메뉴 건너뛰기




Volumn 44, Issue 6, 2003, Pages 2627-2633

Novel anterior segment phenotypes resulting from forkhead gene alterations: Evidence for cross-species conservation of function

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN FOXE3; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR FOXC2; UNCLASSIFIED DRUG;

EID: 0038485740     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.02-0609     Document Type: Article
Times cited : (45)

References (33)
  • 1
    • 0033566179 scopus 로고    scopus 로고
    • The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye
    • Kidson SH, Kume T, Deng K, Winfrey V, Hogan BL. The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye. Dev Biol. 1999;211:306-322.
    • (1999) Dev Biol , vol.211 , pp. 306-322
    • Kidson, S.H.1    Kume, T.2    Deng, K.3    Winfrey, V.4    Hogan, B.L.5
  • 2
    • 18144437181 scopus 로고    scopus 로고
    • Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
    • Smith RS, Zabaleta A, Kume T, et al. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet. 2000;9:1021-1032.
    • (2000) Hum Mol Genet , vol.9 , pp. 1021-1032
    • Smith, R.S.1    Zabaleta, A.2    Kume, T.3
  • 3
    • 0034092938 scopus 로고    scopus 로고
    • Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract
    • Kume T, Deng K, Hogan BL. Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract. Development. 2000;127: 1387-1395.
    • (2000) Development , vol.127 , pp. 1387-1395
    • Kume, T.1    Deng, K.2    Hogan, B.L.3
  • 4
    • 0035883744 scopus 로고    scopus 로고
    • The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somatogenesis
    • Kume T, Jiang H, Topczewska JM, Hogan BL. The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somatogenesis. Gen Dev. 2001; 15:2470-2482.
    • (2001) Gen Dev , vol.15 , pp. 2470-2482
    • Kume, T.1    Jiang, H.2    Topczewska, J.M.3    Hogan, B.L.4
  • 5
    • 17344368672 scopus 로고    scopus 로고
    • The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
    • Nishimura D, Swiderski R, Alward W, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19:140-147.
    • (1998) Nat Genet , vol.19 , pp. 140-147
    • Nishimura, D.1    Swiderski, R.2    Alward, W.3
  • 6
    • 0032231330 scopus 로고    scopus 로고
    • Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly
    • Mears AJ, Jordan T, Mirzayans F, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. 1998;63:1316-1328.
    • (1998) Am J Hum Genet , vol.63 , pp. 1316-1328
    • Mears, A.J.1    Jordan, T.2    Mirzayans, F.3
  • 7
    • 0032865861 scopus 로고    scopus 로고
    • Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects
    • Swiderski RE, Reiter RS, Nishimura DY, et al. Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. Dev Dyn. 1999;216:16-27.
    • (1999) Dev Dyn , vol.216 , pp. 16-27
    • Swiderski, R.E.1    Reiter, R.S.2    Nishimura, D.Y.3
  • 8
    • 0032511231 scopus 로고    scopus 로고
    • The forkhead/winged helix gene Mf1 is disrupted in the mouse mutation congenital hydrocephalus
    • Kume T, Deng K, Winfrey V, Gould DB, Walter MA, Hogan BL. The forkhead/winged helix gene Mf1 is disrupted in the mouse mutation congenital hydrocephalus. Cell. 1998;93:985-996.
    • (1998) Cell , vol.93 , pp. 985-996
    • Kume, T.1    Deng, K.2    Winfrey, V.3    Gould, D.B.4    Walter, M.A.5    Hogan, B.L.6
  • 9
    • 0033041178 scopus 로고    scopus 로고
    • Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcription factor gene
    • Hong H, Lass JH, Chakravarti A. Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcription factor gene. Hum Mol Genet. 1999;8:625-637.
    • (1999) Hum Mol Genet , vol.8 , pp. 625-637
    • Hong, H.1    Lass, J.H.2    Chakravarti, A.3
  • 10
    • 0035125059 scopus 로고    scopus 로고
    • A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
    • Nishimura DY, Searby CC, Alward WL, et al. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet. 2001;68:364-372.
    • (2001) Am J Hum Genet , vol.68 , pp. 364-372
    • Nishimura, D.Y.1    Searby, C.C.2    Alward, W.L.3
  • 11
    • 0033753876 scopus 로고    scopus 로고
    • Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
    • Lehmann OJ, Ebenezer ND, Jordan T, et al. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet. 2000;67: 1129-1135.
    • (2000) Am J Hum Genet , vol.67 , pp. 1129-1135
    • Lehmann, O.J.1    Ebenezer, N.D.2    Jordan, T.3
  • 12
    • 0036272052 scopus 로고    scopus 로고
    • Interstitial 6p25 duplications and deletions cause ocular developmental abnormalities and glaucoma
    • Lehmann OJ, Ebenezer ND, Ekong R, et al. Interstitial 6p25 duplications and deletions cause ocular developmental abnormalities and glaucoma. Invest Ophthalmol Vis Sci. 2002;43:1843-1849.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 1843-1849
    • Lehmann, O.J.1    Ebenezer, N.D.2    Ekong, R.3
  • 13
    • 0034650544 scopus 로고    scopus 로고
    • A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle
    • Blixt Å, Mahlapuu M, Aitola M, Pelto-Huikko M, Enerback S, Carlsson P. A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle. Genes Dev. 2000;14: 245-254.
    • (2000) Genes Dev , vol.14 , pp. 245-254
    • Blixt, Å.1    Mahlapuu, M.2    Aitola, M.3    Pelto-Huikko, M.4    Enerback, S.5    Carlsson, P.6
  • 14
    • 0033897180 scopus 로고    scopus 로고
    • Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation
    • Brownell I, Dirksen M, Jamrich M. Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation. Genesis. 2000;27:81-93.
    • (2000) Genesis , vol.27 , pp. 81-93
    • Brownell, I.1    Dirksen, M.2    Jamrich, M.3
  • 15
    • 0035253581 scopus 로고    scopus 로고
    • Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
    • Semina EV, Brownell I, Mintz-Hittner HA, et al. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet. 2001;10:231-236.
    • (2001) Hum Mol Genet , vol.10 , pp. 231-236
    • Semina, E.V.1    Brownell, I.2    Mintz-Hittner, H.A.3
  • 17
    • 0035789569 scopus 로고    scopus 로고
    • Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR
    • Wang Wh, McNatt LG, Shepard AR. Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR. Mol Vis. 2001;7:89-94.
    • (2001) Mol Vis , vol.7 , pp. 89-94
    • Wang, Wh.1    McNatt, L.G.2    Shepard, A.R.3
  • 18
    • 0033646615 scopus 로고    scopus 로고
    • Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
    • Fang J, Dagenais SL, Erickson RP, et al. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet. 2000;67:1382-1388.
    • (2000) Am J Hum Genet , vol.67 , pp. 1382-1388
    • Fang, J.1    Dagenais, S.L.2    Erickson, R.P.3
  • 19
    • 17844375103 scopus 로고    scopus 로고
    • Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
    • Bell R, Brice G, Child AH, et al. Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. Hum Genet. 2001;108:546-551.
    • (2001) Hum Genet , vol.108 , pp. 546-551
    • Bell, R.1    Brice, G.2    Child, A.H.3
  • 20
    • 18444378418 scopus 로고    scopus 로고
    • Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
    • Brice G, Mansour S, Bell R, et al. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet. 2002;39:478-483.
    • (2002) J Med Genet , vol.39 , pp. 478-483
    • Brice, G.1    Mansour, S.2    Bell, R.3
  • 21
    • 0034603359 scopus 로고    scopus 로고
    • Human corneal thickness and its impact on intraocular pressure measures: A review and meta-analysis approach
    • Doughty MJ, Zaman ML. Human corneal thickness and its impact on intraocular pressure measures: a review and meta-analysis approach. Surv Ophthalmol. 2000;44:367-408.
    • (2000) Surv Ophthalmol , vol.44 , pp. 367-408
    • Doughty, M.J.1    Zaman, M.L.2
  • 22
    • 0018418062 scopus 로고
    • Dysgenetic lens (dyl): A new gene in the mouse
    • Sanyal S, Hawkins RK. Dysgenetic lens (dyl): a new gene in the mouse. Invest Ophthalmol Vis Sci. 1979;18:642-645.
    • (1979) Invest Ophthalmol Vis Sci , vol.18 , pp. 642-645
    • Sanyal, S.1    Hawkins, R.K.2
  • 23
    • 0034060221 scopus 로고    scopus 로고
    • Forkhead transcription factor Foxf2 is expressed in mesodermal tissues involved in epithelio-mesenchymal interactions
    • Aitola M, Carlsson P, Mahlapuu M, Enerback S, Pelto-Huikko M. Forkhead transcription factor Foxf2 is expressed in mesodermal tissues involved in epithelio-mesenchymal interactions. Dev Dyn. 2000;218:136-149.
    • (2000) Dev Dyn , vol.218 , pp. 136-149
    • Aitola, M.1    Carlsson, P.2    Mahlapuu, M.3    Enerback, S.4    Pelto-Huikko, M.5
  • 24
    • 0033568038 scopus 로고    scopus 로고
    • Roles for the winged helix transcription factors Mf1 and Mfh1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles
    • Winnier GE, Kume T, Deng K, et al. Roles for the winged helix transcription factors Mf1 and Mfh1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles. Dev Biol. 1999;213:418-431.
    • (1999) Dev Biol , vol.213 , pp. 418-431
    • Winnier, G.E.1    Kume, T.2    Deng, K.3
  • 25
    • 0035142307 scopus 로고    scopus 로고
    • Sequence and expression of zebrafish foxc1a and foxc1b, encoding conserved forkhead/winged helix transcription factors
    • Topczewskaa JM, Topczewskib J, Solnica-Krezelb L, Hogan BL. Sequence and expression of zebrafish foxc1a and foxc1b, encoding conserved forkhead/winged helix transcription factors. Mech Dev. 2001;100:343-347.
    • (2001) Mech Dev , vol.100 , pp. 343-347
    • Topczewskaa, J.M.1    Topczewskib, J.2    Solnica-Krezelb, L.3    Hogan, B.L.4
  • 26
    • 0347579848 scopus 로고    scopus 로고
    • A goniolens for clinical monitoring of the mouse iridocorneal angle and optic nerve
    • Smith RS, Korb D, John SWM. A goniolens for clinical monitoring of the mouse iridocorneal angle and optic nerve. Mol Vision. 2002;8:26-31.
    • (2002) Mol Vision , vol.8 , pp. 26-31
    • Smith, R.S.1    Korb, D.2    John, S.W.M.3
  • 27
    • 0036235038 scopus 로고    scopus 로고
    • Effect of corneal thickness on intraocular pressure measurements with the pneumotonometer, Goldmann applanation tonometer, and Tono-Pen
    • Bhan A, Browning AC, Shah S, Hamilton R, Dave D, Dua HS. Effect of corneal thickness on intraocular pressure measurements with the pneumotonometer, Goldmann applanation tonometer, and Tono-Pen. Invest Ophthalmol Vis Sci. 2002;43:1389-1392.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 1389-1392
    • Bhan, A.1    Browning, A.C.2    Shah, S.3    Hamilton, R.4    Dave, D.5    Dua, H.S.6
  • 28
    • 0036272299 scopus 로고    scopus 로고
    • The ocular hypertension treatment study: Baseline factors that predict the onset of primary open angle glaucoma
    • Gordon MO, Beiser JA, Brandt JD, et al. The ocular hypertension treatment study: baseline factors that predict the onset of primary open angle glaucoma. Arch Ophthalmol. 2002;120:714-720.
    • (2002) Arch Ophthalmol , vol.120 , pp. 714-720
    • Gordon, M.O.1    Beiser, J.A.2    Brandt, J.D.3
  • 29
    • 0035131812 scopus 로고    scopus 로고
    • The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    • Crisponi L, Deiana M, Loi A, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet. 2001;27:159-166.
    • (2001) Nat Genet , vol.27 , pp. 159-166
    • Crisponi, L.1    Deiana, M.2    Loi, A.3
  • 30
    • 0035878536 scopus 로고    scopus 로고
    • Spectrum of FOXL2 mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrate a genotype-phenotype correlation
    • De Baere E, Dixon MJ, Small K. Spectrum of FOXL2 mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrate a genotype-phenotype correlation. Hum Mol Genet. 2001;10:1591-1600.
    • (2001) Hum Mol Genet , vol.10 , pp. 1591-1600
    • De Baere, E.1    Dixon, M.J.2    Small, K.3
  • 31
    • 0033993639 scopus 로고    scopus 로고
    • Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
    • Mirzayans F, Gould DB, Heon E, et al. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet. 2000;8:71-74.
    • (2000) Eur J Hum Genet , vol.8 , pp. 71-74
    • Mirzayans, F.1    Gould, D.B.2    Heon, E.3
  • 32
    • 0035092384 scopus 로고    scopus 로고
    • Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1
    • Saleem RA, Banerjee-Basu S, Berry FB, Baxevanis AD, Walter MA. Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1. Am J Hum Genet. 2001;68:627-641.
    • (2001) Am J Hum Genet , vol.68 , pp. 627-641
    • Saleem, R.A.1    Banerjee-Basu, S.2    Berry, F.B.3    Baxevanis, A.D.4    Walter, M.A.5
  • 33
    • 0037155912 scopus 로고    scopus 로고
    • FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain
    • Berry FB, Saleem RA, Walter MA. FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain. J Biol Chem. 2002;277:10292-10297.
    • (2002) J Biol Chem , vol.277 , pp. 10292-10297
    • Berry, F.B.1    Saleem, R.A.2    Walter, M.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.