메뉴 건너뛰기




Volumn 42, Issue 12, 2006, Pages 1113-1117

Study of genetic mutation locus in a family with congenital aniridia

Author keywords

Aniridia; DNA binding proteins; Mutation; Pedigree; Transcription factors

Indexed keywords

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

EID: 33846986809     PISSN: 04124081     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (16)
  • 1
    • 14644421608 scopus 로고    scopus 로고
    • Mutation analysis of PAX6 gene in a large Chinese family with aniridia
    • Song SJ, Liu YZ, Cong RC, et al. Mutation analysis of PAX6 gene in a large Chinese family with aniridia. Chin Med J(Engl) 2005, 118:302-306.
    • (2005) Chin Med J(Engl) , vol.118 , pp. 302-306
    • Song, S.J.1    Liu, Y.Z.2    Cong, R.C.3
  • 2
    • 0026949405 scopus 로고
    • Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
    • Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet, 1992,2:232-239.
    • (1992) Nat Genet , vol.2 , pp. 232-239
    • Glaser, T.1    Walton, D.S.2    Maas, R.L.3
  • 3
    • 33846999808 scopus 로고    scopus 로고
    • Chinese source
    • Chinese source.
  • 4
    • 0031801550 scopus 로고    scopus 로고
    • A new set of primers for mutation analysis of the human PAX6 gene
    • Love J, Axton R, Churchill A, et al. A new set of primers for mutation analysis of the human PAX6 gene. Hum Mutat, 1998,12: 128-134.
    • (1998) Hum Mutat , vol.12 , pp. 128-134
    • Love, J.1    Axton, R.2    Churchill, A.3
  • 5
    • 0037147118 scopus 로고    scopus 로고
    • PAX6, paired domain influence sequence recognition by the homeodomain
    • Mishra R, Goriov IP, Chao LY, et al. PAX6, paired domain influence sequence recognition by the homeodomain. J Biol Chem, 2002,277:49488-49494.
    • (2002) J Biol Chem , vol.277 , pp. 49488-49494
    • Mishra, R.1    Goriov, I.P.2    Chao, L.Y.3
  • 6
    • 0029678243 scopus 로고    scopus 로고
    • The master control gene for morphogenesis and evolution of the eye
    • Wehring WJ. The master control gene for morphogenesis and evolution of the eye. Genes Cell, 1996,1:11-15.
    • (1996) Genes Cell , vol.1 , pp. 11-15
    • Wehring, W.J.1
  • 7
    • 0038648564 scopus 로고    scopus 로고
    • Three novel PAX6 mutations in patiens with aniridia
    • Zumkertter W, Orth U, Gai A. Three novel PAX6 mutations in patiens with aniridia. J Clin Pathol, 2003,56:180-183.
    • (2003) J Clin Pathol , vol.56 , pp. 180-183
    • Zumkertter, W.1    Orth, U.2    Gai, A.3
  • 8
    • 0038353669 scopus 로고    scopus 로고
    • Mutations of the PAX6 gene detectd in patients with a variety of optic-nerve malformations
    • Azuma N, Yamaguchi Y, Hands H, et al. Mutations of the PAX6 gene detectd in patients with a variety of optic-nerve malformations. Am J Hum Genet, 2003,72:1565-1570.
    • (2003) Am J Hum Genet , vol.72 , pp. 1565-1570
    • Azuma, N.1    Yamaguchi, Y.2    Hands, H.3
  • 9
    • 0031059181 scopus 로고    scopus 로고
    • Functional analysis of paired box missense mutations in the PAX6 gene
    • Tang HK, Chao L, Saunders GF. Functional analysis of paired box missense mutations in the PAX6 gene. Hum Mol Genet, 1997,6: 381-386.
    • (1997) Hum Mol Genet , vol.6 , pp. 381-386
    • Tang, H.K.1    Chao, L.2    Saunders, G.F.3
  • 10
    • 0031110157 scopus 로고    scopus 로고
    • Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired do-main
    • Yamaguchi Y, Sawada J, Yamada M, et al. Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired do-main. Genes Cells, 1997,2:255-261.
    • (1997) Genes Cells , vol.2 , pp. 255-261
    • Yamaguchi, Y.1    Sawada, J.2    Yamada, M.3
  • 11
    • 0029097307 scopus 로고
    • Mutation of the PAX6 gene in patients with autosomal dominant keratitis
    • Mirzayans F, Pearce WG, MacDonald IM, et al. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet, 1995,57:539-548.
    • (1995) Am J Hum Genet , vol.57 , pp. 539-548
    • Mirzayans, F.1    Pearce, W.G.2    MacDonald, I.M.3
  • 12
    • 0030162151 scopus 로고    scopus 로고
    • PAX6 missense mutation in isolated foveal hypoplasia
    • Azuma N, Nishina S, Yanagisawa H, et al. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet, 1996, 13:141-142.
    • (1996) Nat Genet , vol.13 , pp. 141-142
    • Azuma, N.1    Nishina, S.2    Yanagisawa, H.3
  • 13
    • 0031969487 scopus 로고    scopus 로고
    • Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies
    • Azuma N, Yamada M. Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies. Invest Ophthalmol Vis Sci, 1998,39:828-830.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 828-830
    • Azuma, N.1    Yamada, M.2
  • 14
    • 0031736378 scopus 로고    scopus 로고
    • Missense mutations in the PAX6 gene in aniridia
    • Azuma N, Hotta Y, Tanaka H, et al. Missense mutations in the PAX6 gene in aniridia. Invest Ophthalmol Vis Sci, 1998,39:2524-2528.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 2524-2528
    • Azuma, N.1    Hotta, Y.2    Tanaka, H.3
  • 15
    • 0028058986 scopus 로고
    • Human hapioinsufficiency-one for sorrow, two for joy
    • Fisher E, Scambier P. Human hapioinsufficiency-one for sorrow, two for joy. Nat Genet, 1994,7:5-7.
    • (1994) Nat Genet , vol.7 , pp. 5-7
    • Fisher, E.1    Scambier, P.2
  • 16
    • 0027930357 scopus 로고
    • Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins
    • Martha A, Ferrell RE, Mintz-Hittner H, et al. Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet, 1994,55:602.
    • (1994) Am J Hum Genet , vol.55 , pp. 602
    • Martha, A.1    Ferrell, R.E.2    Mintz-Hittner, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.