메뉴 건너뛰기




Volumn 50, Issue 6, 2009, Pages 2581-2590

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6; EYE PROTEIN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

EID: 66849103748     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-2827     Document Type: Article
Times cited : (151)

References (36)
  • 3
    • 34548417177 scopus 로고    scopus 로고
    • PAX6 and SOX2-dependent regulation of the Sox2 enhancer N-3 involved in embryonic visual system development
    • Inoue M, Kamachi Y, Matsunami H, et al. PAX6 and SOX2-dependent regulation of the Sox2 enhancer N-3 involved in embryonic visual system development, Genes Cells 2007;12(9):1049-1061
    • (2007) Genes Cells , vol.12 , Issue.9 , pp. 1049-1061
    • Inoue, M.1    Kamachi, Y.2    Matsunami, H.3
  • 4
    • 0035815295 scopus 로고    scopus 로고
    • Pax6 is required for the multipotent state of retinal progenitor cells
    • Marquardt T, Ashery-Padan R, Andrejewski N, et al. Pax6 is required for the multipotent state of retinal progenitor cells, Cell 2001;105(1):43-55
    • (2001) Cell , vol.105 , Issue.1 , pp. 43-55
    • Marquardt, T.1    Ashery-Padan, R.2    Andrejewski, N.3
  • 5
    • 0035873448 scopus 로고    scopus 로고
    • Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development
    • Kamachi Y, Uchikawa M, Tanouchi A, Sekido R, Kondoh H Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development, Genes Dev 2001;15(10):1272-1286
    • (2001) Genes Dev , vol.15 , Issue.10 , pp. 1272-1286
    • Kamachi, Y.1    Uchikawa, M.2    Tanouchi, A.3    Sekido, R.4    Kondoh, H.5
  • 6
    • 55449128397 scopus 로고    scopus 로고
    • O'Keefe M Aniridia: Current pathology and management
    • Lee H, Khan R, O'Keefe M Aniridia: current pathology and management, Acta Ophthalmol 2008;86(7):708-715
    • (2008) Acta Ophthalmol , vol.86 , Issue.7 , pp. 708-715
    • Lee, H.1    Khan, R.2
  • 7
    • 0034938449 scopus 로고    scopus 로고
    • PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
    • Sisodiya SM, Free SL, Williamson KA, et al. PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans, Nat Genet 2001;28(3):214-216
    • (2001) Nat Genet , vol.28 , Issue.3 , pp. 214-216
    • Sisodiya, S.M.1    Free, S.L.2    Williamson, K.A.3
  • 8
    • 0037739999 scopus 로고    scopus 로고
    • Polymicrogyria and absence of pineal gland due to PAX6 mutation
    • Mitchell TN, Free SL, Williamson KA, et al. Polymicrogyria and absence of pineal gland due to PAX6 mutation, Ann Neurol 2003;53(5):658-663
    • (2003) Ann Neurol , vol.53 , Issue.5 , pp. 658-663
    • Mitchell, T.N.1    Free, S.L.2    Williamson, K.A.3
  • 9
    • 0035697310 scopus 로고    scopus 로고
    • Molecular characterization of Pax6(2Neu) through Pax6(10Neu): An extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse
    • Favor J, Peters H, Hermann T, et al. Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse, Mus musculus Genetics 2001;159(4):1689-1700
    • (2001) Mus Musculus Genetics , vol.159 , Issue.4 , pp. 1689-1700
    • Favor, J.1    Peters, H.2    Hermann, T.3
  • 11
    • 25444528475 scopus 로고    scopus 로고
    • Hanson IM PAX6 mutations: Genotype-phenotype correlations
    • Tzoulaki I, White IM, Hanson IM PAX6 mutations: genotype-phenotype correlations, BMC Genet 2005;6(1):27
    • (2005) BMC Genet , vol.6 , Issue.1 , pp. 27
    • Tzoulaki, I.1    White, I.M.2
  • 12
    • 33644789122 scopus 로고    scopus 로고
    • Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different con-sequences at target promoters
    • Graw J, Loster J, Puk O, et al. Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different con-sequences at target promoters, Invest Ophthalmol Vis Sci 2005; 46(12):4671-4683
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , Issue.12 , pp. 4671-4683
    • Graw, J.1    Loster, J.2    Puk, O.3
  • 13
    • 33749057696 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
    • Khajavi M, Inoue K, Lupski JR Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease, Eur J Hum Genet 2006;14(10):1074-1081
    • (2006) Eur J Hum Genet , vol.14 , Issue.10 , pp. 1074-1081
    • Khajavi, M.1    Inoue, K.2    Lupski, J.R.3
  • 14
    • 52049122795 scopus 로고    scopus 로고
    • Relationship of Pax6 activity levels to the extent of eye development in the mouse
    • Favor J, Gloeckner CJ, Neuhaeuser-Klaus A, et al. Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus Genetics 2008;179(3):1345-1355
    • (2008) Mus Musculus Genetics , vol.179 , Issue.3 , pp. 1345-1355
    • Favor, J.1    Gloeckner, C.J.2    Neuhaeuser-Klaus, A.3
  • 15
    • 0026315044 scopus 로고
    • Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region
    • Ton CC, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region, Cell 1991;67(6):1059-1074
    • (1991) Cell , vol.67 , Issue.6 , pp. 1059-1074
    • Ton, C.C.1    Hirvonen, H.2    Miwa, H.3
  • 16
    • 0032555505 scopus 로고    scopus 로고
    • Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants
    • Singh S, Tang HK, Lee JY, Saunders GF Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants, J Biol Chem 1998;273(34):21531-21541
    • (1998) J Biol Chem , vol.273 , Issue.34 , pp. 21531-21541
    • Singh, S.1    Tang, H.K.2    Lee, J.Y.3    Saunders, G.F.4
  • 17
    • 0033952632 scopus 로고    scopus 로고
    • Truncated forms of Pax-6 disrupt lens morphology in transgenic mice
    • Duncan MK, Cvekl A, Li X, Piatigorsky J Truncated forms of Pax-6 disrupt lens morphology in transgenic mice, Invest Ophthalmol Vis Sci 2000;41(2):464-473
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , Issue.2 , pp. 464-473
    • Duncan, M.K.1    Cvekl, A.2    Li, X.3    Piatigorsky, J.4
  • 18
    • 0028308664 scopus 로고
    • Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including
    • Hanson IM, Fletcher JM, Jordan T, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including, Peters' anomaly Nat Genet 1994;6(2):168-173
    • (1994) Peters' Anomaly Nat Genet , vol.6 , Issue.2 , pp. 168-173
    • Hanson, I.M.1    Fletcher, J.M.2    Jordan, T.3
  • 20
    • 0032899711 scopus 로고    scopus 로고
    • Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
    • Hanson I, Churchill A, Love J, et al. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations, Hum Mol Genet 1999;8(2): 165-172
    • (1999) Hum Mol Genet , vol.8 , Issue.2 , pp. 165-172
    • Hanson, I.1    Churchill, A.2    Love, J.3
  • 21
    • 0038353669 scopus 로고    scopus 로고
    • Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations
    • Azuma N, Yamaguchi Y, Handa H, et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations, Am J Hum Genet 2003;72(6):1565-1570
    • (2003) Am J Hum Genet , vol.72 , Issue.6 , pp. 1565-1570
    • Azuma, N.1    Yamaguchi, Y.2    Handa, H.3
  • 22
    • 49149126979 scopus 로고    scopus 로고
    • Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes
    • Sharan S, Mirzayans F, Footz T, Walter M, Levin AV Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes, J AAPOS 2008;12(4):340-343
    • (2008) J AAPOS , vol.12 , Issue.4 , pp. 340-343
    • Sharan, S.1    Mirzayans, F.2    Footz, T.3    Walter, M.4    Levin, A.V.5
  • 23
    • 0031059181 scopus 로고    scopus 로고
    • Functional analysis of paired box missense mutations in the PAX6 gene
    • Tang HK, Chao LY, Saunders GF Functional analysis of paired box missense mutations in the PAX6 gene, Hum Mol Genet 1997;6(3): 381-386
    • (1997) Hum Mol Genet , vol.6 , Issue.3 , pp. 381-386
    • Tang, H.K.1    Chao, L.Y.2    Saunders, G.F.3
  • 24
    • 21044452878 scopus 로고    scopus 로고
    • Heterozygous mutations of OTX2 cause severe ocular malformations
    • Ragge NK, Brown AG, Poloschek CM, et al. Heterozygous mutations of OTX2 cause severe ocular malformations, Am J Hum Genet 2005;76(6):1008-1022
    • (2005) Am J Hum Genet , vol.76 , Issue.6 , pp. 1008-1022
    • Ragge, N.K.1    Brown, A.G.2    Poloschek, C.M.3
  • 25
    • 0036153367 scopus 로고    scopus 로고
    • National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology
    • Morrison D, FitzPatrick D, Hanson I, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology, J Med Genet 2002;39(1):16-22
    • (2002) J Med Genet , vol.39 , Issue.1 , pp. 16-22
    • Morrison, D.1    Fitzpatrick, D.2    Hanson, I.3
  • 26
    • 0033987736 scopus 로고    scopus 로고
    • Antonarakis SE Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion, Hum Mutat 2000;15(1):7-12
    • (2000) Hum Mutat , vol.15 , Issue.1 , pp. 7-12
    • den Dunnen, J.T.1
  • 28
    • 34248178260 scopus 로고    scopus 로고
    • Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations
    • Bamiou DE, Free SL, Sisodiya SM, et al. Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations, Arch Pediatr Adolesc Med 2007;161(5):463-469
    • (2007) Arch Pediatr Adolesc Med , vol.161 , Issue.5 , pp. 463-469
    • Bamiou, D.E.1    Free, S.L.2    Sisodiya, S.M.3
  • 29
    • 0344731080 scopus 로고    scopus 로고
    • Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding
    • Xu HE, Rould MA, Xu W, et al. Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding, Genes Dev 1999;13(10):1263-1275
    • (1999) Genes Dev , vol.13 , Issue.10 , pp. 1263-1275
    • Xu, H.E.1    Rould, M.A.2    Xu, W.3
  • 32
    • 0141481132 scopus 로고    scopus 로고
    • Gal A Hereditary foveal hypoplasia: Clinical differentiation
    • Schroeder HW, Orth U, Meyer-König E, Gal A Hereditary foveal hypoplasia: clinical differentiation, Klin Monatsbl Augenheilkd 2003;220(8):559-562
    • (2003) Klin Monatsbl Augenheilkd , vol.220 , Issue.8 , pp. 559-562
    • Schroeder, H.W.1    Orth, U.2    Meyer-König, E.3
  • 35
    • 33947330375 scopus 로고    scopus 로고
    • Development of the retinal vasculature
    • Fruttiger M Development of the retinal vasculature, Angiogenesis 2007;10(2):77-88
    • (2007) Angiogenesis , vol.10 , Issue.2 , pp. 77-88
    • Fruttiger, M.1
  • 36
    • 33750430869 scopus 로고    scopus 로고
    • Corneal avascularity is due to soluble VEGF receptor-1
    • Ambati BK, Nozaki M, Singh N, et al. Corneal avascularity is due to soluble VEGF receptor-1, Nature 2006;443(7114):993-997
    • (2006) Nature , vol.443 , Issue.7114 , pp. 993-997
    • Ambati, B.K.1    Nozaki, M.2    Singh, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.