Sci
    • Muszynska, D.1    Lechner, J.2    Dash, D.3    Heon, E.4    Hughes, A.5    Willoughby, C.6
  • 46
    • 84861776076 scopus 로고    scopus 로고
    • The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population
    • Guan T, Liu C, Ma Z, Ding S. The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population. Gene 2012; 503: 137-139.
    • (2012) Gene , vol.503 , pp. 137-139
    • Guan, T.1    Liu, C.2    Ma, Z.3    Ding, S.4
  • 48
    • 80052449219 scopus 로고    scopus 로고
    • A prospective study of filaggrin null mutations in keratoconus patients with or without atopic disorders
    • Droitcourt C, Touboul D, Ged C, Ezzedine K, Cario-Andre M, de Verneuil H, Colin J etal. A prospective study of filaggrin null mutations in keratoconus patients with or without atopic disorders. Dermatology 2012; 222: 336-341.
    • (2012) Dermatology , vol.222 , pp. 336-341
    • Droitcourt, C.1    Touboul, D.2    Ged, C.3    Ezzedine, K.4    de Cario-Andre, M.5    Verneuil, H.6    Colin, J.7
  • 49
    • 0034007794 scopus 로고    scopus 로고
    • Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues
    • Semina EV, Mintz-Hittner HA, Murray JC. Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. Genomics 2000; 63: 289-293.
    • (2000) Genomics , vol.63 , pp. 289-293
    • Semina, E.V.1    Mintz-Hittner, H.A.2    Murray, J.C.3
  • 51
    • 38449085901 scopus 로고    scopus 로고
    • Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes
    • Hosseini SM, Herd S, Vincent AL, Heon E. Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. Mol Vis 2008; 14: 71-80.
    • (2008) Mol Vis , vol.14 , pp. 71-80
    • Hosseini, S.M.1    Herd, S.2    Vincent, A.L.3    Heon, E.4
  • 53
    • 1842475539 scopus 로고    scopus 로고
    • VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells
    • Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Ophthalmology 2004; 111: 828-836.
    • (2004) Ophthalmology , vol.111 , pp. 828-836
    • Mintz-Hittner, H.A.1    Semina, E.V.2    Frishman, L.J.3    Prager, T.C.4    Murray, J.C.5
  • 55
    • 45849092577 scopus 로고    scopus 로고
    • The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?
    • Eran P, Almogit A, David Z, Wolf HR, Hana G, Yaniv B, Elon P etal. The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation? Ophthalmic Genet 2008; 29: 53-59.
    • (2008) Ophthalmic Genet , vol.29 , pp. 53-59
    • Eran, P.1    Almogit, A.2    David, Z.3    Wolf, H.R.4    Hana, G.5    Yaniv, B.6    Elon, P.7
  • 56
    • 50249087421 scopus 로고    scopus 로고
    • VSX1 gene variants are associated with keratoconus in unrelated Korean patients
    • Mok JW, Baek SJ, Joo CK. VSX1 gene variants are associated with keratoconus in unrelated Korean patients. J Hum Genet 2008; 53: 842-849.
    • (2008) J Hum Genet , vol.53 , pp. 842-849
    • Mok, J.W.1    Baek, S.J.2    Joo, C.K.3
  • 57
    • 73449087017 scopus 로고    scopus 로고
    • A novel VSX1 mutation identified in an individual with keratoconus in India
    • Paliwal P, Singh A, Tandon R, Titiyal JS, Sharma A. A novel VSX1 mutation identified in an individual with keratoconus in India. Mol Vis 2009; 15: 2475-2479.
    • (2009) Mol Vis , vol.15 , pp. 2475-2479
    • Paliwal, P.1    Singh, A.2    Tandon, R.3    Titiyal, J.S.4    Sharma, A.5
  • 60
    • 77649176897 scopus 로고    scopus 로고
    • Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus
    • Stabuc-Silih M, Strazisar M, Hawlina M, Glavac D. Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus. Cornea 2010; 29: 172-176.
    • (2010) Cornea , vol.29 , pp. 172-176
    • Stabuc-Silih, M.1    Strazisar, M.2    Hawlina, M.3    Glavac, D.4
  • 61
    • 38549098491 scopus 로고    scopus 로고
    • Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus
    • Tang YG, Picornell Y, Su X, Li X, Yang H, Rabinowitz YS. Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. Cornea 2008; 27: 189-192.
    • (2008) Cornea , vol.27 , pp. 189-192
    • Tang, Y.G.1    Picornell, Y.2    Su, X.3    Li, X.4    Yang, H.5    Rabinowitz, Y.S.6
  • 62
    • 65449184499 scopus 로고    scopus 로고
    • 2008 Sir Norman McAlister Gregg Lecture: 150 years of practical observations on the conical cornea-what have we learned?
    • McGhee CN. 2008 Sir Norman McAlister Gregg Lecture: 150 years of practical observations on the conical cornea-what have we learned? Clin Experiment Ophthalmol 2009; 37: 160-176.
    • (2009) Clin Experiment Ophthalmol , vol.37 , pp. 160-176
    • McGhee, C.N.1
  • 65
    • 79952170017 scopus 로고    scopus 로고
    • Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus
    • Paliwal P, Tandon R, Dube D, Kaur P, Sharma A. Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus. Mol Vis 2011; 17: 481-485.
    • (2011) Mol Vis , vol.17 , pp. 481-485
    • Paliwal, P.1    Tandon, R.2    Dube, D.3    Kaur, P.4    Sharma, A.5
  • 66
    • 0026532983 scopus 로고
    • Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis
    • Blair SD, Seabrooks D, Shields WJ, Pillai S, Cavanagh HD. Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis. Cornea 1992; 11: 255-261.
    • (1992) Cornea , vol.11 , pp. 255-261
    • Blair, S.D.1    Seabrooks, D.2    Shields, W.J.3    Pillai, S.4    Cavanagh, H.D.5
  • 68
    • 77958153655 scopus 로고    scopus 로고
    • Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy and keratoconus
    • Lam HY, Wiggs JL, Jurkunas UV. Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy and keratoconus. Cornea 2010; 29: 1180-1185.
    • (2010) Cornea , vol.29 , pp. 1180-1185
    • Lam, H.Y.1    Wiggs, J.L.2    Jurkunas, U.V.3
  • 70
    • 0024517291 scopus 로고
    • Four cases of keratoconus and posterior polymorphous corneal dystrophy
    • Weissman BA, Ehrlich M, Levenson JE, Pettit TH. Four cases of keratoconus and posterior polymorphous corneal dystrophy. Optom Vis Sci 1989; 66: 243-246.
    • (1989) Optom Vis Sci , vol.66 , pp. 243-246
    • Weissman, B.A.1    Ehrlich, M.2    Levenson, J.E.3    Pettit, T.H.4
  • 72
    • 80052701973 scopus 로고    scopus 로고
    • Posterior polymorphous dystrophy associated with nonkeratoconic steep corneal curvatures
    • Raber IM, Fintelmann R, Chhabra S, Ribeiro MP, Eagle RC Jr, Orlin SE. Posterior polymorphous dystrophy associated with nonkeratoconic steep corneal curvatures. Cornea 2011; 30: 1120-1124.
    • (2011) Cornea , vol.30 , pp. 1120-1124
    • Raber, I.M.1    Fintelmann, R.2    Chhabra, S.3    Ribeiro, M.P.4    Eagle Jr., R.C.5    Orlin, S.E.6
  • 73
    • 78649313370 scopus 로고    scopus 로고
    • Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene
    • Liskova P, Filipec M, Merjava S, Jirsova K, Tuft SJ. Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. Ophthalmic Genet 2010; 31: 230-234.
    • (2010) Ophthalmic Genet , vol.31 , pp. 230-234
    • Liskova, P.1    Filipec, M.2    Merjava, S.3    Jirsova, K.4    Tuft, S.J.5
  • 79
    • 84858333271 scopus 로고    scopus 로고
    • Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus
    • Czugala M, Karolak JA, Nowak DM, Polakowski P, Pitarque J, Molinari A, Rydzanicz M etal. Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. Eur J Hum Genet 2012; 20: 389-397.
    • (2012) Eur J Hum Genet , vol.20 , pp. 389-397
    • Czugala, M.1    Karolak, J.A.2    Nowak, D.M.3    Polakowski, P.4    Pitarque, J.5    Molinari, A.6    Rydzanicz, M.7
  • 80
    • 23744433964 scopus 로고    scopus 로고
    • Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1
    • Tang YG, Rabinowitz YS, Taylor KD, Li X, Hu M, Picornell Y, Yang H. Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1. Genet Med 2005; 7: 397-405.
    • (2005) Genet Med , vol.7 , pp. 397-405
    • Tang, Y.G.1    Rabinowitz, Y.S.2    Taylor, K.D.3    Li, X.4    Hu, M.5    Picornell, Y.6    Yang, H.7
  • 81
    • 55749116326 scopus 로고    scopus 로고
    • Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci
    • Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, Giunta C, Hewitt AW etal. Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci. Hum Genet 2008; 124: 379-386.
    • (2008) Hum Genet , vol.124 , pp. 379-386
    • Burdon, K.P.1    Coster, D.J.2    Charlesworth, J.C.3    Mills, R.A.4    Laurie, K.J.5    Giunta, C.6    Hewitt, A.W.7
  • 85
    • 77957015775 scopus 로고    scopus 로고
    • Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers
    • Liskova P, Hysi PG, Waseem N, Ebenezer ND, Bhattacharya SS, Tuft SJ. Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers. Arch Ophthalmol 2010; 128: 1191-1195.
    • (2010) Arch Ophthalmol , vol.128 , pp. 1191-1195
    • Liskova, P.1    Hysi, P.G.2    Waseem, N.3    Ebenezer, N.D.4    Bhattacharya, S.S.5    Tuft, S.J.6
  • 87
    • 84855367370 scopus 로고    scopus 로고
    • 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 etal. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. Hum Mol Genet 2012; 21: 421-429.
    • (2012) Hum Mol Genet , vol.21 , pp. 421-429
    • Li, X.1    Bykhovskaya, Y.2    Haritunians, T.3    Siscovick, D.4    Aldave, A.5    Szczotka-Flynn, L.6    Iyengar, S.K.7
  • 88
    • 79955623386 scopus 로고    scopus 로고
    • High-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus
    • Abu-Amero KK, Hellani AM, Al Mansouri SM, Kalantan H, Al-Muammar AM. High-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus. Mol Vis 2011; 17: 822-826.
    • (2011) Mol Vis , vol.17 , pp. 822-826
    • Abu-Amero, K.K.1    Hellani, A.M.2    Al Mansouri, S.M.3    Kalantan, H.4    Al-Muammar, A.M.5
  • 89
    • 33646551230 scopus 로고    scopus 로고
    • Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis
    • Dash DP, Silvestri G, Hughes AE. Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis. Mol Vis 2006; 12: 499-505.
    • (2006) Mol Vis , vol.12 , pp. 499-505
    • Dash, D.P.1    Silvestri, G.2    Hughes, A.E.3
  • 90
    • 84859241050 scopus 로고    scopus 로고
    • A single-base substitution in the seed region of miR-184 causes EDICT syndrome
    • 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.
    • (2012) Invest Ophthalmol Vis Sci , vol.53 , pp. 348-353
    • Iliff, B.W.1    Riazuddin, S.A.2    Gottsch, J.D.3
  • 93
    • 66049117821 scopus 로고    scopus 로고
    • Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population
    • Yanovitch T, Li YJ, Metlapally R, Abbott D, Viet KN, Young TL. Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population. Mol Vis 2009; 15: 1028-1035.
    • (2009) Mol Vis , vol.15 , pp. 1028-1035
    • Yanovitch, T.1    Li, Y.J.2    Metlapally, R.3    Abbott, D.4    Viet, K.N.5    Young, T.L.6
  • 96
    • 77953226403 scopus 로고    scopus 로고
    • Common genetic variants near the Brittle Cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness
    • e1000947.
    • Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB etal. Common genetic variants near the Brittle Cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet 2010; 6: e1000947.
    • (2010) PLoS Genet , vol.6
    • Lu, Y.1    Dimasi, D.P.2    Hysi, P.G.3    Hewitt, A.W.4    Burdon, K.P.5    Toh, T.6    Ruddle, J.B.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.