메뉴 건너뛰기




Volumn 34, Issue 7, 2006, Pages 682-688

Mutations in the NDP gene: Contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

Author keywords

Norrie disease; Retinopathy of prematurity; X linked familial exudative vitreoretinopathy

Indexed keywords

ARGININE; DNA; GROWTH FACTOR; HISTIDINE; LEUCINE; NORRIE DISEASE PROTEIN; OXYGEN; UNCLASSIFIED DRUG; VALINE;

EID: 33748541935     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/j.1442-9071.2006.01314.x     Document Type: Article
Times cited : (76)

References (31)
  • 1
    • 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: 180-3.
    • (1993) Nat Genet , vol.5 , pp. 180-183
    • Chen, Z.Y.1    Battinelli, E.M.2    Fielder, A.3
  • 2
    • 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 etal. Vascular development in the retina and inner ear: Control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell 2004; 116: 883-95.
    • (2004) Cell , vol.116 , pp. 883-895
    • Xu, Q.1    Wang, Y.2    Dabdoub, A.3
  • 3
    • 0040920369 scopus 로고    scopus 로고
    • Baltimore, MD: The John Hopkins University Press, OMIM number: {310600}. Accessed 2005. Available from:
    • Online Mendelian Inheritance in Man, OMIM (TM). Baltimore, MD: The John Hopkins University Press, 2005. OMIM number: {310600}. Accessed 2005. Available from: http://www.ncbi.nlm.nih.gov/omim
    • (2005) Online Mendelian Inheritance in Man OMIM, (TM)
  • 4
    • 0032745431 scopus 로고    scopus 로고
    • Norrie disease and exudative vitreoretinopathy in families with affected female carriers
    • Shastry BS, Hiraoka M, Trese DC etal. Norrie disease and exudative vitreoretinopathy in families with affected female carriers. Eur J Ophthalmol 1999; 9: 238-42.
    • (1999) Eur J Ophthalmol , vol.9 , pp. 238-242
    • Shastry, B.S.1    Hiraoka, M.2    Trese, D.C.3
  • 5
    • 0032837154 scopus 로고    scopus 로고
    • Coat's 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 etal. Coat's 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: 2031-5.
    • (1999) Hum Mol Genet , vol.8 , pp. 2031-2035
    • Black, G.C.1    Perveen, R.2    Bonshek, R.3
  • 6
    • 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 etal. Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. Arch Ophthalmol 1997; 115: 651-5.
    • (1997) Arch Ophthalmol , vol.115 , pp. 651-655
    • Shastry, B.S.1    Pendergast, S.D.2    Hartzer, M.K.3
  • 7
    • 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 etal. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 2004; 74: 721-30.
    • (2004) Am J Hum Genet , vol.74 , pp. 721-730
    • Toomes, C.1    Bottomley, H.M.2    Jackson, R.M.3
  • 8
    • 0344326932 scopus 로고    scopus 로고
    • Risk analysis of prethreshold retinopathy of prematurity
    • Hardy RJ, Palmer EA, Dobson V etal. Risk analysis of prethreshold retinopathy of prematurity. Arch Ophthalmol 2003; 121: 1697-701.
    • (2003) Arch Ophthalmol , vol.121 , pp. 1697-1701
    • Hardy, R.J.1    Palmer, E.A.2    Dobson, V.3
  • 9
    • 26944480099 scopus 로고    scopus 로고
    • Retinopathy of prematurity: Gone today, here tomorrow?
    • Good WV, Gendron RL. Retinopathy of prematurity: Gone today, here tomorrow? Clin Experiment Ophthalmol 2005; 33: 339-40.
    • (2005) Clin Experiment Ophthalmol , vol.33 , pp. 339-340
    • Good, W.V.1    Gendron, R.L.2
  • 10
    • 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 etal. 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: 178-81.
    • (2001) J Hum Genet , vol.46 , pp. 178-181
    • Hiraoka, M.1    Berinstein, D.M.2    Trese, M.T.3
  • 11
    • 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 etal. Missense mutations in norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti arabs. Biol Neonate 2000; 77: 88-91.
    • (2000) Biol Neonate , vol.77 , pp. 88-91
    • Haider, M.Z.1    Devarajan, L.V.2    Al-Essa, M.3
  • 12
    • 26244442311 scopus 로고    scopus 로고
    • Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity
    • Hutcheson K, Paluru P, Bernstein S etal. Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. Mol Vis 2005; 11: 501-8.
    • (2005) Mol Vis , vol.11 , pp. 501-508
    • Hutcheson, K.1    Paluru, P.2    Bernstein, S.3
  • 13
    • 0036985722 scopus 로고    scopus 로고
    • Mutations of the Norrie gene in Korean ROP infants
    • Kim JH, Yu YS, Kim J etal. Mutations of the Norrie gene in Korean ROP infants. Korean J Ophthalmol 2002; 16: 93-6.
    • (2002) Korean J Ophthalmol , vol.16 , pp. 93-96
    • Kim, J.H.1    Yu, Y.S.2    Kim, J.3
  • 14
    • 0029024216 scopus 로고
    • Mutations in the Norrie disease gene
    • Schuback DE, Chen ZY, Craig IW etal. Mutations in the Norrie disease gene. Hum Mutat 1995; 5: 285-92.
    • (1995) Hum Mutat , vol.5 , pp. 285-292
    • Schuback, D.E.1    Chen, Z.Y.2    Craig, I.W.3
  • 15
    • 17144469069 scopus 로고    scopus 로고
    • De novo mutations in the 5′ regulatory region of the Norrie disease gene in retinopathy of prematurity
    • Talks SJ, Ebenezer N, Hykin P etal. De novo mutations in the 5′ regulatory region of the Norrie disease gene in retinopathy of prematurity. J Med Genet 2001; 38: E46.
    • (2001) J Med Genet , vol.38
    • Talks, S.J.1    Ebenezer, N.2    Hykin, P.3
  • 16
    • 3142579195 scopus 로고    scopus 로고
    • Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy
    • Toomes C, Bottomley HM, Scott S etal. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2004; 45: 2083-90.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 2083-2090
    • Toomes, C.1    Bottomley, H.M.2    Scott, S.3
  • 17
    • 0026938038 scopus 로고
    • Mutations in the candidate gene for Norrie disease
    • Berger W, van de Pol D, Warburg M etal. Mutations in the candidate gene for Norrie disease. Hum Mol Genet 1992; 1: 461-5.
    • (1992) Hum Mol Genet , vol.1 , pp. 461-465
    • Berger, W.1    van de Pol, D.2    Warburg, M.3
  • 18
    • 33748580789 scopus 로고
    • Retrolental fibroplasia; A clinicopathologic study
    • Ryan H. Retrolental fibroplasia; a clinicopathologic study. Am J Ophthalmol 1952; 35: 329-42.
    • (1952) Am J Ophthalmol , vol.35 , pp. 329-342
    • Ryan, H.1
  • 19
    • 33748574670 scopus 로고    scopus 로고
    • Norrie disease
    • In: Traboulsi E, ed. New York: Oxford University Press
    • Traboulsi E. Norrie disease. In: Traboulsi E, ed. Genetic Diseases of the Eye. New York: Oxford University Press, 1998; 797-802.
    • (1998) Genetic Diseases of the Eye , pp. 797-802
    • Traboulsi, E.1
  • 20
    • 4644345559 scopus 로고    scopus 로고
    • NDP gene mutations in 14 French families with Norrie disease
    • Royer G, Hanein S, Raclin V etal. NDP gene mutations in 14 French families with Norrie disease. Hum Mutat 2003; 22: 499.
    • (2003) Hum Mutat , vol.22 , pp. 499
    • Royer, G.1    Hanein, S.2    Raclin, V.3
  • 21
    • 0030902358 scopus 로고    scopus 로고
    • Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy
    • Shastry BS, Hejtmancik JF, Trese MT. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat 1997; 9: 396-401.
    • (1997) Hum Mutat , vol.9 , pp. 396-401
    • Shastry, B.S.1    Hejtmancik, J.F.2    Trese, M.T.3
  • 22
    • 0026935145 scopus 로고
    • Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins
    • Meindl A, Berger W, Meitinger T etal. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat Genet 1992; 2: 139-43.
    • (1992) Nat Genet , vol.2 , pp. 139-143
    • Meindl, A.1    Berger, W.2    Meitinger, T.3
  • 23
    • 0036896476 scopus 로고    scopus 로고
    • Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family
    • Hatsukawa Y, Nakao T, Yamagishi T etal. Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family. Br J Ophthalmol 2002; 86: 1452-3.
    • (2002) Br J Ophthalmol , vol.86 , pp. 1452-1453
    • Hatsukawa, Y.1    Nakao, T.2    Yamagishi, T.3
  • 24
    • 0027377708 scopus 로고
    • Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure
    • Meitinger T, Meindl A, Bork P etal. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat Genet 1993; 5: 376-80.
    • (1993) Nat Genet , vol.5 , pp. 376-380
    • Meitinger, T.1    Meindl, A.2    Bork, P.3
  • 25
    • 0028901919 scopus 로고
    • Missense mutations in the NDP gene in patients with a less severe course of Norrie disease
    • Meindl A, Lorenz B, Achatz H etal. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. Hum Mol Genet 1995; 4: 489-90.
    • (1995) Hum Mol Genet , vol.4 , pp. 489-490
    • Meindl, A.1    Lorenz, B.2    Achatz, H.3
  • 26
    • 0031576265 scopus 로고    scopus 로고
    • Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy
    • Torrente I, Mangino M, Gennarelli M etal. Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. Am J Med Genet 1997; 72: 242-4.
    • (1997) Am J Med Genet , vol.72 , pp. 242-244
    • Torrente, I.1    Mangino, M.2    Gennarelli, M.3
  • 27
    • 0029154918 scopus 로고
    • Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy
    • Fuchs S, Kellner U, Wedemann H etal. Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. Hum Mutat 1995; 6: 257-9.
    • (1995) Hum Mutat , vol.6 , pp. 257-259
    • Fuchs, S.1    Kellner, U.2    Wedemann, H.3
  • 28
    • 0035377475 scopus 로고    scopus 로고
    • Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype
    • Suarez-Merino B, Bye J, McDowall J etal. Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype. Hum Mutat 2001; 17: 523.
    • (2001) Hum Mutat , vol.17 , pp. 523
    • Suarez-Merino, B.1    Bye, J.2    McDowall, J.3
  • 29
    • 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 etal. A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. Am J Hum Genet 2001; 68: 778-81.
    • (2001) Am J Hum Genet , vol.68 , pp. 778-781
    • Downey, L.M.1    Keen, T.J.2    Roberts, E.3
  • 30
    • 0036654418 scopus 로고    scopus 로고
    • A C597->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants
    • Haider MZ, Devarajan LV, Al-Essa M etal. A C597->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants. J Biomed Sci 2002; 9: 365-70.
    • (2002) J Biomed Sci , vol.9 , pp. 365-370
    • Haider, M.Z.1    Devarajan, L.V.2    Al-Essa, M.3
  • 31
    • 0033580274 scopus 로고    scopus 로고
    • Analysis of the 5′ regulatory region of the human Norrie's disease gene: Evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression
    • Kenyon JR, Craig IW. Analysis of the 5′ regulatory region of the human Norrie's disease gene: Evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression. Gene 1999; 227: 181-8.
    • (1999) Gene , vol.227 , pp. 181-188
    • Kenyon, J.R.1    Craig, I.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.