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Volumn 54, Issue 8, 2013, Pages 5266-5272

Mutational analysis of MIR184 in sporadic keratoconus and myopia

(23)  Lechner, Judith a   Bae, Ha Ae b   Guduric Fuchs, Jasenka a   Rice, Aine c   Govindarajan, Gowthaman d   Siddiqui, Salina c   Farraj, Layal Abi c   Yip, Shea Ping e   Yap, Maurice e   Das, Manoranjan f   Souzeau, Emmanuelle b   Coster, Doug b   Mills, Richard A b   Lindsay, Richard g   Phillips, Tony b   Mitchell, Paul h   Ali, Manir c   Inglehearn, Chris F c   Sundaresan, Periasamy d   Craig, Jamie E b   more..


Author keywords

Corneal dystrophies; Hereditary; Hsa miR 184; Keratoconus; Mir184; Myopia

Indexed keywords

MICRORNA; MICRORNA 184; UNCLASSIFIED DRUG;

EID: 84995280088     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-12035     Document Type: Article
Times cited : (68)

References (44)
  • 2
    • 67650692742 scopus 로고    scopus 로고
    • Penetrating keratoplasty: Indications, outcomes, and complications
    • Rahman I, Carley F, Hillarby C, Brahma A, Tullo AB. Penetrating keratoplasty: indications, outcomes, and complications. Eye (Lond). 2009;23:1288-1294.
    • (2009) Eye (Lond) , vol.23 , pp. 1288-1294
    • Rahman, I.1    Carley, F.2    Hillarby, C.3    Brahma, A.4    Tullo, A.B.5
  • 3
    • 0021343891 scopus 로고
    • Keratoconus and related noninflammatory corneal thinning disorders
    • Krachmer JH, Feder RS, Belin MW. Keratoconus and related noninflammatory corneal thinning disorders. Surv Ophthalmol. 1984;28:293-322.
    • (1984) Surv Ophthalmol , vol.28 , pp. 293-322
    • Krachmer, J.H.1    Feder, R.S.2    Belin, M.W.3
  • 8
    • 0014591066 scopus 로고
    • Dominantly inherited keratoconus
    • Falls HF, Allen AW. Dominantly inherited keratoconus. J Genet Hum. 1969;17:317-324.
    • (1969) J Genet Hum , vol.17 , pp. 317-324
    • Falls, H.F.1    Allen, A.W.2
  • 9
    • 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
  • 12
    • 0036566556 scopus 로고    scopus 로고
    • VSX1: A gene for posterior polymorphous dystrophy and keratoconus
    • Heon E, Greenberg A, Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002;11:1029-1036.
    • (2002) Hum Mol Genet , vol.11 , pp. 1029-1036
    • Heon, E.1    Greenberg, A.2    Kopp, K.K.3
  • 14
    • 35148812750 scopus 로고    scopus 로고
    • Molecular analysis of the VSX1 gene in familial keratoconus
    • Liskova P, Ebenezer ND, Hysi PG, et al. Molecular analysis of the VSX1 gene in familial keratoconus. Mol Vis. 2007;13:1887- 1891.
    • (2007) Mol Vis , vol.13 , pp. 1887
    • Liskova, P.1    Ebenezer, N.D.2    Hysi, P.G.3
  • 15
    • 77953556702 scopus 로고    scopus 로고
    • Mutational screening of VSX1 in keratoconus patients from the European population
    • Dash DP, George S, O'Prey D, et al. Mutational screening of VSX1 in keratoconus patients from the European population. Eye (Lond). 2010;24:1085-1092.
    • (2010) Eye (Lond) , vol.24 , pp. 1085-1092
    • Dash, D.P.1    George, S.2    O'Prey, D.3
  • 16
    • 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
  • 18
    • 83055170864 scopus 로고    scopus 로고
    • Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus
    • De Bonis P, Laborante A, Pizzicoli C, et al. Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. Mol Vis. 2011;17:2482-2494.
    • (2011) Mol Vis , vol.17 , pp. 2482-2494
    • de Bonis, P.1    Laborante, A.2    Pizzicoli, C.3
  • 19
    • 84862833128 scopus 로고    scopus 로고
    • Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus
    • Burdon KP, Macgregor S, Bykhovskaya Y, et al. Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. Invest Ophthalmol Vis Sci. 2011;52: 8514-8519.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 8514-8519
    • Burdon, K.P.1    Macgregor, S.2    Bykhovskaya, Y.3
  • 20
    • 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, et al. 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
  • 21
    • 84866285805 scopus 로고    scopus 로고
    • Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in familybased and case-control studies
    • Bykhovskaya Y, Li X, Epifantseva I, et al. Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in familybased and case-control studies. Invest Ophthalmol Vis Sci. 2012;53:4152-4157.
    • (2012) Invest Ophthalmol Vis Sci , vol.53 , pp. 4152-4157
    • Bykhovskaya, Y.1    Li, X.2    Epifantseva, I.3
  • 22
    • 80955145750 scopus 로고    scopus 로고
    • Mutation altering the miR-184 seed region causes familial keratoconus with cataract
    • Hughes AE, Bradley DT, Campbell M, et al. Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Am J Hum Genet. 2011;89:628-633.
    • (2011) Am J Hum Genet , vol.89 , pp. 628-633
    • Hughes, A.E.1    Bradley, D.T.2    Campbell, M.3
  • 23
    • 0036321733 scopus 로고    scopus 로고
    • Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3
    • Jun AS, Broman KW, Do DV, Akpek EK, Stark WJ, Gottsch JD. Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. Am J Ophthalmol. 2002;134:172-176.
    • (2002) Am J Ophthalmol , vol.134 , pp. 172-176
    • Jun, A.S.1    Broman, K.W.2    Do, D.V.3    Akpek, E.K.4    Stark, W.J.5    Gottsch, J.D.6
  • 24
    • 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
  • 25
    • 78650841023 scopus 로고    scopus 로고
    • Keratoconus association with axial myopia: A prospective biometric study
    • Ernst BJ, Hsu HY. Keratoconus association with axial myopia: a prospective biometric study. Eye Contact Lens. 2011;37: 2-5.
    • (2011) Eye Contact Lens , vol.37 , pp. 2-5
    • Ernst, B.J.1    Hsu, H.Y.2
  • 26
    • 79955930031 scopus 로고    scopus 로고
    • PAX6 haplotypes are associated with high myopia in Han chinese
    • Jiang B, Yap MK, Leung KH, et al. PAX6 haplotypes are associated with high myopia in Han chinese. PLoS One. 2011; 6:e19587.
    • (2011) PLoS One , vol.e19587 , pp. 6
    • Jiang, B.1    Yap, M.K.2    Leung, K.H.3
  • 27
    • 84856946211 scopus 로고    scopus 로고
    • Association of IGF1 gene haplotypes with high myopia in Chinese adults
    • Mak JY, Yap MK, Fung WY, Ng PW, Yip SP. Association of IGF1 gene haplotypes with high myopia in Chinese adults. Arch Ophthalmol. 2012;130:209-216.
    • (2012) Arch Ophthalmol , vol.130 , pp. 209-216
    • Mak, J.Y.1    Yap, M.K.2    Fung, W.Y.3    Ng, P.W.4    Yip, S.P.5
  • 28
    • 65249140559 scopus 로고    scopus 로고
    • TGFB1 as a susceptibility gene for high myopia: A replication study with new findings
    • Zha Y, Leung KH, Lo KK, et al. TGFB1 as a susceptibility gene for high myopia: a replication study with new findings. Arch Ophthalmol. 2009;127:541-548.
    • (2009) Arch Ophthalmol , vol.127 , pp. 541-548
    • Zha, Y.1    Leung, K.H.2    Lo, K.K.3
  • 29
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol. 2000;132: 365-386.
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 30
    • 0042121256 scopus 로고    scopus 로고
    • Mfold web server for nucleic acid folding and hybridization prediction
    • Zuker M. Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res. 2003;31:3406- 3415.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3406
    • Zuker, M.1
  • 31
    • 0036581160 scopus 로고    scopus 로고
    • Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR
    • Pfaffl MW, Horgan GW, Dempfle L. Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR. Nucleic Acids Res. 2002;30:e36.
    • (2002) Nucleic Acids Res , vol.e36 , pp. 30
    • Pfaffl, M.W.1    Horgan, G.W.2    Dempfle, L.3
  • 32
    • 70349086163 scopus 로고    scopus 로고
    • Meta-analysis: Retinal vessel caliber and risk for coronary heart disease
    • McGeechan K, Liew G, Macaskill P, et al. Meta-analysis: retinal vessel caliber and risk for coronary heart disease. Ann Intern Med. 2009;151:404-413.
    • (2009) Ann Intern Med , vol.151 , pp. 404-413
    • McGeechan, K.1    Liew, G.2    Macaskill, P.3
  • 33
    • 69749108657 scopus 로고    scopus 로고
    • The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
    • Biesecker LG, Mullikin JC, Facio FM, et al. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009;19:1665-1674.
    • (2009) Genome Res , vol.19 , pp. 1665-1674
    • Biesecker, L.G.1    Mullikin, J.C.2    Facio, F.M.3
  • 34
    • 0347444723 scopus 로고    scopus 로고
    • MicroRNAs: Genomics, biogenesis, mechanism, and function
    • Bartel DP. MicroRNAs: genomics, biogenesis, mechanism, and function. Cell. 2004;116:281-297.
    • (2004) Cell , vol.116 , pp. 281-297
    • Bartel, D.P.1
  • 35
    • 58249088751 scopus 로고    scopus 로고
    • MicroRNAs: Target recognition and regulatory functions
    • Bartel DP. MicroRNAs: target recognition and regulatory functions. Cell. 2009;136:215-233.
    • (2009) Cell , vol.136 , pp. 215-233
    • Bartel, D.P.1
  • 38
    • 67349223927 scopus 로고    scopus 로고
    • Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss
    • Mencia A, Modamio-Hoybjor S, Redshaw N, et al. Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet. 2009;41: 609-613.
    • (2009) Nat Genet , vol.41 , pp. 609-613
    • Mencia, A.1    Modamio-Hoybjor, S.2    Redshaw, N.3
  • 39
    • 84860710724 scopus 로고    scopus 로고
    • Documenting the corneal phenotype associated with the MIR184 c.57C>T mutation
    • Iliff BW, Riazuddin SA, Gottsch JD. Documenting the corneal phenotype associated with the MIR184 c.57C>T mutation. Am J Hum Genet. 2012;90:934; author reply 934-935.
    • (2012) Am J Hum Genet , vol.90 , Issue.934 , pp. 934-935
    • Iliff, B.W.1    Riazuddin, S.A.2    Gottsch, J.D.3
  • 40
    • 0036188164 scopus 로고    scopus 로고
    • Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis
    • Akpek EK, Jun AS, Goodman DF, Green WR, Gottsch JD. Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis. Ophthalmology. 2002;109:513- 519.
    • (2002) Ophthalmology , vol.109 , pp. 513
    • Akpek, E.K.1    Jun, A.S.2    Goodman, D.F.3    Green, W.R.4    Gottsch, J.D.5
  • 41
    • 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
  • 42
    • 84862905661 scopus 로고    scopus 로고
    • How many genes are involved in schizophrenia?A simple simulation
    • Paek MJ, Kang UG. How many genes are involved in schizophrenia? A simple simulation. Prog Neuropsychopharmacol Biol Psychiatry. 2012;38:302-309.
    • (2012) Prog Neuropsychopharmacol Biol Psychiatry , vol.38 , pp. 302-309
    • Paek, M.J.1    Kang, U.G.2
  • 44
    • 84860530138 scopus 로고    scopus 로고
    • Pluripotent stem cell model reveals essential roles for miR450b-5p and miR-184 in embryonic corneal lineage specification
    • Shalom-Feuerstein R, Serror L, De La Forest Divonne S, et al. Pluripotent stem cell model reveals essential roles for miR450b-5p and miR-184 in embryonic corneal lineage specification. Stem Cells. 2012;30:898-909.
    • (2012) Stem Cells , vol.30 , pp. 898-909
    • Shalom-Feuerstein, R.1    Serror, L.2    De La Forest Divonne, S.3


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