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Volumn 52, Issue 8, 2011, Pages 5573-5578

Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; CHINESE; CHROMOSOME 18Q; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENOTYPING TECHNIQUE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TCF4 GENE; ASIAN; CAUCASIAN; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; RISK FACTOR; SINGAPORE; STATISTICS;

EID: 80053302726     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7568     Document Type: Article
Times cited : (48)

References (35)
  • 3
    • 0019993549 scopus 로고
    • The corneal endothelium. Normal and pathologic structure and function
    • Waring GO, Bourne WM, Edelhauser HF, Kenyon KR. The corneal endothelium. Normal and pathologic structure and function. Ophthlamology. 1982;89:531-590.
    • (1982) Ophthlamology , vol.89 , pp. 531-590
    • Waring, G.O.1    Bourne, W.M.2    Edelhauser, H.F.3    Kenyon, K.R.4
  • 4
    • 33645353332 scopus 로고    scopus 로고
    • Prevalence and risk factors for cornea guttata in the Reykjavik Eye Study
    • Zoega GM, Fujisawa A, Sasaki H, et al. Prevalence and risk factors for cornea guttata in the Reykjavik Eye Study. Ophthalmology. 2006;113:565-569.
    • (2006) Ophthalmology. , vol.113 , pp. 565-569
    • Zoega, G.M.1    Fujisawa, A.2    Sasaki, H.3
  • 5
    • 0016201350 scopus 로고
    • Fuch's endothelial dystrophy of the cornea: 29th Sanford Gifford Memorial Lecture
    • Hogan MJ, Wood I, Fine M. Fuch's endothelial dystrophy of the cornea: 29th Sanford Gifford Memorial Lecture. Am J Ophthlamol. 1974;78:363-383.
    • (1974) Am J Ophthlamol. , vol.78 , pp. 363-383
    • Hogan, M.J.1    Wood, I.2    Fine, M.3
  • 6
    • 0030426379 scopus 로고    scopus 로고
    • Primary cornea guttata in Japanese patients with cataract: Specular microscopic observations
    • Nagaki Y, Hayasaka S, Kitagawa K, Yamamoto S. Primary cornea guttata in Japanese patients with cataract: specular microscopic observations. Jpn J Ophthalmol. 1996;40:520-525.
    • (1996) Jpn J Ophthalmol. , vol.40 , pp. 520-525
    • Nagaki, Y.1    Hayasaka, S.2    Kitagawa, K.3    Yamamoto, S.4
  • 7
    • 0036020401 scopus 로고    scopus 로고
    • Prevalence of primary cornea guttata and morphology of corneal endothelium in aging Japanese and Singaporean subjects
    • Kitagawa K, Kojima M, Sasaki H, et al. Prevalence of primary cornea guttata and morphology of corneal endothelium in aging Japanese and Singaporean subjects. Ophthalmic Res. 2002;34: 135-138.
    • (2002) Ophthalmic Res. , vol.34 , pp. 135-138
    • Kitagawa, K.1    Kojima, M.2    Sasaki, H.3
  • 8
    • 44349154611 scopus 로고    scopus 로고
    • Penetrating keratoplasty in Asian eyes: The Singapore Corneal Transplant Study
    • Tan DT, Janardhanan P, Zhou H, et al. Penetrating keratoplasty in Asian eyes: the Singapore Corneal Transplant Study. Ophthalmology. 2008;115:975-982.
    • (2008) Ophthalmology. , vol.115 , pp. 975-982
    • Tan, D.T.1    Janardhanan, P.2    Zhou, H.3
  • 12
    • 33749145155 scopus 로고    scopus 로고
    • No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy
    • Aldave AJ, Rayner SA, Salem AK, et al. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2006;47:3787-3790.
    • (2006) Invest Ophthalmol Vis Sci. , vol.47 , pp. 3787-3790
    • Aldave, A.J.1    Rayner, S.A.2    Salem, A.K.3
  • 13
    • 22144445323 scopus 로고    scopus 로고
    • Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy
    • Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1934-1939.
    • (2005) Invest Ophthalmol Vis Sci. , vol.46 , pp. 1934-1939
    • Gottsch, J.D.1    Sundin, O.H.2    Liu, S.H.3
  • 14
    • 0035504694 scopus 로고    scopus 로고
    • Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
    • Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415-2423.
    • (2001) Hum Mol Genet. , vol.10 , pp. 2415-2423
    • Biswas, S.1    Munier, F.L.2    Yardley, J.3
  • 15
    • 78751693747 scopus 로고    scopus 로고
    • Collagen-related genes influence the glaucoma risk factor, central corneal thickness
    • Vithana EN, Aung T, Khor CC, et al. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet. 2011;20:649-658.
    • (2011) Hum Mol Genet. , vol.20 , pp. 649-658
    • Vithana, E.N.1    Aung, T.2    Khor, C.C.3
  • 16
    • 33644843021 scopus 로고    scopus 로고
    • Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13
    • Sundin OH, Jun AS, Broman KW, et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci. 2006;47:140-145.
    • (2006) Invest Ophthalmol Vis Sci. , vol.47 , pp. 140-145
    • Sundin, O.H.1    Jun, A.S.2    Broman, K.W.3
  • 17
    • 33749148802 scopus 로고    scopus 로고
    • A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32
    • Sundin OH, Broman KW, Chang HH, et al. A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest Ophthalmol Vis Sci. 2006;47:3919-3926.
    • (2006) Invest Ophthalmol Vis Sci. , vol.47 , pp. 3919-3926
    • Sundin, O.H.1    Broman, K.W.2    Chang, H.H.3
  • 18
    • 73149123913 scopus 로고    scopus 로고
    • Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2
    • Riazuddin SA, Eghrari AO, Al Saif A, et al. Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. Invest Ophthalmol Vis Sci. 2009;50: 5667-5671.
    • (2009) Invest Ophthalmol Vis Sci. , vol.50 , pp. 5667-5671
    • Riazuddin, S.A.1    Eghrari, A.O.2    Al Saif, A.3
  • 19
    • 73149085311 scopus 로고    scopus 로고
    • Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p
    • Riazuddin SA, Zaghloul NA, Al-Saif A, et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet. 2010;86:45-53.
    • (2010) Am J Hum Genet. , vol.86 , pp. 45-53
    • Riazuddin, S.A.1    Zaghloul, N.A.2    Al-Saif, A.3
  • 20
    • 39749109494 scopus 로고    scopus 로고
    • SLC4A11 mutations in Fuchs endothelial corneal dystrophy
    • Vithana EN, Morgan PE, Ramprasad V, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17: 656-666.
    • (2008) Hum Mol Genet. , vol.17 , pp. 656-666
    • Vithana, E.N.1    Morgan, P.E.2    Ramprasad, V.3
  • 21
    • 78049435712 scopus 로고    scopus 로고
    • Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy
    • Nov
    • Riazuddin SA, Vithana EN, Seet LF, et al. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat. 2010 Nov;31:1261-1268.
    • (2010) Hum Mutat. , vol.31 , pp. 1261-1268
    • Riazuddin, S.A.1    Vithana, E.N.2    Seet, L.F.3
  • 22
    • 77956521660 scopus 로고    scopus 로고
    • E2-2 protein and Fuchs's corneal dystrophy
    • Baratz KH, Tosakulwong N, Ryu E, et al. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med. 2010;363:1016-1024.
    • (2010) N Engl J Med. , vol.363 , pp. 1016-1024
    • Baratz, K.H.1    Tosakulwong, N.2    Ryu, E.3
  • 23
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-575.
    • (2007) Am J Hum Genet. , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3
  • 24
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265.
    • (2005) Bioinformatics. , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 25
    • 5344244656 scopus 로고    scopus 로고
    • R Development Core Team. Vienna, Austria: R Foundation for Statistical Computing
    • R Development Core Team. R: A Language and Environment for Statistical Computing. Vienna, Austria: R Foundation for Statistical Computing; 2008.
    • (2008) R: A Language and Environment for Statistical Computing
  • 27
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389.
    • (2005) Science. , vol.308 , pp. 385-389
    • Klein, R.J.1    Zeiss, C.2    Chew, E.Y.3
  • 28
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of age-related macular degeneration
    • Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421.
    • (2005) Science. , vol.308 , pp. 419-421
    • Haines, J.L.1    Hauser, M.A.2    Schmidt, S.3
  • 29
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • Edwards AO, Ritter R, Abel KJ, et al. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421-424.
    • (2005) Science. , vol.308 , pp. 421-424
    • Edwards, A.O.1    Ritter, R.2    Abel, K.J.3
  • 30
    • 67349158067 scopus 로고    scopus 로고
    • A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)
    • Thomas G, Jacobs KB, Kraft P, et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009;41:579-584.
    • (2009) Nat Genet. , vol.41 , pp. 579-584
    • Thomas, G.1    Jacobs, K.B.2    Kraft, P.3
  • 31
    • 78651257523 scopus 로고    scopus 로고
    • Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3
    • Purdue MP, Johansson M, Zelenika D, et al. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet. 2011;43:60-65.
    • (2011) Nat Genet. , vol.43 , pp. 60-65
    • Purdue, M.P.1    Johansson, M.2    Zelenika, D.3
  • 32
    • 0028307093 scopus 로고
    • Structure and function of helix-loop-helix proteins
    • Murre C, Bain G, van Dijk MA, et al. Structure and function of helix-loop-helix proteins. Biochim Biophys Acta. 1994;1218:129-135.
    • (1994) Biochim Biophys Acta. , vol.1218 , pp. 129-135
    • Murre, C.1    Bain, G.2    van Dijk, M.A.3
  • 33
    • 34247560106 scopus 로고    scopus 로고
    • Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
    • Amiel J, Rio M, de Pontual L, et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. 2007;80: 988-993.
    • (2007) Am J Hum Genet. , vol.80 , pp. 988-993
    • Amiel, J.1    Rio, M.2    de Pontual, L.3
  • 34
    • 0035813173 scopus 로고    scopus 로고
    • Delta Ef1 binds to a far upstream sequence of the mouse pro-alpha 1(I) collagen gene and represses its expression in osteoblasts
    • Terraz C, Toman D, Delauche M, Ronco P, Rossert J. Delta Ef1 binds to a far upstream sequence of the mouse pro-alpha 1(I) collagen gene and represses its expression in osteoblasts. J Biol Chem. 2001;276:37011-37019.
    • (2001) J Biol Chem. , vol.276 , pp. 37011-37019
    • Terraz, C.1    Toman, D.2    Delauche, M.3    Ronco, P.4    Rossert, J.5
  • 35
    • 0028113326 scopus 로고
    • E1a induces the expression of epithelial characteristics
    • Frisch SM. E1a induces the expression of epithelial characteristics. J Cell Biol. 1994;127:1085-1096.
    • (1994) J Cell Biol. , vol.127 , pp. 1085-1096
    • Frisch, S.M.1


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