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Volumn 22, Issue 4, 2007, Pages 211-217

The Wnt signaling pathway in familial exudative vitreoretinopathy and norrie disease

Author keywords

Familial exudative vitreoretinopathy; Norrie disease; Retinal vasculopathy; Wnt pathway

Indexed keywords

GENE PRODUCT; NORRIN; PROTEIN; UNCLASSIFIED DRUG; VASCULOTROPIN INHIBITOR; WNT PROTEIN;

EID: 37549046071     PISSN: 08820538     EISSN: 17445205     Source Type: Journal    
DOI: 10.1080/08820530701745124     Document Type: Review
Times cited : (67)

References (65)
  • 1
    • 0020216124 scopus 로고
    • Many tumors induced by the mouse mammary tumor virus contain a provirus integrated in the same region of the host genome
    • Nusse R, Varmus HE. Many tumors induced by the mouse mammary tumor virus contain a provirus integrated in the same region of the host genome. Cell 1982; 31(1):99-109.
    • (1982) Cell , vol.31 , Issue.1 , pp. 99-109
    • Nusse, R.1    Varmus, H.E.2
  • 2
    • 0023653232 scopus 로고
    • The Drosophila homolog of the mouse mammary oncogene int-1 is identical to the segment polarity gene wingless
    • Rijsewijk F, Schuermann M, Wagenaar E, Parren P, Weigel D, Nusse R. The Drosophila homolog of the mouse mammary oncogene int-1 is identical to the segment polarity gene wingless. Cell 1987; 50(4):649-57.
    • (1987) Cell , vol.50 , Issue.4 , pp. 649-657
    • Rijsewijk, F.1    Schuermann, M.2    Wagenaar, E.3    Parren, P.4    Weigel, D.5    Nusse, R.6
  • 3
    • 0024435879 scopus 로고
    • Ectopic expression of the proto-oncogene int-1 in Xenopus embryos leads to duplication of the embryonic axis
    • McMahon AP, Moon RT. Ectopic expression of the proto-oncogene int-1 in Xenopus embryos leads to duplication of the embryonic axis. Cell 1989; 58(6):1075-84.
    • (1989) Cell , vol.58 , Issue.6 , pp. 1075-1084
    • McMahon, A.P.1    Moon, R.T.2
  • 4
    • 20244382568 scopus 로고    scopus 로고
    • Maternal Wnt11 activates the canonical Wnt signaling pathway required for axis formation in Xenopus embryos
    • Tao Q, Yokota C, Puck H, et al. Maternal Wnt11 activates the canonical Wnt signaling pathway required for axis formation in Xenopus embryos. Cell 2005; 120(6):857-71.
    • (2005) Cell , vol.120 , Issue.6 , pp. 857-871
    • Tao, Q.1    Yokota, C.2    Puck, H.3
  • 5
    • 33746808398 scopus 로고    scopus 로고
    • Wnt/beta-catenin signaling in development and disease
    • Clevers H. Wnt/beta-catenin signaling in development and disease. Cell 2006; 127(3):469-80.
    • (2006) Cell , vol.127 , Issue.3 , pp. 469-480
    • Clevers, H.1
  • 6
    • 19944432478 scopus 로고    scopus 로고
    • Unexpected complexity of the Wnt gene family in a sea anemone
    • Kusserow A, Pang K, Sturm C, et al. Unexpected complexity of the Wnt gene family in a sea anemone. Nature 2005; 433(7022):156-60.
    • (2005) Nature , vol.433 , Issue.7022 , pp. 156-160
    • Kusserow, A.1    Pang, K.2    Sturm, C.3
  • 7
    • 8444251784 scopus 로고    scopus 로고
    • The Wnt signaling pathway in development and disease
    • Logan CY, Nusse R. The Wnt signaling pathway in development and disease. Annu Rev Cell Dev Biol 2004; 20:781-810.
    • (2004) Annu Rev Cell Dev Biol , vol.20 , pp. 781-810
    • Logan, C.Y.1    Nusse, R.2
  • 8
    • 33744468781 scopus 로고    scopus 로고
    • de Iongh RU, Abud HE, Hime GR. WNT/Frizzled signaling in eye development and disease. Front Biosci 2006; 11:2442-64.
    • de Iongh RU, Abud HE, Hime GR. WNT/Frizzled signaling in eye development and disease. Front Biosci 2006; 11:2442-64.
  • 9
    • 0037737726 scopus 로고    scopus 로고
    • Wnt proteins are lipid-modified and can act as stem cell growth factors
    • Willert K, Brown JD, Danenberg E, et al. Wnt proteins are lipid-modified and can act as stem cell growth factors. Nature 2003; 423(6938):448-52.
    • (2003) Nature , vol.423 , Issue.6938 , pp. 448-452
    • Willert, K.1    Brown, J.D.2    Danenberg, E.3
  • 10
    • 0029994517 scopus 로고    scopus 로고
    • A new member of the frizzled family from Drosophila functions as a Wingless receptor
    • Bhanot P, Brink M, Samos CH, et al. A new member of the frizzled family from Drosophila functions as a Wingless receptor. Nature 1996; 382(6588):225-30.
    • (1996) Nature , vol.382 , Issue.6588 , pp. 225-230
    • Bhanot, P.1    Brink, M.2    Samos, C.H.3
  • 11
    • 0035811492 scopus 로고    scopus 로고
    • Insights into Wnt binding and signalling from the structures of two Frizzled cysteine-rich domains
    • Dann CE, Hsieh JC, Rattner A, Sharma D, Nathans J, Leahy DJ. Insights into Wnt binding and signalling from the structures of two Frizzled cysteine-rich domains. Nature 2001; 412(6842):86-90.
    • (2001) Nature , vol.412 , Issue.6842 , pp. 86-90
    • Dann, C.E.1    Hsieh, J.C.2    Rattner, A.3    Sharma, D.4    Nathans, J.5    Leahy, D.J.6
  • 12
    • 0034727078 scopus 로고    scopus 로고
    • An LDL-receptor-related protein mediates Wnt signalling in mice
    • Pinson KI, Brennan J, Monkley S, Avery BJ, Skarnes WC. An LDL-receptor-related protein mediates Wnt signalling in mice. Nature 2000; 407(6803):535-8.
    • (2000) Nature , vol.407 , Issue.6803 , pp. 535-538
    • Pinson, K.I.1    Brennan, J.2    Monkley, S.3    Avery, B.J.4    Skarnes, W.C.5
  • 13
    • 0034727104 scopus 로고    scopus 로고
    • LDL-receptor-related proteins in Wnt signal transduction
    • Tamai K, Semenov M, Kato Y, et al. LDL-receptor-related proteins in Wnt signal transduction. Nature 2000; 407(6803):530-5.
    • (2000) Nature , vol.407 , Issue.6803 , pp. 530-535
    • Tamai, K.1    Semenov, M.2    Kato, Y.3
  • 14
    • 0034727099 scopus 로고    scopus 로고
    • arrow encodes an LDL-receptor-related protein essential for Wingless signalling
    • Wehrli M, Dougan ST, Caldwell K, et al. arrow encodes an LDL-receptor-related protein essential for Wingless signalling. Nature 2000; 407(6803):527-30.
    • (2000) Nature , vol.407 , Issue.6803 , pp. 527-530
    • Wehrli, M.1    Dougan, S.T.2    Caldwell, K.3
  • 15
    • 12144289950 scopus 로고    scopus 로고
    • Vascular development in the retina and inner ear: Control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair
    • Xu Q, Wang Y, Dabdoub A, et al. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell 2004; 116(6):883-95.
    • (2004) Cell , vol.116 , Issue.6 , pp. 883-895
    • Xu, Q.1    Wang, Y.2    Dabdoub, A.3
  • 16
    • 0030978351 scopus 로고    scopus 로고
    • beta-catenin is a target for the ubiquitin-proteasome pathway
    • Aberle H, Bauer A, Stappert J, Kispert A, Kemler R. beta-catenin is a target for the ubiquitin-proteasome pathway. Embo J 1997; 16(13):3797-804.
    • (1997) Embo J , vol.16 , Issue.13 , pp. 3797-3804
    • Aberle, H.1    Bauer, A.2    Stappert, J.3    Kispert, A.4    Kemler, R.5
  • 17
    • 0033034120 scopus 로고    scopus 로고
    • beta-Trcp couples beta-catenin phosphorylation-degradation and regulates Xenopus axis formation
    • Liu C, Kato Y, Zhang Z, Do VM, Yankner BA, He X. beta-Trcp couples beta-catenin phosphorylation-degradation and regulates Xenopus axis formation. Proc Natl Acad Sci USA 1999; 96(11):6273-8.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.11 , pp. 6273-6278
    • Liu, C.1    Kato, Y.2    Zhang, Z.3    Do, V.M.4    Yankner, B.A.5    He, X.6
  • 18
    • 0033611567 scopus 로고    scopus 로고
    • The human F box protein beta-Trcp associates with the Cul1/Skp1 complex and regulates the stability of beta-catenin
    • Latres E, Chiaur DS, Pagano M. The human F box protein beta-Trcp associates with the Cul1/Skp1 complex and regulates the stability of beta-catenin. Oncogene 1999; 18(4):849-54.
    • (1999) Oncogene , vol.18 , Issue.4 , pp. 849-854
    • Latres, E.1    Chiaur, D.S.2    Pagano, M.3
  • 19
    • 0027756014 scopus 로고
    • Association of the APC tumor suppressor protein with catenins
    • Su LK, Vogelstein B, Kinzler KW. Association of the APC tumor suppressor protein with catenins. Science 1993; 262(5140):1734-7.
    • (1993) Science , vol.262 , Issue.5140 , pp. 1734-1737
    • Su, L.K.1    Vogelstein, B.2    Kinzler, K.W.3
  • 20
    • 0027738023 scopus 로고
    • Association of the APC gene product with beta-catenin
    • Rubinfeld B, Souza B, Albert I, et al. Association of the APC gene product with beta-catenin. Science 1993; 262(5140):1731-4.
    • (1993) Science , vol.262 , Issue.5140 , pp. 1731-1734
    • Rubinfeld, B.1    Souza, B.2    Albert, I.3
  • 21
    • 0030999806 scopus 로고    scopus 로고
    • Armadillo coactivates transcription driven by the product of the Drosophila segment polarity gene dTCF
    • van de Wetering M, Cavallo R, Dooijes D, et al. Armadillo coactivates transcription driven by the product of the Drosophila segment polarity gene dTCF. Cell 1997; 88(6):789-99.
    • (1997) Cell , vol.88 , Issue.6 , pp. 789-799
    • van de Wetering, M.1    Cavallo, R.2    Dooijes, D.3
  • 22
    • 0029781509 scopus 로고    scopus 로고
    • Functional interaction of beta-catenin with the transcription factor LEF-1
    • Behrens J, von Kries JP, Kuhl M, et al. Functional interaction of beta-catenin with the transcription factor LEF-1. Nature 1996; 382(6592):638-42.
    • (1996) Nature , vol.382 , Issue.6592 , pp. 638-642
    • Behrens, J.1    von Kries, J.P.2    Kuhl, M.3
  • 23
    • 0001003110 scopus 로고    scopus 로고
    • XTcf-3 transcription factor mediates beta-catenin-induced axis formation in Xenopus embryos
    • Molenaar M, van de Wetering M, Oosterwegel M, et al. XTcf-3 transcription factor mediates beta-catenin-induced axis formation in Xenopus embryos. Cell 1996; 86(3):391-9.
    • (1996) Cell , vol.86 , Issue.3 , pp. 391-399
    • Molenaar, M.1    van de Wetering, M.2    Oosterwegel, M.3
  • 24
    • 0014594475 scopus 로고
    • Familial exudative vitreoretinopathy
    • Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol 1969; 68(4):578-94.
    • (1969) Am J Ophthalmol , vol.68 , Issue.4 , pp. 578-594
    • Criswick, V.G.1    Schepens, C.L.2
  • 26
    • 0017051492 scopus 로고
    • Fluorescein angiographic findings in familial exudative vitreoretinopathy
    • Canny CL, Oliver GL. Fluorescein angiographic findings in familial exudative vitreoretinopathy. Arch Ophthalmol 1976; 94(7):1114-20.
    • (1976) Arch Ophthalmol , vol.94 , Issue.7 , pp. 1114-1120
    • Canny, C.L.1    Oliver, G.L.2
  • 27
    • 0015106895 scopus 로고
    • Familial exudative vitreoretinopathy. An expanded view
    • Gow J, Oliver GL. Familial exudative vitreoretinopathy. An expanded view. Arch Ophthalmol 1971; 86(2):150-5.
    • (1971) Arch Ophthalmol , vol.86 , Issue.2 , pp. 150-155
    • Gow, J.1    Oliver, G.L.2
  • 29
    • 0018625379 scopus 로고
    • Flourescein angiography in mild stages of dominant exudative vitreoretinopathy
    • Nijhuis FA, Deutman AF, Aan de Kerk AL. Flourescein angiography in mild stages of dominant exudative vitreoretinopathy. Mod Probl Ophthalmol 1979; 20:107-14.
    • (1979) Mod Probl Ophthalmol , vol.20 , pp. 107-114
    • Nijhuis, F.A.1    Deutman, A.F.2    Aan de Kerk, A.L.3
  • 30
    • 0020560629 scopus 로고
    • Falciform retinal fold as sign of familial exudative vitreoretinopathy
    • Nishimura M, Yamana T, Sugino M, et al. Falciform retinal fold as sign of familial exudative vitreoretinopathy. Jpn J Ophthalmol 1983; 27(1):40-53.
    • (1983) Jpn J Ophthalmol , vol.27 , Issue.1 , pp. 40-53
    • Nishimura, M.1    Yamana, T.2    Sugino, M.3
  • 31
    • 0024385404 scopus 로고
    • Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy
    • van Nouhuys CE. Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy. Fortschr Ophthalmol 1989; 86(3):221-3.
    • (1989) Fortschr Ophthalmol , vol.86 , Issue.3 , pp. 221-223
    • van Nouhuys, C.E.1
  • 32
    • 0020665510 scopus 로고
    • Familial exudative vitreoretinopathy
    • Bergen RL, Glassman R. Familial exudative vitreoretinopathy. Ann Ophthalmol 1983; 15(3):275-6.
    • (1983) Ann Ophthalmol , vol.15 , Issue.3 , pp. 275-276
    • Bergen, R.L.1    Glassman, R.2
  • 33
    • 14444268540 scopus 로고    scopus 로고
    • Autosomal recessive familial exudative vitreoretinopathy: Evidence for genetic heterogeneity
    • de Crecchio G, Simonelli F, Nunziata G, et al. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. Clin Genet 1998; 54(4):315-20.
    • (1998) Clin Genet , vol.54 , Issue.4 , pp. 315-320
    • de Crecchio, G.1    Simonelli, F.2    Nunziata, G.3
  • 34
    • 0029039849 scopus 로고
    • Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy
    • Shastry BS, Hejtmancik JF, Plager DA, Hartzer MK, Trese MT. Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics 1995; 27(2):341-4.
    • (1995) Genomics , vol.27 , Issue.2 , pp. 341-344
    • Shastry, B.S.1    Hejtmancik, J.F.2    Plager, D.A.3    Hartzer, M.K.4    Trese, M.T.5
  • 35
    • 0026756530 scopus 로고
    • The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533
    • Li Y, Muller B, Fuhrmann C, et al. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet 1992; 51(4):749-54.
    • (1992) Am J Hum Genet , vol.51 , Issue.4 , pp. 749-754
    • Li, Y.1    Muller, B.2    Fuhrmann, C.3
  • 36
    • 0035092388 scopus 로고    scopus 로고
    • A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13
    • Downey LM, Keen TJ, Roberts E, Mansfield DC, Bamashmus M, Inglehearn CF. A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. Am J Hum Genet 2001; 68(3):778-81.
    • (2001) Am J Hum Genet , vol.68 , Issue.3 , pp. 778-781
    • Downey, L.M.1    Keen, T.J.2    Roberts, E.3    Mansfield, D.C.4    Bamashmus, M.5    Inglehearn, C.F.6
  • 37
    • 1342264760 scopus 로고    scopus 로고
    • Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)
    • Toomes C, Downey LM, Bottomley HM, et al. Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). Mol Vis 2004; 10:37-42.
    • (2004) Mol Vis , vol.10 , pp. 37-42
    • Toomes, C.1    Downey, L.M.2    Bottomley, H.M.3
  • 38
    • 12944321820 scopus 로고    scopus 로고
    • Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree
    • Toomes C, Downey LM, Bottomley HM, Mintz-Hittner HA, Inglehearn CF. Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. Br J Ophthalmol 2005; 89(2):194-7.
    • (2005) Br J Ophthalmol , vol.89 , Issue.2 , pp. 194-197
    • Toomes, C.1    Downey, L.M.2    Bottomley, H.M.3    Mintz-Hittner, H.A.4    Inglehearn, C.F.5
  • 39
    • 0036789449 scopus 로고    scopus 로고
    • Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
    • Robitaille J, MacDonald ML, Kaykas A, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 2002; 32(2):326-30.
    • (2002) Nat Genet , vol.32 , Issue.2 , pp. 326-330
    • Robitaille, J.1    MacDonald, M.L.2    Kaykas, A.3
  • 40
    • 12144288372 scopus 로고    scopus 로고
    • Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
    • Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 2004; 74(4):721-30.
    • (2004) Am J Hum Genet , vol.74 , Issue.4 , pp. 721-730
    • Toomes, C.1    Bottomley, H.M.2    Jackson, R.M.3
  • 41
    • 22844443861 scopus 로고    scopus 로고
    • Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes
    • Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum Mutat 2005; 26(2):104-12.
    • (2005) Hum Mutat , vol.26 , Issue.2 , pp. 104-112
    • Qin, M.1    Hayashi, H.2    Oshima, K.3    Tahira, T.4    Hayashi, K.5    Kondo, H.6
  • 44
    • 0027367772 scopus 로고
    • A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
    • Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993; 5(2):180-3.
    • (1993) Nat Genet , vol.5 , Issue.2 , pp. 180-183
    • Chen, Z.Y.1    Battinelli, E.M.2    Fielder, A.3
  • 45
    • 6344241957 scopus 로고    scopus 로고
    • Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5
    • Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet 2004; 75(5):878-84.
    • (2004) Am J Hum Genet , vol.75 , Issue.5 , pp. 878-884
    • Jiao, X.1    Ventruto, V.2    Trese, M.T.3    Shastry, B.S.4    Hejtmancik, J.F.5
  • 46
    • 0016665297 scopus 로고
    • Norrie's disesae: Differential diagnosis and treatment
    • Warburg M. Norrie's disesae: differential diagnosis and treatment. Acta Ophthalmolol 1975; 53:217-36.
    • (1975) Acta Ophthalmolol , vol.53 , pp. 217-236
    • Warburg, M.1
  • 47
    • 0013991114 scopus 로고
    • Norrie's disease. A congenital progressive oculoacustico-cerebral degeneration
    • Warburg M. Norrie's disease. A congenital progressive oculoacustico-cerebral degeneration. Acta Ophthalmolol 1966; 89 Suppl:1-47.
    • (1966) Acta Ophthalmolol , vol.89 , Issue.SUPPL. , pp. 1-47
    • Warburg, M.1
  • 48
    • 13344259896 scopus 로고
    • Norrie's disease: Congenital bilateral pseudotumor of the retina with X-chomosomal inheritance; preliminary report
    • Anderson S, Warburg M. Norrie's disease: congenital bilateral pseudotumor of the retina with X-chomosomal inheritance; preliminary report. Arch Ophthalmol 1961; 66:614-8.
    • (1961) Arch Ophthalmol , vol.66 , pp. 614-618
    • Anderson, S.1    Warburg, M.2
  • 49
    • 84981784522 scopus 로고
    • Causes of blindness in children
    • Norrie G. Causes of blindness in children. Acta Ophthalmolol 1927; 5:357-86.
    • (1927) Acta Ophthalmolol , vol.5 , pp. 357-386
    • Norrie, G.1
  • 50
    • 37549018756 scopus 로고    scopus 로고
    • Histopathology and electron microscopy of a 16 week gestation retina carrying the norrie mutation
    • Andreoli C, Maumenee I, Zhu D, Mukai S. Histopathology and electron microscopy of a 16 week gestation retina carrying the norrie mutation. ARVO 2004.
    • (2004) ARVO
    • Andreoli, C.1    Maumenee, I.2    Zhu, D.3    Mukai, S.4
  • 52
    • 0028077215 scopus 로고
    • Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene
    • Joos KM, Kimura AE, Vandenburgh K, Bartley JA, Stone EM. Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene. Arch Ophthalmol 1994; 112(12):1574-9.
    • (1994) Arch Ophthalmol , vol.112 , Issue.12 , pp. 1574-1579
    • Joos, K.M.1    Kimura, A.E.2    Vandenburgh, K.3    Bartley, J.A.4    Stone, E.M.5
  • 54
    • 0026938038 scopus 로고
    • Mutations in the candidate gene for Norrie disease
    • Berger W, van de Pol D, Warburg M, et al. Mutations in the candidate gene for Norrie disease. Hum Mol Genet 1992; 1(7):461-5.
    • (1992) Hum Mol Genet , vol.1 , Issue.7 , pp. 461-465
    • Berger, W.1    van de Pol, D.2    Warburg, M.3
  • 55
    • 0030808109 scopus 로고    scopus 로고
    • Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene
    • Schroeder B, Hesse L, Bruck W, Gal A. Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene. Ophthalmic Genet 1997; 18(2):71-7.
    • (1997) Ophthalmic Genet , vol.18 , Issue.2 , pp. 71-77
    • Schroeder, B.1    Hesse, L.2    Bruck, W.3    Gal, A.4
  • 57
    • 0026879015 scopus 로고
    • Isolation and characterization of a candidate gene for Norrie disease
    • Chen ZY, Hendriks RW, Jobling MA, et al. Isolation and characterization of a candidate gene for Norrie disease. Nat Genet 1992; 1(3):204-8.
    • (1992) Nat Genet , vol.1 , Issue.3 , pp. 204-208
    • Chen, Z.Y.1    Hendriks, R.W.2    Jobling, M.A.3
  • 58
    • 0026878927 scopus 로고
    • Isolation of a candidate gene for Norrie disease by positional cloning
    • Berger W, Meindl A, van de Pol TJ, et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1992; 1(3):199-203.
    • (1992) Nat Genet , vol.1 , Issue.3 , pp. 199-203
    • Berger, W.1    Meindl, A.2    van de Pol, T.J.3
  • 60
    • 33748541935 scopus 로고    scopus 로고
    • Mutations in the NDP gene: Contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity
    • Dickinson JL, Sale MM, Passmore A, et al. Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. Clin Experiment Ophthalmol 2006; 34(7):682-8.
    • (2006) Clin Experiment Ophthalmol , vol.34 , Issue.7 , pp. 682-688
    • Dickinson, J.L.1    Sale, M.M.2    Passmore, A.3
  • 61
    • 0035036976 scopus 로고    scopus 로고
    • Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity
    • Hiraoka M, Berinstein DM, Trese MT, Shastry BS. Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity. J Hum Genet 2001; 46(4):178-81.
    • (2001) J Hum Genet , vol.46 , Issue.4 , pp. 178-181
    • Hiraoka, M.1    Berinstein, D.M.2    Trese, M.T.3    Shastry, B.S.4
  • 62
    • 0032837154 scopus 로고    scopus 로고
    • Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: A role for norrin in retinal angiogenesis
    • Black GC, Perveen R, Bonshek R, et al. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum Mol Genet 1999; 8(11):2031-5.
    • (1999) Hum Mol Genet , vol.8 , Issue.11 , pp. 2031-2035
    • Black, G.C.1    Perveen, R.2    Bonshek, R.3
  • 63
    • 0030919857 scopus 로고    scopus 로고
    • Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity
    • Shastry BS, Pendergast SD, Hartzer MK, Liu X, Trese MT. Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. Arch Ophthalmol 1997; 115(5):651-5.
    • (1997) Arch Ophthalmol , vol.115 , Issue.5 , pp. 651-655
    • Shastry, B.S.1    Pendergast, S.D.2    Hartzer, M.K.3    Liu, X.4    Trese, M.T.5
  • 64
    • 0036985722 scopus 로고    scopus 로고
    • Mutations of the Norrie gene in Korean ROP infants
    • Kim JH, Yu YS, Kim J, Park SS. Mutations of the Norrie gene in Korean ROP infants. Korean J Ophthalmol 2002; 16(2):93-6.
    • (2002) Korean J Ophthalmol , vol.16 , Issue.2 , pp. 93-96
    • Kim, J.H.1    Yu, Y.S.2    Kim, J.3    Park, S.S.4
  • 65
    • 0033973673 scopus 로고    scopus 로고
    • Missense mutations in norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti arabs
    • Haider MZ, Devarajan LV, Al-Essa M, et al. Missense mutations in norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti arabs. Biol Neonate 2000; 77(2):88-91.
    • (2000) Biol Neonate , vol.77 , Issue.2 , pp. 88-91
    • Haider, M.Z.1    Devarajan, L.V.2    Al-Essa, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.