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Volumn 28, Issue 7, 2009, Pages 801-807

Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval

Author keywords

Congenital hereditary endothelial dystrophy; Linkage; Posterior polymorphous corneal dystrophy, candidate gene screening

Indexed keywords

DNA;

EID: 70349336806     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICO.0b013e31819672fb     Document Type: Article
Times cited : (12)

References (24)
  • 1
    • 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
  • 2
    • 35848932106 scopus 로고    scopus 로고
    • Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia
    • Aldave AJ, Yellore VS, Yu F, et al. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A. 2007;143:2549-2556.
    • (2007) Am J Med Genet A , vol.143 , pp. 2549-2556
    • Aldave, A.J.1    Yellore, V.S.2    Yu, F.3
  • 3
    • 27244444742 scopus 로고    scopus 로고
    • Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells
    • Krafchak CM, Pawar H, Moroi SE, et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet. 2005;77: 694-708.
    • (2005) Am J Hum Genet , vol.77 , pp. 694-708
    • Krafchak, C.M.1    Pawar, H.2    Moroi, S.E.3
  • 4
    • 0028920471 scopus 로고
    • Linkage of posterior polymorphous corneal dystrophy to 20q11
    • Heon E, Mathers WD, Alward WL, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet. 1995;4: 485-488.
    • (1995) Hum Mol Genet , vol.4 , pp. 485-488
    • Heon, E.1    Mathers, W.D.2    Alward, W.L.3
  • 5
    • 33644805177 scopus 로고    scopus 로고
    • Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene
    • Gwilliam R, Liskova P, Filipec M, et al. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci. 2005;46:4480-4484.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 4480-4484
    • Gwilliam, R.1    Liskova, P.2    Filipec, M.3
  • 6
    • 34247219778 scopus 로고    scopus 로고
    • Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20
    • Yellore VS, Papp JC, Sobel E, et al. Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. Genet Med. 2007;9:228-234.
    • (2007) Genet Med , vol.9 , pp. 228-234
    • Yellore, V.S.1    Papp, J.C.2    Sobel, E.3
  • 7
    • 0028895206 scopus 로고
    • Linkage of congenital hereditary endothelial dystrophy to chromosome 20
    • Toma NM, Ebenezer ND, Inglehearn CF, et al. Linkage of congenital hereditary endothelial dystrophy to chromosome 20. Hum Mol Genet. 1995;4:2395-2398.
    • (1995) Hum Mol Genet , vol.4 , pp. 2395-2398
    • Toma, N.M.1    Ebenezer, N.D.2    Inglehearn, C.F.3
  • 8
    • 0017692072 scopus 로고
    • The clinical spectrum of posterior polymorphous dystrophy
    • Cibis GW, Krachmer JA, Phelps CD, et al. The clinical spectrum of posterior polymorphous dystrophy. Arch Ophthalmol. 1977;95:1529-1537.
    • (1977) Arch Ophthalmol , vol.95 , pp. 1529-1537
    • Cibis, G.W.1    Krachmer, J.A.2    Phelps, C.D.3
  • 9
    • 0022271735 scopus 로고
    • Posterior polymorphous corneal dystrophy: A disease characterized by epithelial-like endothelial cells which influence management and prognosis
    • Krachmer JH. Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis. Trans Am Ophthalmol Soc. 1985;83:413-475.
    • (1985) Trans Am Ophthalmol Soc , vol.83 , pp. 413-475
    • Krachmer, J.H.1
  • 10
    • 0023857465 scopus 로고
    • Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea
    • McCartney AC, Kirkness CM. Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea. Eye. 1988;2:63-70.
    • (1988) Eye , vol.2 , pp. 63-70
    • McCartney, A.C.1    Kirkness, C.M.2
  • 13
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, et al. 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
  • 14
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million SNPs
    • Frazer KA, Ballinger DG, Cox DR, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007;449: 851-861.
    • (2007) Nature , vol.449 , pp. 851-861
    • Frazer, K.A.1    Ballinger, D.G.2    Cox, D.R.3
  • 15
    • 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, et al. 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
  • 16
    • 0035924324 scopus 로고    scopus 로고
    • The DNA sequence and comparative analysis of human chromosome 20
    • Deloukas P, Matthews LH, Ashurst J, et al. The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001;414: 865-871.
    • (2001) Nature , vol.414 , pp. 865-871
    • Deloukas, P.1    Matthews, L.H.2    Ashurst, J.3
  • 17
    • 34848877291 scopus 로고    scopus 로고
    • Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy
    • Orr A, Dube MP, Marcadier J, et al. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS ONE. 2007;2:e685.
    • (2007) PLoS ONE , vol.2
    • Orr, A.1    Dube, M.P.2    Marcadier, J.3
  • 18
    • 38949212779 scopus 로고    scopus 로고
    • Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function
    • Weiss JS, Kruth HS, Kuivaniemi H, et al. Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. Am J Med Genet A. 2008;146:271-283.
    • (2008) Am J Med Genet A , vol.146 , pp. 271-283
    • Weiss, J.S.1    Kruth, H.S.2    Kuivaniemi, H.3
  • 19
    • 38449112757 scopus 로고    scopus 로고
    • Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy
    • Weiss JS, Kruth HS, Kuivaniemi H, et al. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Invest Ophthalmol Vis Sci. 2007;48:5007-5012.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 5007-5012
    • Weiss, J.S.1    Kruth, H.S.2    Kuivaniemi, H.3
  • 20
    • 34848859527 scopus 로고    scopus 로고
    • Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy
    • Yellore VS, Khan MA, Bourla N, et al. Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis. 2007;13: 1777-1782.
    • (2007) Mol Vis , vol.13 , pp. 1777-1782
    • Yellore, V.S.1    Khan, M.A.2    Bourla, N.3
  • 21
    • 20544452085 scopus 로고    scopus 로고
    • Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy
    • Li S, Tiab L, Jiao X, et al. Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy. Am J Hum Genet. 2005;77:54-63.
    • (2005) Am J Hum Genet , vol.77 , pp. 54-63
    • Li, S.1    Tiab, L.2    Jiao, X.3
  • 22
    • 34547425743 scopus 로고    scopus 로고
    • Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy
    • Sultana A, Garg P, Ramamurthy B, et al. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis. 2007;13:1327-1332.
    • (2007) Mol Vis , vol.13 , pp. 1327-1332
    • Sultana, A.1    Garg, P.2    Ramamurthy, B.3
  • 23
    • 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
  • 24
    • 34848867805 scopus 로고    scopus 로고
    • An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation
    • Yellore VS, Sonmez B, Chen MC, et al. An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation. Ophthalmic Genet. 2007;28:169-174.
    • (2007) Ophthalmic Genet , vol.28 , pp. 169-174
    • Yellore, V.S.1    Sonmez, B.2    Chen, M.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.