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Volumn 17, Issue , 2011, Pages 1249-1253

A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 10Q; CLINICAL ARTICLE; CODON; CONGENITAL CATARACT; CONGENITAL POSTERIOR POLAR CATARACT; CONTROLLED STUDY; FAMILY STUDY; GENE; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC MARKER; HAPLOTYPE; HUMAN; HUMAN GENOME; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MULTIGENE FAMILY; PAIRED LIKE HOMEODOMAIN 3 GENE; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79957488343     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (21)

References (20)
  • 2
    • 0242322773 scopus 로고    scopus 로고
    • The genetic and molecular basis of congenital eye defects
    • [PMID: 14634635]
    • Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet 2003; 4:876-88. [PMID: 14634635]
    • (2003) Nat Rev Genet , vol.4 , pp. 876-888
    • Graw, J.1
  • 3
    • 78149488289 scopus 로고    scopus 로고
    • Cat-Map: Putting cataract on the map
    • [PMID: 21042563]
    • Shiels A, Bennett TM, Hejtmancik JF. Cat-Map: putting cataract on the map. Mol Vis 2010; 16:2007-15. [PMID: 21042563]
    • (2010) Mol Vis , vol.16 , pp. 2007-2015
    • Shiels, A.1    Bennett, T.M.2    Hejtmancik, J.F.3
  • 4
    • 0033789748 scopus 로고    scopus 로고
    • Sequential activation of transcription factors in lens induction
    • [PMID: 11041485]
    • Ogino H, Yasuda K. Sequential activation of transcription factors in lens induction. Dev Growth Differ 2000; 42:437-48. [PMID: 11041485]
    • (2000) Dev Growth Differ , vol.42 , pp. 437-448
    • Ogino, H.1    Yasuda, K.2
  • 5
    • 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
    • [PMID: 9931324]
    • Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 1999; 8:165-72. [PMID: 9931324]
    • (1999) Hum Mol Genet , vol.8 , pp. 165-172
    • Hanson, I.1    Churchill, A.2    Love, J.3    Axton, R.4    Moore, T.5    Clarke, M.6    Meire, F.7    van Heyningen, V.8
  • 6
    • 0035253581 scopus 로고    scopus 로고
    • Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
    • [PMID: 11159941]
    • Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet 2001; 10:231-6. [PMID: 11159941]
    • (2001) Hum Mol Genet , vol.10 , pp. 231-236
    • Semina, E.V.1    Brownell, I.2    Mintz-Hittner, H.A.3    Murray, J.C.4    Jamrich, M.5
  • 7
    • 0034639683 scopus 로고    scopus 로고
    • Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
    • [PMID: 10655545]
    • Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet 2000; 9:363-6. [PMID: 10655545]
    • (2000) Hum Mol Genet , vol.9 , pp. 363-366
    • Azuma, N.1    Hirakiyama, A.2    Inoue, T.3    Asaka, A.4    Yamada, M.5
  • 14
    • 77949322638 scopus 로고    scopus 로고
    • A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree
    • [PMID: 20142846]
    • Gu Z, Ji B, Wan C, He G, Zhang J, Zhang M, Feng G, He L, Gao L. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. Mol Vis 2010; 16:154-60. [PMID: 20142846]
    • (2010) Mol Vis , vol.16 , pp. 154-160
    • Gu, Z.1    Ji, B.2    Wan, C.3    He, G.4    Zhang, J.5    Zhang, M.6    Feng, G.7    He, L.8    Gao, L.9
  • 15
    • 0032801234 scopus 로고    scopus 로고
    • The bicoid-related Pitx gene family in development
    • [PMID: 9922405]
    • Gage PJ, Suh H, Camper SA. The bicoid-related Pitx gene family in development. Mamm Genome 1999; 10:197-200. [PMID: 9922405]
    • (1999) Mamm Genome , vol.10 , pp. 197-200
    • Gage, P.J.1    Suh, H.2    Camper, S.A.3
  • 16
    • 0032493822 scopus 로고    scopus 로고
    • The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities
    • [PMID: 9685346]
    • Amendt BA, Sutherland LB, Semina EV, Russo AF. The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. J Biol Chem 1998; 273:20066-72. [PMID: 9685346]
    • (1998) J Biol Chem , vol.273 , pp. 20066-20072
    • Amendt, B.A.1    Sutherland, L.B.2    Semina, E.V.3    Russo, A.F.4
  • 17
    • 0030669179 scopus 로고    scopus 로고
    • Isolation of a new homeobox gene belonging to the Pitx/Rieg family: Expression during lens development and mapping to the aphakia region on mouse chromosome 19
    • [PMID: 9328475]
    • Semina EV, Reiter RS, Murray JC. Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. Hum Mol Genet 1997; 6:2109-16. [PMID: 9328475]
    • (1997) Hum Mol Genet , vol.6 , pp. 2109-2116
    • Semina, E.V.1    Reiter, R.S.2    Murray, J.C.3
  • 19
    • 36348932775 scopus 로고    scopus 로고
    • Functional analysis of human mutations in homeodomain transcription factor PITX3
    • [PMID: 17888164]
    • Sakazume S, Sorokina E, Iwamoto Y, Semina EV. Functional analysis of human mutations in homeodomain transcription factor PITX3. BMC Mol Biol 2007; 8:84. [PMID: 17888164]
    • (2007) BMC Mol Biol , vol.8 , pp. 84
    • Sakazume, S.1    Sorokina, E.2    Iwamoto, Y.3    Semina, E.V.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.