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Volumn 34, Issue 1-2, 2013, Pages 32-34

Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States

Author keywords

Association Study; FECD; Genetics; TCF4

Indexed keywords

ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CORNEA DYSTROPHY; FUCHS ENDOTHELIAL CORNEAL DYSTROPHY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES;

EID: 84876047240     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.726396     Document Type: Article
Times cited : (21)

References (24)
  • 1
    • 0014985063 scopus 로고
    • Electron microscopic studies on Fuchs' combined dystrophy. II. Anterior portion of the cornea
    • Iwamoto T, DeVoe AG. Electron microscopic studies on Fuchs' combined dystrophy. II. Anterior portion of the cornea. Invest Ophthalmol 1971;10:29-40.
    • (1971) Invest Ophthalmol , vol.10 , pp. 29-40
    • Iwamoto, T.1    Devoe, A.G.2
  • 3
    • 0023712886 scopus 로고
    • Endothelial function and aqueous humor flow rate in patients with Fuchs' dystrophy
    • Wilson SE, Bourne WM, O'Brien PC, Brubaker RF. Endothelial function and aqueous humor flow rate in patients with Fuchs' dystrophy. Am J Ophthalmol 1988;106:270-278.
    • (1988) Am J Ophthalmol , vol.106 , pp. 270-278
    • Wilson, S.E.1    Bourne, W.M.2    O'Brien, P.C.3    Brubaker, R.F.4
  • 4
    • 0020015429 scopus 로고
    • Specular microscopy of the corneal endothelium. Optical solutions and clinical results
    • Bigar F. Specular microscopy of the corneal endothelium. Optical solutions and clinical results. Dev Ophthalmol 1982;6:1-94.
    • (1982) Dev Ophthalmol , vol.6 , pp. 1-94
    • Bigar, F.1
  • 6
    • 84860895595 scopus 로고    scopus 로고
    • Trends in the indications for corneal graft surgery in the United Kingdom: 1999 through 2009
    • Keenan TD, Jones MN, Rushton S, et al. Trends in the indications for corneal graft surgery in the United Kingdom: 1999 through 2009. Arch Ophthalmol 2012;130:621-628.
    • (2012) Arch Ophthalmol , vol.130 , pp. 621-628
    • Keenan, T.D.1    Jones, M.N.2    Rushton, S.3
  • 7
    • 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
  • 8
    • 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
  • 10
    • 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
  • 11
    • 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
  • 12
    • 33745544253 scopus 로고    scopus 로고
    • Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
    • Vithana EN, Morgan P, Sundaresan P, et al. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet 2006;38:755-757.
    • (2006) Nat Genet , vol.38 , pp. 755-757
    • Vithana, E.N.1    Morgan, P.2    Sundaresan, P.3
  • 13
    • 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
  • 14
    • 78049435712 scopus 로고    scopus 로고
    • Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya
    • Riazuddin SA, Vithana EN, Seet LF, et al. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya. Hum Mutat 2010;31:1261-1268.
    • (2010) Hum Mutat , vol.31 , pp. 1261-1268
    • Riazuddin, S.A.1    Vithana, E.N.2    Seet, L.F.3
  • 15
    • 34249748851 scopus 로고    scopus 로고
    • Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy
    • Liskova P, Tuft SJ, Gwilliam R, et al. Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat 2007;28:638.
    • (2007) Hum Mutat , vol.28 , pp. 638
    • Liskova, P.1    Tuft, S.J.2    Gwilliam, R.3
  • 16
    • 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;363:1016-24.
    • (2010) N Engl J Med , vol.363 , pp. 1016-1024
    • Baratz, K.H.1    Tosakulwong, N.2    Ryu, E.3
  • 17
    • 79955437761 scopus 로고    scopus 로고
    • Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus
    • Riazuddin SA, McGlumphy EJ, Yeo WS, Wang J, Katsanis N, Gottsch JD. Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. Invest Ophthalmol Vis Sci 2011;52:2825-2829.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 2825-2829
    • Riazuddin, S.A.1    McGlumphy, E.J.2    Yeo, W.S.3    Wang, J.4    Katsanis, N.5    Gottsch, J.D.6
  • 18
    • 84863411278 scopus 로고    scopus 로고
    • Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process
    • Kuot A, Hewitt AW, Griggs K, et al. Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. Eur J Hum Genet 2012;20:632-638.
    • (2012) Eur J Hum Genet , vol.20 , pp. 632-638
    • Kuot, A.1    Hewitt, A.W.2    Griggs, K.3
  • 19
    • 80053302726 scopus 로고    scopus 로고
    • Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese
    • Thalamuthu A, Khor CC, Venkataraman D, et al. Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese. Invest Ophthalmol Vis Sci 2011;52:5573-5578.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 5573-5578
    • Thalamuthu, A.1    Khor, C.C.2    Venkataraman, D.3
  • 20
    • 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
  • 21
    • 77956529836 scopus 로고    scopus 로고
    • Major progress in Fuchs's corneal dystrophy
    • Wright AF, Dhillon B. Major progress in Fuchs's corneal dystrophy. N Engl J Med 2010;363:1072-1075.
    • (2010) N Engl J Med , vol.363 , pp. 1072-1075
    • Wright, A.F.1    Dhillon, B.2
  • 23
    • 0021980329 scopus 로고
    • Isolation of DNA from biological specimens without extraction with phenol
    • Buffone GJ, Darlinton GJ. Isolation of DNA from biological specimens without extraction with phenol. Clin Chem 1985;31:164-165.
    • (1985) Clin Chem , vol.31 , pp. 164-165
    • Buffone, G.J.1    Darlinton, G.J.2
  • 24
    • 0344889215 scopus 로고    scopus 로고
    • Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
    • Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999;8:899-905.
    • (1999) Hum Mol Genet , vol.8 , pp. 899-905
    • Fingert, J.H.1    Heon, E.2    Liebmann, J.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.