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Volumn 5, Issue 8, 2010, Pages

The PPCD1 mouse: Characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY 1 PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ZEB1; UNCLASSIFIED DRUG;

EID: 77957867325     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0012213     Document Type: Article
Times cited : (5)

References (36)
  • 1
    • 37549047240 scopus 로고    scopus 로고
    • Congenital corneal opacities: A review with a focus on genetics
    • Ciralsky J, Colby K (2007) Congenital corneal opacities: a review with a focus on genetics. Semin Ophthalmol 22: 241-246.
    • (2007) Semin Ophthalmol , vol.22 , pp. 241-246
    • Ciralsky, J.1    Colby, K.2
  • 2
    • 0036827924 scopus 로고    scopus 로고
    • An immunohistochemical analysis and comparison of posterior polymorphous dystrophy with congenital hereditary endothelial dystrophy
    • Cockerham GC, Laver NV, Hidayat AA, McCoy DL (2002) An immunohistochemical analysis and comparison of posterior polymorphous dystrophy with congenital hereditary endothelial dystrophy. Cornea 21: 787-791.
    • (2002) Cornea , vol.21 , pp. 787-791
    • Cockerham, G.C.1    Laver, N.V.2    Hidayat, A.A.3    McCoy, D.L.4
  • 3
    • 33751102383 scopus 로고    scopus 로고
    • Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy
    • Hidayat AA, Cockerham GC (2006) Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. Cornea 25: 956-959.
    • (2006) Cornea , vol.25 , pp. 956-959
    • Hidayat, A.A.1    Cockerham, G.C.2
  • 4
    • 0028937779 scopus 로고
    • Immunohistochemical pathology of the corneal endothelium in iridocorneal endothelial syndrome
    • Hirst LW, Bancroft J, Yamauchi K, Green WR (1995) Immunohistochemical pathology of the corneal endothelium in iridocorneal endothelial syndrome. Invest Ophthalmol Vis Sci 36: 820-827.
    • (1995) Invest Ophthalmol Vis Sci , vol.36 , pp. 820-827
    • Hirst, L.W.1    Bancroft, J.2    Yamauchi, K.3    Green, W.R.4
  • 5
    • 67651108953 scopus 로고    scopus 로고
    • The clinical spectrum between posterior polymorphous dystrophy and iridocorneal endothelial syndromes
    • Lefebvre V, Sowka JW, Frauens BJ (2009) The clinical spectrum between posterior polymorphous dystrophy and iridocorneal endothelial syndromes. Optometry 80: 431-436.
    • (2009) Optometry , vol.80 , pp. 431-436
    • Lefebvre, V.1    Sowka, J.W.2    Frauens, B.J.3
  • 6
    • 0035069336 scopus 로고    scopus 로고
    • Posterior polymorphous membranous dystrophy with overlapping features of iridocorneal endothelial syndrome
    • Anderson NJ, Badawi DY, Grossniklaus HE, Stulting RD (2001) Posterior polymorphous membranous dystrophy with overlapping features of iridocorneal endothelial syndrome. Arch Ophthalmol 119: 624-625.
    • (2001) Arch Ophthalmol , vol.119 , pp. 624-625
    • Anderson, N.J.1    Badawi, D.Y.2    Grossniklaus, H.E.3    Stulting, R.D.4
  • 7
    • 33947095039 scopus 로고    scopus 로고
    • Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients
    • Jirsova K, Merjava S, Martincova R, Gwilliam R, Ebenezer ND, et al. (2007) Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients. Exp Eye Res 84: 680-686.
    • (2007) Exp Eye Res , vol.84 , pp. 680-686
    • Jirsova, K.1    Merjava, S.2    Martincova, R.3    Gwilliam, R.4    Ebenezer, N.D.5
  • 9
    • 0347581233 scopus 로고    scopus 로고
    • The molecular genetics of the corneal dystrophies-current status
    • Klintworth GK (2003) The molecular genetics of the corneal dystrophies-current status. Front Biosci 8: d687-713.
    • (2003) Front Biosci , vol.8
    • Klintworth, G.K.1
  • 10
    • 0037376817 scopus 로고    scopus 로고
    • Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy
    • Moroi SE, Gokhale PA, Schteingart MT, Sugar A, Downs CA, et al. (2003) Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. Am J Ophthalmol 135: 461-470.
    • (2003) Am J Ophthalmol , vol.135 , pp. 461-470
    • Moroi, S.E.1    Gokhale, P.A.2    Schteingart, M.T.3    Sugar, A.4    Downs, C.A.5
  • 13
    • 7444226218 scopus 로고    scopus 로고
    • A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10
    • Shimizu S, Krafchak C, Fuse N, Epstein MP, Schteingart MT, et al. (2004) A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. Am J Med Genet A 130A: 372-377.
    • (2004) Am J Med Genet A , vol.130 A , pp. 372-377
    • Shimizu, S.1    Krafchak, C.2    Fuse, N.3    Epstein, M.P.4    Schteingart, M.T.5
  • 14
    • 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, Sugar A, Lichter PR, et al. (2005) Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet 77: 694-708.
    • (2005) Am J Hum Genet , vol.77 , pp. 694-708
    • Krafchak, C.M.1    Pawar, H.2    Moroi, S.E.3    Sugar, A.4    Lichter, P.R.5
  • 15
    • 35848932106 scopus 로고    scopus 로고
    • Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia
    • Aldave AJ, Yellore VS, Yu F, Bourla N, Sonmez B, et al. (2007) Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A 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    Bourla, N.4    Sonmez, B.5
  • 16
    • 73449124813 scopus 로고    scopus 로고
    • Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population
    • Vincent AL, Niederer RL, Richards A, Karolyi B, Patel DV, et al. (2009) Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population. Mol Vis 15: 2544-2553.
    • (2009) Mol Vis , vol.15 , pp. 2544-2553
    • Vincent, A.L.1    Niederer, R.L.2    Richards, A.3    Karolyi, B.4    Patel, D.V.5
  • 17
    • 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, Davey L, Diplas BH, et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet 86: 45-53.
    • Am J Hum Genet , vol.86 , pp. 45-53
    • Riazuddin, S.A.1    Zaghloul, N.A.2    Al-Saif, A.3    Davey, L.4    Diplas, B.H.5
  • 18
    • 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, Kmoch S, Jirsova K, et al. (2005) Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci 46: 4480-4484.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 4480-4484
    • Gwilliam, R.1    Liskova, P.2    Filipec, M.3    Kmoch, S.4    Jirsova, K.5
  • 19
    • 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, Khan MA, Rayner SA, et al. (2007) Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. Genet Med 9: 228-234.
    • (2007) Genet Med , vol.9 , pp. 228-234
    • Yellore, V.S.1    Papp, J.C.2    Sobel, E.3    Khan, M.A.4    Rayner, S.A.5
  • 21
    • 70349336806 scopus 로고    scopus 로고
    • Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval
    • Aldave AJ, Yellore VS, Vo RC, Kamal KM, Rayner SA, et al. (2009) Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. Cornea 28: 801-807.
    • (2009) Cornea , vol.28 , pp. 801-807
    • Aldave, A.J.1    Yellore, V.S.2    Vo, R.C.3    Kamal, K.M.4    Rayner, S.A.5
  • 22
    • 20444478630 scopus 로고    scopus 로고
    • No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy
    • Yellore VS, Rayner SA, Emmert-Buck L, Tabin GC, Raber I, et al. (2005) No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci 46: 1599-1603.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 1599-1603
    • Yellore, V.S.1    Rayner, S.A.2    Emmert-Buck, L.3    Tabin, G.C.4    Raber, I.5
  • 23
    • 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 (2008) Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. Mol Vis 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
  • 24
    • 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, Hart-Holden N, Perveen R, et al. (2001) Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet 10: 2415-2423.
    • (2001) Hum Mol Genet , vol.10 , pp. 2415-2423
    • Biswas, S.1    Munier, F.L.2    Yardley, J.3    Hart-Holden, N.4    Perveen, R.5
  • 25
    • 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, Jun AS, Broman KW, et al. (2005) Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. Invest Ophthalmol Vis Sci 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    Jun, A.S.4    Broman, K.W.5
  • 26
    • 0037155271 scopus 로고    scopus 로고
    • Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase
    • Shen AL, O'Leary KA, Kasper CB (2002) Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase. J Biol Chem 277: 6536-6541.
    • (2002) J Biol Chem , vol.277 , pp. 6536-6541
    • Shen, A.L.1    O'Leary, K.A.2    Kasper, C.B.3
  • 27
    • 1242342198 scopus 로고    scopus 로고
    • Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1
    • Chow RL, Volgyi B, Szilard RK, Ng D, McKerlie C, et al. (2004) Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1. Proc Natl Acad Sci U S A 101: 1754-1759.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 1754-1759
    • Chow, R.L.1    Volgyi, B.2    Szilard, R.K.3    Ng, D.4    McKerlie, C.5
  • 28
    • 23444448102 scopus 로고    scopus 로고
    • Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye
    • Hopfer U, Fukai N, Hopfer H, Wolf G, Joyce N, et al. (2005) Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye. Faseb J 19: 1232-1244.
    • (2005) Faseb J , vol.19 , pp. 1232-1244
    • Hopfer, U.1    Fukai, N.2    Hopfer, H.3    Wolf, G.4    Joyce, N.5
  • 31
    • 34548827975 scopus 로고    scopus 로고
    • PIAS1 interacts with the KRAB zinc finger protein, ZNF133, via zinc finger motifs and regulates its transcriptional activity
    • Lee S, Lee J, Hahn H, Kim Y, Ahn J, et al. (2007) PIAS1 interacts with the KRAB zinc finger protein, ZNF133, via zinc finger motifs and regulates its transcriptional activity. Exp Mol Med 39: 450-457.
    • (2007) Exp Mol Med , vol.39 , pp. 450-457
    • Lee, S.1    Lee, J.2    Hahn, H.3    Kim, Y.4    Ahn, J.5
  • 32
    • 57749113198 scopus 로고    scopus 로고
    • Human ATAC Is a GCN5/PCAF-containing Acetylase Complex with a Novel NC2-like Histone Fold Module That Interacts with the TATA-binding Protein
    • Wang Y-L, Faiola F, Xu M, Pan S, Martinez E (2008) Human ATAC Is a GCN5/PCAF-containing Acetylase Complex with a Novel NC2-like Histone Fold Module That Interacts with the TATA-binding Protein. Journal of Biological Chemistry 283: 33808-33815.
    • (2008) Journal of Biological Chemistry , vol.283 , pp. 33808-33815
    • Wang, Y.-L.1    Faiola, F.2    Xu, M.3    Pan, S.4    Martinez, E.5
  • 33
    • 61749093728 scopus 로고    scopus 로고
    • The double-histone-acetyltransferase complex ATAC is essential for mammalian development
    • Guelman S, Kozuka K, Mao Y, Pham V, Solloway MJ, et al. (2009) The Double-Histone-Acetyltransferase Complex ATAC Is Essential for Mammalian Development. Mol Cell Biol 29: 1176-1188.
    • (2009) Mol Cell Biol , vol.29 , pp. 1176-1188
    • Guelman, S.1    Kozuka, K.2    Mao, Y.3    Pham, V.4    Solloway, M.J.5
  • 34
    • 63049101157 scopus 로고    scopus 로고
    • The role of the ZEB family of transcription factors in development and disease
    • Vandewalle C, Van Roy F, Berx G (2009) The role of the ZEB family of transcription factors in development and disease. Cellular and Molecular Life Sciences 66: 773-787.
    • (2009) Cellular and Molecular Life Sciences , vol.66 , pp. 773-787
    • Vandewalle, C.1    van Roy, F.2    Berx, G.3
  • 36
    • 0027321548 scopus 로고
    • Derivation of completely cell culture-derived mice from early-passage embryonic stem cells
    • Nagy A, Rossant J, Nagy R, Abramow-Newerly W, Roder JC (1993) Derivation of completely cell culture-derived mice from early-passage embryonic stem cells. Proc Natl Acad Sci U S A 90: 8424-8428.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 8424-8428
    • Nagy, A.1    Rossant, J.2    Nagy, R.3    Abramow-Newerly, W.4    Roder, J.C.5


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