메뉴 건너뛰기




Volumn 84, Issue 2, 2013, Pages 99-101

The golden era of ocular disease gene discovery: Race to the finish

Author keywords

Clinical management; Genetics; Next generation sequencing; Ocular disease; Therapies; Vision

Indexed keywords

EYE DISEASE; GENE; GENE SEQUENCE; GENE THERAPY; GENETICS; HUMAN; LEBER CONGENITAL AMAUROSIS; NOTE; PRIORITY JOURNAL; VISUAL DISORDER;

EID: 84880176751     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12204     Document Type: Note
Times cited : (11)

References (31)
  • 1
    • 0021344697 scopus 로고
    • Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
    • Bhattacharya SS, Wright AF, Clayton JF et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 1984: 309: 253-255.
    • (1984) Nature , vol.309 , pp. 253-255
    • Bhattacharya, S.S.1    Wright, A.F.2    Clayton, J.F.3
  • 2
    • 0021839541 scopus 로고
    • Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
    • Francke U, Ochs HD, de Martinville B et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 1985: 37: 250-267.
    • (1985) Am J Hum Genet , vol.37 , pp. 250-267
    • Francke, U.1    Ochs, H.D.2    de Martinville, B.3
  • 3
    • 0022506980 scopus 로고
    • A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
    • Friend SH, Bernards R, Rogelj S et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986: 323: 643-646.
    • (1986) Nature , vol.323 , pp. 643-646
    • Friend, S.H.1    Bernards, R.2    Rogelj, S.3
  • 4
    • 0023106062 scopus 로고
    • Human retinoblastoma susceptibility gene: cloning, identification, and sequence
    • Lee WH, Bookstein R, Hong F, Young LJ, Shew JY, Lee EY. Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science 1987: 235: 1394-1399.
    • (1987) Science , vol.235 , pp. 1394-1399
    • Lee, W.H.1    Bookstein, R.2    Hong, F.3    Young, L.J.4    Shew, J.Y.5    Lee, E.Y.6
  • 5
    • 0022695490 scopus 로고
    • Molecular genetics of human color vision: the genes encoding blue, green, and red pigments
    • Nathans J, Thomas D, Hogness DS. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 1986: 232: 193-202.
    • (1986) Science , vol.232 , pp. 193-202
    • Nathans, J.1    Thomas, D.2    Hogness, D.S.3
  • 6
    • 0025146417 scopus 로고
    • Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q
    • Blanton SH, Cottingham AW, Giesenschlag N, Heckenlively JR, Humphries P, Daiger SP. Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q. Genomics 1990: 8: 179-181.
    • (1990) Genomics , vol.8 , pp. 179-181
    • Blanton, S.H.1    Cottingham, A.W.2    Giesenschlag, N.3    Heckenlively, J.R.4    Humphries, P.5    Daiger, S.P.6
  • 7
    • 0025105161 scopus 로고
    • A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    • Dryja TP, McGee TL, Reichel E et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990: 343: 364-366.
    • (1990) Nature , vol.343 , pp. 364-366
    • Dryja, T.P.1    McGee, T.L.2    Reichel, E.3
  • 9
    • 80053531148 scopus 로고    scopus 로고
    • Modeling human disease in humans: the ciliopathies
    • Novarino G, Akizu N, Gleeson JG. Modeling human disease in humans: the ciliopathies. Cell 2011: 147: 70-79.
    • (2011) Cell , vol.147 , pp. 70-79
    • Novarino, G.1    Akizu, N.2    Gleeson, J.G.3
  • 10
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein RJ, Zeiss C, Chew EY et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005: 308: 385-389.
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1    Zeiss, C.2    Chew, E.Y.3
  • 11
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of age-related macular degeneration
    • Haines JL, Hauser MA, Schmidt S et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005: 308: 419-421.
    • (2005) Science , vol.308 , pp. 419-421
    • Haines, J.L.1    Hauser, M.A.2    Schmidt, S.3
  • 13
    • 20544471911 scopus 로고    scopus 로고
    • Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration
    • Zareparsi S, Branham KE, Li M et al. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet 2005: 77: 149-153.
    • (2005) Am J Hum Genet , vol.77 , pp. 149-153
    • Zareparsi, S.1    Branham, K.E.2    Li, M.3
  • 14
    • 21044453724 scopus 로고    scopus 로고
    • A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
    • Hageman GS, Anderson DH, Johnson LV et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 2005: 102: 7227-7232.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 7227-7232
    • Hageman, G.S.1    Anderson, D.H.2    Johnson, L.V.3
  • 15
    • 0035819474 scopus 로고    scopus 로고
    • Implications of the Human Genome Project for medical science
    • Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA 2001: 285: 540-544.
    • (2001) JAMA , vol.285 , pp. 540-544
    • Collins, F.S.1    McKusick, V.A.2
  • 16
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • International HapMap Consortium.
    • International HapMap Consortium. The International HapMap Project. Nature 2003: 426: 789-796.
    • (2003) Nature , vol.426 , pp. 789-796
  • 17
    • 77952147434 scopus 로고    scopus 로고
    • Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
    • Chen W, Stambolian D, Edwards AO et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci USA 2010: 107: 7401-7406.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 7401-7406
    • Chen, W.1    Stambolian, D.2    Edwards, A.O.3
  • 18
    • 84875706378 scopus 로고    scopus 로고
    • Seven new loci associated with age-related macular degeneration
    • AMD Gene Consortium.
    • AMD Gene Consortium. Seven new loci associated with age-related macular degeneration. Nat Genet 2013: 45: 433-439.
    • (2013) Nat Genet , vol.45 , pp. 433-439
  • 19
    • 77952120581 scopus 로고    scopus 로고
    • Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
    • Neale BM, Fagerness J, Reynolds R et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci USA 2010: 107: 7395-7400.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 7395-7400
    • Neale, B.M.1    Fagerness, J.2    Reynolds, R.3
  • 20
    • 84879627975 scopus 로고    scopus 로고
    • Next-generation sequencing platforms
    • Apr 1. [Epub ahead of print]. PMID: 23560931.
    • Mardis ER. Next-generation sequencing platforms. Annu Rev Anal Chem 2013: Apr 1. [Epub ahead of print]. PMID: 23560931.
    • (2013) Annu Rev Anal Chem
    • Mardis, E.R.1
  • 21
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies-the next generation
    • Metzker ML. Sequencing technologies-the next generation. Nat Rev Genet 2010: 11: 31-46.
    • (2010) Nat Rev Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 22
    • 77953808473 scopus 로고    scopus 로고
    • Next-generation genomics: an integrative approach
    • Hawkins RD, Hon GC, Ren B. Next-generation genomics: an integrative approach. Nat Rev Genet 2010: 11: 476-486.
    • (2010) Nat Rev Genet , vol.11 , pp. 476-486
    • Hawkins, R.D.1    Hon, G.C.2    Ren, B.3
  • 23
    • 84869429716 scopus 로고    scopus 로고
    • Assuring the quality of next-generation sequencing in clinical laboratory practice
    • Gargis AS, Kalman L, Berry MW et al. Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol 2012: 30: 1033-1036.
    • (2012) Nat Biotechnol , vol.30 , pp. 1033-1036
    • Gargis, A.S.1    Kalman, L.2    Berry, M.W.3
  • 25
    • 84877999280 scopus 로고    scopus 로고
    • Molecular genetic testing and the future of clinical genomics
    • Katsanis SH, Katsanis N. Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 2013: 14: 415-426.
    • (2013) Nat Rev Genet , vol.14 , pp. 415-426
    • Katsanis, S.H.1    Katsanis, N.2
  • 26
    • 80051968181 scopus 로고    scopus 로고
    • Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
    • Cooper GM, Shendure J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet 2011: 12: 628-640.
    • (2011) Nat Rev Genet , vol.12 , pp. 628-640
    • Cooper, G.M.1    Shendure, J.2
  • 27
    • 44249085878 scopus 로고    scopus 로고
    • Safety and efficacy of gene transfer for Leber's congenital amaurosis
    • Maguire AM, Simonelli F, Pierce EA et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 2008: 358: 2240-2248.
    • (2008) N Engl J Med , vol.358 , pp. 2240-2248
    • Maguire, A.M.1    Simonelli, F.2    Pierce, E.A.3
  • 28
    • 44249120315 scopus 로고    scopus 로고
    • Effect of gene therapy on visual function in Leber's congenital amaurosis
    • Bainbridge JW, Smith AJ, Barker SS et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 2008: 358: 2231-2239.
    • (2008) N Engl J Med , vol.358 , pp. 2231-2239
    • Bainbridge, J.W.1    Smith, A.J.2    Barker, S.S.3
  • 29
    • 54949104686 scopus 로고    scopus 로고
    • Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial
    • Hauswirth WW, Aleman TS, Kaushal S et al. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther 2008: 19: 979-990.
    • (2008) Hum Gene Ther , vol.19 , pp. 979-990
    • Hauswirth, W.W.1    Aleman, T.S.2    Kaushal, S.3
  • 30
    • 84855611189 scopus 로고    scopus 로고
    • Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years
    • Jacobson SG, Cideciyan AV, Ratnakaram R et al. Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol 2012: 130: 9-24.
    • (2012) Arch Ophthalmol , vol.130 , pp. 9-24
    • Jacobson, S.G.1    Cideciyan, A.V.2    Ratnakaram, R.3
  • 31
    • 84873453664 scopus 로고    scopus 로고
    • Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
    • Cideciyan AV, Jacobson SG, Beltran WA et al. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci USA 2013: 110: E517-E525.
    • (2013) Proc Natl Acad Sci USA , vol.110
    • Cideciyan, A.V.1    Jacobson, S.G.2    Beltran, W.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.