메뉴 건너뛰기




Volumn 50, Issue 12, 2009, Pages 5653-5661

Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 8; COLLAGEN TYPE 8 ALPHA2; GLYCINE; UNCLASSIFIED DRUG; ALKYLATING AGENT; COL82 PROTEIN, MOUSE; ETHYLNITROSOUREA; MICROSATELLITE DNA;

EID: 73349092750     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3550     Document Type: Article
Times cited : (31)

References (54)
  • 1
    • 16344369421 scopus 로고    scopus 로고
    • Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System
    • Lowry RB, Kohut R, Sibbald B, Rouleau J. Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System. Can J Ophthalmol. 2004;40:38-44.
    • (2004) Can J Ophthalmol , vol.40 , pp. 38-44
    • Lowry, R.B.1    Kohut, R.2    Sibbald, B.3    Rouleau, J.4
  • 2
    • 79956261037 scopus 로고    scopus 로고
    • OMIM-Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University and National Center for BioTechnology Information, Accessed July 11, 2009
    • OMIM-Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University and National Center for BioTechnology Information. http://www.ncbi.n-lm.nih.gov/omim/. Accessed July 11, 2009.
  • 3
    • 0344953586 scopus 로고    scopus 로고
    • Mutations in SOX2 cause anophthalmia
    • Fantes J, Ragge NK, Lynch SA, et al. Mutations in SOX2 cause anophthalmia. Nat Genet. 2003;33:461-463.
    • (2003) Nat Genet , vol.33 , pp. 461-463
    • Fantes, J.1    Ragge, N.K.2    Lynch, S.A.3
  • 5
    • 35148812787 scopus 로고    scopus 로고
    • SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
    • Bakrania P, Robinson DO, Bunyan DJ, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2007; 91:1471-1476.
    • (2007) Br J Ophthalmol , vol.91 , pp. 1471-1476
    • Bakrania, P.1    Robinson, D.O.2    Bunyan, D.J.3
  • 7
    • 0027501191 scopus 로고
    • Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: Micro syndrome
    • Warburg M, Sjö O, Fledelius HC, Pedersen SA. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: micro syndrome. Am J Dis Child. 1993;147:1309-1312.
    • (1993) Am J Dis Child , vol.147 , pp. 1309-1312
    • Warburg, M.1    Sjö, O.2    Fledelius, H.C.3    Pedersen, S.A.4
  • 8
    • 0019802934 scopus 로고
    • A case of Marfans syndrome in a black African
    • Menez B. A case of Marfans syndrome in a black African. Med Trop. 1981;41:569-571.
    • (1981) Med Trop , vol.41 , pp. 569-571
    • Menez, B.1
  • 11
    • 20144376966 scopus 로고    scopus 로고
    • Mutations of the catalytic subunit of RABGAP cause Warburg Micro syndrome
    • Aligianis IA, Johnson CA, Gissen P, et al. Mutations of the catalytic subunit of RABGAP cause Warburg Micro syndrome. Nat Genet. 2005;37:221-223.
    • (2005) Nat Genet , vol.37 , pp. 221-223
    • Aligianis, I.A.1    Johnson, C.A.2    Gissen, P.3
  • 12
    • 0025886783 scopus 로고
    • Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
    • Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337-339.
    • (1991) Nature , vol.352 , pp. 337-339
    • Dietz, H.C.1    Cutting, G.R.2    Pyeritz, R.E.3
  • 13
    • 0030946632 scopus 로고    scopus 로고
    • Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chon-drodysplasia punctata
    • Braverman N, Steel G, Obie C, et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chon-drodysplasia punctata. Nat Genet. 1997;15:369-376.
    • (1997) Nat Genet , vol.15 , pp. 369-376
    • Braverman, N.1    Steel, G.2    Obie, C.3
  • 14
    • 0031003680 scopus 로고    scopus 로고
    • Rhizomelic chon-drodysplasia punctata is a peroxisomal protein targeting disease caused by non-functional PTS2 receptor
    • Motley AM, Hettema EH, Hogenhout EM, et al. Rhizomelic chon-drodysplasia punctata is a peroxisomal protein targeting disease caused by non-functional PTS2 receptor. Nat Genet. 1997;15:377-380.
    • (1997) Nat Genet , vol.15 , pp. 377-380
    • Motley, A.M.1    Hettema, E.H.2    Hogenhout, E.M.3
  • 15
    • 1842335689 scopus 로고    scopus 로고
    • Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
    • Purdue PE, Zhang JW, Skoneczny M, Lazarow PB. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet. 1997; 15:381-384.
    • (1997) Nat Genet , vol.15 , pp. 381-384
    • Purdue, P.E.1    Zhang, J.W.2    Skoneczny, M.3    Lazarow, P.B.4
  • 16
    • 0002394285 scopus 로고    scopus 로고
    • Epidemiology and pathophysiology of congenital glaucoma
    • In: Ritch R, Shields BM, Krupin T, eds., Louis: Mosby
    • Dickens CJ, Hoskins HD. Epidemiology and pathophysiology of congenital glaucoma. In: Ritch R, Shields BM, Krupin T, eds. The Glaucomas. St. Louis: Mosby; 1996;729-738.
    • (1996) The Glaucomas. St , pp. 729-738
    • Dickens, C.J.1    Hoskins, H.D.2
  • 17
    • 79956271580 scopus 로고    scopus 로고
    • Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
    • Stoilov I, Akarsu A, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 1997;30:171-177.
    • (1997) Hum Mol Genet , vol.30 , pp. 171-177
    • Stoilov, I.1    Akarsu, A.2    Sarfarazi, M.3
  • 20
    • 0028920939 scopus 로고
    • Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis
    • Tahvanainen E, Forsius H, Karila E, et al. Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics. 1995;26:290-293.
    • (1995) Genomics , vol.26 , pp. 290-293
    • Tahvanainen, E.1    Forsius, H.2    Karila, E.3
  • 21
    • 0034117963 scopus 로고    scopus 로고
    • Mutation in KERA, encoding keratocan, cause cornea plana
    • Pellegata NS, Dieguez-Lucena JL, Joensuu T, et al. Mutation in KERA, encoding keratocan, cause cornea plana. Nat Genet. 2000; 25:91-95.
    • (2000) Nat Genet , vol.25 , pp. 91-95
    • Pellegata, N.S.1    Dieguez-Lucena, J.L.2    Joensuu, T.3
  • 22
    • 0035650579 scopus 로고    scopus 로고
    • A novel keratocan mutation causing autosomal recessive cornea plana
    • Lehmann OJ, El-ashry MF, Ebenezer MD, et al. A novel keratocan mutation causing autosomal recessive cornea plana. Invest Oph-thalmol Vis Sci. 2001;42:3118-3122.
    • (2001) Invest Oph-thalmol Vis Sci , vol.42 , pp. 3118-3122
    • Lehmann, O.J.1    El-Ashry, M.F.2    Ebenezer, M.D.3
  • 23
    • 6344260156 scopus 로고    scopus 로고
    • A novel KERA mutation associated with autosomal recessive cornea plana
    • Khan A, Al-Saif A, Kambouris M. A novel KERA mutation associated with autosomal recessive cornea plana. Ophthalmic Genet. 2004; 25:147-152.
    • (2004) Ophthalmic Genet , vol.25 , pp. 147-152
    • Khan, A.1    Al-Saif, A.2    Kambouris, M.3
  • 24
    • 36549019141 scopus 로고    scopus 로고
    • Keratoglobus in association with posterior polymorphous dystrophy
    • Harissi-Dagher M, Dana MR, Jurkunas UV. Keratoglobus in association with posterior polymorphous dystrophy. Cornea. 2007;26: 1288-1291.
    • (2007) Cornea , vol.26 , pp. 1288-1291
    • Harissi-Dagher, M.1    Dana, M.R.2    Jurkunas, U.V.3
  • 25
    • 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
  • 26
    • 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;143A:2549-2556.
    • (2007) Am J Med Genet A , vol.143 A , pp. 2549-2556
    • Aldave, A.J.1    Yellore, V.S.2    Yu, F.3
  • 27
    • 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
  • 29
    • 0035504694 scopus 로고    scopus 로고
    • Missense mutations in COL8A2, the gene encoding the a2 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 a2 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
  • 30
    • 65349126473 scopus 로고    scopus 로고
    • Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients
    • Mok JW, Kim HS, Joo CK. Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. Eye. 2008; 23:895-903
    • (2008) Eye , vol.23 , pp. 895-903
    • Mok, J.W.1    Kim, H.S.2    Joo, C.K.3
  • 32
    • 0028880039 scopus 로고
    • Assignment of a locus (GLCA3) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity
    • Sarfarazi M, Akarsu AN, Hossain A, et al. Assignment of a locus (GLCA3) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics. 1995;30:171-177.
    • (1995) Genomics , vol.30 , pp. 171-177
    • Sarfarazi, M.1    Akarsu, A.N.2    Hossain, A.3
  • 33
    • 0029942356 scopus 로고    scopus 로고
    • Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12
    • Tahvanainen E, Villanueva AS, Forsius H, Salo P, de la Chapelle A. Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. Genome Res. 1996; 6:249-254.
    • (1996) Genome Res , vol.6 , pp. 249-254
    • Tahvanainen, E.1    Villanueva, A.S.2    Forsius, H.3    Salo, P.4    de la Chapelle, A.5
  • 34
    • 0034425715 scopus 로고    scopus 로고
    • Genomewide, large-scale production of mutant mice by ENU mutagenesis
    • Hrabe de Angelis M, Flaswinkel H, Fuchs H, et al. Genomewide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet. 2000;25:444-447.
    • (2000) Nat Genet , vol.25 , pp. 444-447
    • de Angelis, M.H.1    Flaswinkel, H.2    Fuchs, H.3
  • 35
    • 33747151091 scopus 로고    scopus 로고
    • Variations of eye size parameters among different strains of mice
    • Puk O, Dalke C, Favor J, Hrabe de Angelis M, Graw J. Variations of eye size parameters among different strains of mice. Mamm Gen. 2006;17:851-857.
    • (2006) Mamm Gen , vol.17 , pp. 851-857
    • Puk, O.1    Dalke, C.2    Favor, J.3    de Angelis, M.H.4    Graw, J.5
  • 36
    • 0022256847 scopus 로고
    • Induction of gene mutations in mice: The multiple endpoint approach
    • Ehling UH, Charles DJ, Favor J, et al. Induction of gene mutations in mice: the multiple endpoint approach. Mutat Res. 1985;150: 393-401.
    • (1985) Mutat Res , vol.150 , pp. 393-401
    • Ehling, U.H.1    Charles, D.J.2    Favor, J.3
  • 37
    • 3242809001 scopus 로고    scopus 로고
    • In vivo biometry in the mouse eye with low coherence interferometry
    • Schmucker C, Schaeffel F. In vivo biometry in the mouse eye with low coherence interferometry. Vis Res. 2004;44:2445-2456.
    • (2004) Vis Res , vol.44 , pp. 2445-2456
    • Schmucker, C.1    Schaeffel, F.2
  • 38
    • 9444222740 scopus 로고    scopus 로고
    • Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system
    • Prusky GT, Alam NM, Beekman S, Douglas RM. Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system. Invest Ophthalmol Vis Sci. 2004;45:4611-4616.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 4611-4616
    • Prusky, G.T.1    Alam, N.M.2    Beekman, S.3    Douglas, R.M.4
  • 39
    • 0032447632 scopus 로고    scopus 로고
    • Aphakia (ak), a mouse mutation affecting early eye development: Fine mapping, consideration of candidate genes, and altered Pax6 and Six3 expression pattern
    • Grimm C, Chatterjee B, Favor J, et al. Aphakia (ak), a mouse mutation affecting early eye development: fine mapping, consideration of candidate genes, and altered Pax6 and Six3 expression pattern. Dev Genet. 1998;23:299-316.
    • (1998) Dev Genet , vol.23 , pp. 299-316
    • Grimm, C.1    Chatterjee, B.2    Favor, J.3
  • 40
    • 33947427179 scopus 로고    scopus 로고
    • A comprehensive antibody panel for immunohistochemical analysis of formalin-fixed, paraffin-embedded hematopoietic neoplasms of mice: Analysis of mouse specific and human antibodies cross-reactive with murine tissue
    • Kunder S, Calzada-Wack J, Holzlwimmer G, et al. A comprehensive antibody panel for immunohistochemical analysis of formalin-fixed, paraffin-embedded hematopoietic neoplasms of mice: analysis of mouse specific and human antibodies cross-reactive with murine tissue. Toxicol Pathol. 2007;35:366-375
    • (2007) Toxicol Pathol , vol.35 , pp. 366-375
    • Kunder, S.1    Calzada-Wack, J.2    Holzlwimmer, G.3
  • 42
    • 0041691017 scopus 로고    scopus 로고
    • A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome
    • Hansen J, Floss T, Van Sloun P, et al. A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Proc Natl Acad Sci USA. 2003;100:9918-9922.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 9918-9922
    • Hansen, J.1    Floss, T.2    van Sloun, P.3
  • 43
    • 22144445323 scopus 로고    scopus 로고
    • Inheritance of a novel COL8A2 mutation defines a distinct subtype of Fuchs corneal dystrophy
    • Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct 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
  • 44
    • 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
  • 45
  • 46
    • 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, et al. Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye. FASEB J. 2005;19:1232-1244.
    • (2005) FASEB J , vol.19 , pp. 1232-1244
    • Hopfer, U.1    Fukai, N.2    Hopfer, H.3
  • 47
    • 0003114819 scopus 로고
    • Type VIII collagen
    • In: Mayne R, Burgeson RE, eds., New York: Academic Press
    • Sage H, Bornstein P. Type VIII collagen. In: Mayne R, Burgeson RE, eds. Structure and Function of Collagen Types. New York: Academic Press; 1990;173-193.
    • (1990) Structure and Function of Collagen Types , pp. 173-193
    • Sage, H.1    Bornstein, P.2
  • 48
  • 50
    • 0025117435 scopus 로고
    • Characterization of the collagen in the hexagonal lattice of Descemet's membrane: Its relation to type VIII collagen
    • Sawada H, Konomi H, Hirosawa K. Characterization of the collagen in the hexagonal lattice of Descemet's membrane: its relation to type VIII collagen. J Cell Biol. 1990;110:219-227.
    • (1990) J Cell Biol , vol.110 , pp. 219-227
    • Sawada, H.1    Konomi, H.2    Hirosawa, K.3
  • 51
    • 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
  • 54
    • 73649086138 scopus 로고    scopus 로고
    • The mouse as a model for myopia, and optics of its eye
    • In: Chalupa LM, Williams RW, eds., Boston: MIT Press
    • Schaffel F. The mouse as a model for myopia, and optics of its eye. In: Chalupa LM, Williams RW, eds. Eye, Retina, and Visual System of the Mouse. Boston: MIT Press; 2008;73-85.
    • (2008) Eye, Retina, and Visual System of the Mouse , pp. 73-85
    • Schaffel, F.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.