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Volumn 28, Issue 3, 2007, Pages 179-182

PAX6 mutations may be associated with high myopia

Author keywords

Aniridia; Cataract; Hypermetropia; Myopia

Indexed keywords

GENE PRODUCT; TRANSCRIPTION FACTOR PAX6;

EID: 34848888632     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701356676     Document Type: Article
Times cited : (55)

References (24)
  • 1
    • 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
  • 2
    • 0027965633 scopus 로고
    • Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans
    • Quiring R, Walldorf U, Kloter U, Gehring WJ. Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. Science. 1994;265(5173):785-789.
    • (1994) Science , vol.265 , Issue.5173 , pp. 785-789
    • Quiring, R.1    Walldorf, U.2    Kloter, U.3    Gehring, W.J.4
  • 3
    • 0037147118 scopus 로고    scopus 로고
    • PAX6, paired domain influences sequence recognition by the homeodomain
    • Mishra R, Gorlov IP, Chao LY, Singh S, Saunders GF. PAX6, paired domain influences sequence recognition by the homeodomain. J Biol Chem. 2002;277(51):49488-49494.
    • (2002) J Biol Chem , vol.277 , Issue.51 , pp. 49488-49494
    • Mishra, R.1    Gorlov, I.P.2    Chao, L.Y.3    Singh, S.4    Saunders, G.F.5
  • 4
    • 0026907123 scopus 로고
    • The human PAX6 gene is mutated in two patients with aniridia
    • Jordan T, Hanson I, Zaletayev D et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet. 1992;1(5):328-332.
    • (1992) Nat Genet , vol.1 , Issue.5 , pp. 328-332
    • Jordan, T.1    Hanson, I.2    Zaletayev, D.3
  • 5
    • 0028308664 scopus 로고
    • Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
    • 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) Nat Genet , vol.6 , Issue.2 , pp. 168-173
    • Hanson, I.M.1    Fletcher, J.M.2    Jordan, T.3
  • 6
    • 0029097307 scopus 로고
    • Mutation of the PAX6 gene in patients with autosomal dominant keratitis
    • Mirzayans F, Pearce WG, MacDonald IM, Walter MA. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet.1995;57(3):539-548.
    • (1995) Am J Hum Genet , vol.57 , Issue.3 , pp. 539-548
    • Mirzayans, F.1    Pearce, W.G.2    MacDonald, I.M.3    Walter, M.A.4
  • 7
    • 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
  • 8
    • 3242656225 scopus 로고    scopus 로고
    • A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: A genomewide scan of dizygotic twins
    • Hammond CJ, Andrew T, Mak YT, Spector TD. A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: A genomewide scan of dizygotic twins. Am J Hum Genet. 2004;75(2):294-304.
    • (2004) Am J Hum Genet , vol.75 , Issue.2 , pp. 294-304
    • Hammond, C.J.1    Andrew, T.2    Mak, Y.T.3    Spector, T.D.4
  • 9
    • 33645100901 scopus 로고    scopus 로고
    • Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients
    • Atchaneeyasakul LO, Trinavarat A, Dulayajinda D et al. Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. Ophthalmic Genet. 2006;27(1):21-27.
    • (2006) Ophthalmic Genet , vol.27 , Issue.1 , pp. 21-27
    • Atchaneeyasakul, L.O.1    Trinavarat, A.2    Dulayajinda, D.3
  • 11
    • 0036777143 scopus 로고    scopus 로고
    • Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene
    • Sale MM, Craig JE, Charlesworth JC et al. Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. Hum Mutat. 2002;20(4):322.
    • (2002) Hum Mutat , vol.20 , Issue.4 , pp. 322
    • Sale, M.M.1    Craig, J.E.2    Charlesworth, J.C.3
  • 12
    • 25444528475 scopus 로고    scopus 로고
    • 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    Hanson, I.M.3
  • 14
    • 33644789122 scopus 로고    scopus 로고
    • Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences 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 consequences 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
  • 15
    • 0017324333 scopus 로고
    • Myopia in the lidsutured tree shrew (Tupaia glis)
    • Sherman SM, Norton TT, Casagrande VA. Myopia in the lidsutured tree shrew (Tupaia glis). Brain Res. 1977;124(1):154-157.
    • (1977) Brain Res , vol.124 , Issue.1 , pp. 154-157
    • Sherman, S.M.1    Norton, T.T.2    Casagrande, V.A.3
  • 16
    • 0017333510 scopus 로고
    • Myopia and eye enlargement after neonatal lid fusion in monkeys
    • Wiesel TN, Raviola E. Myopia and eye enlargement after neonatal lid fusion in monkeys. Nature. 1977;266(5597):66-68.
    • (1977) Nature , vol.266 , Issue.5597 , pp. 66-68
    • Wiesel, T.N.1    Raviola, E.2
  • 17
    • 18644381267 scopus 로고    scopus 로고
    • Pax-6 expression in posthatch chick retina during and recovery from form-deprivation myopia
    • Bhat SP, Rayner SA, Chau SC, Ariyasu RG. Pax-6 expression in posthatch chick retina during and recovery from form-deprivation myopia. Dev Neurosci. 2004;26(5-6):328-335.
    • (2004) Dev Neurosci , vol.26 , Issue.5-6 , pp. 328-335
    • Bhat, S.P.1    Rayner, S.A.2    Chau, S.C.3    Ariyasu, R.G.4
  • 18
    • 0021882569 scopus 로고
    • Corneal diameter and axial length in congenital glaucoma
    • Kiskis AA, Markowitz SN, Morin JD. Corneal diameter and axial length in congenital glaucoma. Can J Ophthalmol. 1985;20(3):93-97.
    • (1985) Can J Ophthalmol , vol.20 , Issue.3 , pp. 93-97
    • Kiskis, A.A.1    Markowitz, S.N.2    Morin, J.D.3
  • 19
    • 0026345992 scopus 로고
    • Mouse small eye results from mutations in a paired-like homeobox-containing gene
    • Hill RE, Favor J, Hogan BL et al. Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature. 1991;354(6354):522- 525.
    • (1991) Nature , vol.354 , Issue.6354 , pp. 522-525
    • Hill, R.E.1    Favor, J.2    Hogan, B.L.3
  • 20
    • 0033943851 scopus 로고    scopus 로고
    • A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia
    • Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia. Graefes Arch Clin Exp Ophthalmol. 2000;238(7):552-558.
    • (2000) Graefes Arch Clin Exp Ophthalmol , vol.238 , Issue.7 , pp. 552-558
    • Sonoda, S.1    Isashiki, Y.2    Tabata, Y.3    Kimura, K.4    Kakiuchi, T.5    Ohba, N.6
  • 21
    • 11144339384 scopus 로고    scopus 로고
    • Long-range control of gene expression: Emerging mechanisms and disruption in disease
    • Kleinjan DA, van Heyningen V. Long-range control of gene expression: Emerging mechanisms and disruption in disease. Am J Hum Genet. 2005;76(1):8-32.
    • (2005) Am J Hum Genet , vol.76 , Issue.1 , pp. 8-32
    • Kleinjan, D.A.1    van Heyningen, V.2
  • 22
    • 33747151091 scopus 로고    scopus 로고
    • Variations of eye size parameters among different strains of mice
    • Puk O, Dalke C, Favor J, de Angelis MH, Graw J. Variations of eye size parameters among different strains of mice. Mamm Genome. 2006;17(8):851-857.
    • (2006) Mamm Genome , vol.17 , Issue.8 , pp. 851-857
    • Puk, O.1    Dalke, C.2    Favor, J.3    de Angelis, M.H.4    Graw, J.5
  • 23
    • 11144355855 scopus 로고    scopus 로고
    • A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q
    • Zhu G, Evans DM, Duffy DL et al. A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q. Twin Res. 2004;7(2):197-210.
    • (2004) Twin Res , vol.7 , Issue.2 , pp. 197-210
    • Zhu, G.1    Evans, D.M.2    Duffy, D.L.3
  • 24
    • 0027509280 scopus 로고
    • A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
    • Rinchik EM, Bultman SJ, Horsthemke B et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993;361(6407):72-76.
    • (1993) Nature , vol.361 , Issue.6407 , pp. 72-76
    • Rinchik, E.M.1    Bultman, S.J.2    Horsthemke, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.