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Volumn 65, Issue 3, 1999, Pages 656-663

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; BINDING AFFINITY; CORNEA EPITHELIUM; DNA SEQUENCE; EYE DISEASE; GENE INSERTION; GENE TARGETING; HUMAN; HUMAN CELL; MISSENSE MUTATION; MORPHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; TRANSACTIVATION; TRANSCRIPTION REGULATION;

EID: 0033362155     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302529     Document Type: Article
Times cited : (117)

References (28)
  • 4
    • 0031969487 scopus 로고    scopus 로고
    • Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies
    • Azuma N, Yamada M (1998b) Missense mutation at the C- terminus of the PAX6 gene in ocular anterior segment anomalies. Invest Ophthalmol Vis Sci 39:828-830
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 828-830
    • Azuma, N.1    Yamada, M.2
  • 5
    • 0026584439 scopus 로고
    • An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
    • Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A (1992) An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355:637-638
    • (1992) Nature , vol.355 , pp. 637-638
    • Baldwin, C.T.1    Hoth, C.F.2    Amos, J.A.3    Da-Silva, E.O.4    Milunsky, A.5
  • 6
    • 0024277960 scopus 로고
    • Undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax-1
    • Balling R, Deutsch U, Gruss P (1988) undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax-1. Cell 55:531-535
    • (1988) Cell , vol.55 , pp. 531-535
    • Balling, R.1    Deutsch, U.2    Gruss, P.3
  • 7
    • 0029155709 scopus 로고
    • Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3
    • Chisholm AD, Horvitz HR (1995) Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3. Nature 377:52-55
    • (1995) Nature , vol.377 , pp. 52-55
    • Chisholm, A.D.1    Horvitz, H.R.2
  • 8
    • 0027426925 scopus 로고
    • DNA sequence recognition by Pax proteins: Bipartite structure of the paired domain and its binding site
    • Czerny T, Schaffner G, Busslinger M (1993) DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site. Genes Dev 7:2048-2061
    • (1993) Genes Dev , vol.7 , pp. 2048-2061
    • Czerny, T.1    Schaffner, G.2    Busslinger, M.3
  • 9
    • 0028239775 scopus 로고
    • Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes
    • Epstein JA, Cai J, Glaser T, Jepeal L, Maas RL (1994a) Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes. J Biol Chem 269:8355-8361
    • (1994) J Biol Chem , vol.269 , pp. 8355-8361
    • Epstein, J.A.1    Cai, J.2    Glaser, T.3    Jepeal, L.4    Maas, R.L.5
  • 10
    • 0028096639 scopus 로고
    • Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing
    • Epstein JA, Glaser T, Cai J, Jepeal L, Walton DS, Maas RI. (1994b) Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev 8:2022-2034
    • (1994) Genes Dev , vol.8 , pp. 2022-2034
    • Epstein, J.A.1    Glaser, T.2    Cai, J.3    Jepeal, L.4    Walton, D.S.5    Maas, R.I.6
  • 11
    • 0028058986 scopus 로고
    • Human haploinsufficiency - One for sorrow, two for joy
    • Fisher E, Scambler P (1994) Human haploinsufficiency - one for sorrow, two for joy. Nat Genet 7:5-7
    • (1994) Nat Genet , vol.7 , pp. 5-7
    • Fisher, E.1    Scambler, P.2
  • 12
    • 0029678243 scopus 로고    scopus 로고
    • The master control gene for morphogenesis and evolution of the eye
    • Gehring WJ (1996) The master control gene for morphogenesis and evolution of the eye. Genes Cells 1:11-15
    • (1996) Genes Cells , vol.1 , pp. 11-15
    • Gehring, W.J.1
  • 13
    • 0026949405 scopus 로고
    • Genomic structure, evolutionary conservation and aniridia mutation in the human PAX6 gene
    • Glaser T, Walton DS, Maas RI. (1992) Genomic structure, evolutionary conservation and aniridia mutation in the human PAX6 gene. Nat Genet 2:232-239
    • (1992) Nat Genet , vol.2 , pp. 232-239
    • Glaser, T.1    Walton, D.S.2    Maas, R.I.3
  • 14
    • 0028308664 scopus 로고
    • Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
    • Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, et al (1994) Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 6:168-173
    • (1994) Nat Genet , vol.6 , pp. 168-173
    • Hanson, I.M.1    Fletcher, J.M.2    Jordan, T.3    Brown, A.4    Taylor, D.5    Adams, R.J.6    Punnett, H.H.7
  • 15
    • 0028294152 scopus 로고
    • Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins
    • Martha A, Ferrell RE, Mintz-Hittner H, Lyons LA, Saunders GF (1994) Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet 54:801-811
    • (1994) Am J Hum Genet , vol.54 , pp. 801-811
    • Martha, A.1    Ferrell, R.E.2    Mintz-Hittner, H.3    Lyons, L.A.4    Saunders, G.F.5
  • 16
    • 0029097307 scopus 로고
    • Mutation of the PAX6 gene in patients with autosomal dominant keratitis
    • Mirzayans F, Pearce WG, MacDonald IM, Walter MA (1995) Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 57:539-548
    • (1995) Am J Hum Genet , vol.57 , pp. 539-548
    • Mirzayans, F.1    Pearce, W.G.2    MacDonald, I.M.3    Walter, M.A.4
  • 17
  • 18
    • 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 (1998) Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants. J Biol Chem 273:21531-21541
    • (1998) J Biol Chem , vol.273 , pp. 21531-21541
    • Singh, S.1    Tang, H.K.2    Lee, J.Y.3    Saunders, G.F.4
  • 20
    • 0031059181 scopus 로고    scopus 로고
    • Functional analysis of paired box missense mutations in the PAX6 gene
    • Tang HK, Chao L, Saunders GF (1997) Functional analysis of paired box missense mutations in the PAX6 gene. Hum Mol Genet 6:381-386
    • (1997) Hum Mol Genet , vol.6 , pp. 381-386
    • Tang, H.K.1    Chao, L.2    Saunders, G.F.3
  • 21
    • 0026602124 scopus 로고
    • Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    • Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T (1992) Waardenburg's syndrome patients have mutations in the human homologue of the Pax- 3 paired box gene. Nature 355:635-636
    • (1992) Nature , vol.355 , pp. 635-636
    • Tassabehji, M.1    Read, A.P.2    Newton, V.E.3    Harris, R.4    Balling, R.5    Gruss, P.6    Strachan, T.7
  • 23
    • 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, Weil MM, Monaghan P, Jordan T, van Heyningen V, et al (1991) Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 67:1059-1074
    • (1991) Cell , vol.67 , pp. 1059-1074
    • Ton, C.C.1    Hirvonen, H.2    Miwa, H.3    Weil, M.M.4    Monaghan, P.5    Jordan, T.6    Van Heyningen, V.7
  • 24
    • 0025884198 scopus 로고
    • The paired box encodes a second DNA-binding domain in the paired bomeo domain protein
    • Treisman J, Harris E, Desplan C (1991) The paired box encodes a second DNA-binding domain in the paired bomeo domain protein. Genes Dev 5:594-604
    • (1991) Genes Dev , vol.5 , pp. 594-604
    • Treisman, J.1    Harris, E.2    Desplan, C.3
  • 25
    • 0027338132 scopus 로고
    • d) mouse murant carries a point mutation within the paired box of the Pax3 gene
    • d) mouse murant carries a point mutation within the paired box of the Pax3 gene. Genomics 17:364-369
    • (1993) Genomics , vol.17 , pp. 364-369
    • Vogan, K.J.1    Epstein, D.J.2    Trasler, D.G.3    Gros, P.4
  • 26
    • 0026340588 scopus 로고
    • Pax6, a murine paired box gene, is expressed in the developing CNS
    • Walther C, Gruss P (1991) Pax6, a murine paired box gene, is expressed in the developing CNS. Development 113: 1435-1449
    • (1991) Development , vol.113 , pp. 1435-1449
    • Walther, C.1    Gruss, P.2
  • 27
    • 0028919759 scopus 로고
    • Crystal structure of a paired dornain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations
    • Xu W, Rould MA, Jun S, Despan C, Pabo CO (1995) Crystal structure of a paired dornain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations. Cell 80:639-650
    • (1995) Cell , vol.80 , pp. 639-650
    • Xu, W.1    Rould, M.A.2    Jun, S.3    Despan, C.4    Pabo, C.O.5
  • 28
    • 0031110157 scopus 로고    scopus 로고
    • Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain
    • Yamaguchi Y, Sawada J, Yamada M, Handa H, Azuma N (1997) Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain. Genes Cells 2:255-261
    • (1997) Genes Cells , vol.2 , pp. 255-261
    • Yamaguchi, Y.1    Sawada, J.2    Yamada, M.3    Handa, H.4    Azuma, N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.