메뉴 건너뛰기




Volumn 31, Issue 1-2, 2016, Pages 49-52

Course of ocular function in PRPF31 retinitis pigmentosa

Author keywords

Inherited retinal degeneration; Retinitis pigmentosa; RNA splicing factor

Indexed keywords

RNA; EYE PROTEIN; PRPF31 PROTEIN, HUMAN;

EID: 84962133951     PISSN: 08820538     EISSN: 17445205     Source Type: Journal    
DOI: 10.3109/08820538.2015.1114856     Document Type: Review
Times cited : (22)

References (17)
  • 1
    • 33846957381 scopus 로고    scopus 로고
    • Perspective on genes and mutations causing retinitis pigmentosa
    • Daiger SP, Bowne, SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007;125(2):151-158.
    • (2007) Arch Ophthalmol , vol.125 , Issue.2 , pp. 151-158
    • Daiger, S.P.1    Bowne, S.J.2    Sullivan, L.S.3
  • 2
  • 3
    • 84884559802 scopus 로고    scopus 로고
    • Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa
    • Sullivan LS, Bowne SJ, Reeves MJ, et al. Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013;54(9):6255-6261.
    • (2013) Invest Ophthalmol Vis Sci , vol.54 , Issue.9 , pp. 6255-6261
    • Sullivan, L.S.1    Bowne, S.J.2    Reeves, M.J.3
  • 4
    • 41849140523 scopus 로고    scopus 로고
    • Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay
    • Rio Frio T, Wade NM, Ransijn A, et al. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 2008;118(4):1519-1531.
    • (2008) J Clin Invest , vol.118 , Issue.4 , pp. 1519-1531
    • Rio Frio, T.1    Wade, N.M.2    Ransijn, A.3
  • 5
    • 0141765726 scopus 로고    scopus 로고
    • Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: A molecular clue for incomplete penetrance
    • Vithana EN, Abu-Safieh L, Pelosini L, et al. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: A molecular clue for incomplete penetrance? Invest Ophthalmol Vis Sci 2003; 44(10):4204-4209.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , Issue.10 , pp. 4204-4209
    • Vithana, E.N.1    Abu-Safieh, L.2    Pelosini, L.3
  • 6
    • 0030731399 scopus 로고    scopus 로고
    • Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
    • McGee TL, Devoto M, Ott J, et al. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet 1997; 61(5):1059-1066.
    • (1997) Am J Hum Genet , vol.61 , Issue.5 , pp. 1059-1066
    • McGee, T.L.1    Devoto, M.2    Ott, J.3
  • 7
    • 84922473321 scopus 로고    scopus 로고
    • Mutations in PremRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium
    • Farkas MH, Lew DS, Sousa ME, et al. Mutations in PremRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Am J Pathol 2014;184(10): 2641-2652.
    • (2014) Am J Pathol , vol.184 , Issue.10 , pp. 2641-2652
    • Farkas, M.H.1    Lew, D.S.2    Sousa, M.E.3
  • 8
    • 33644877973 scopus 로고    scopus 로고
    • Shortterm inter-visit variability of ERG amplitudes in normal subjects and patients with retinitis pigmentosa
    • Fishman GA, Chappelow AV, Anderson RJ, et al. Shortterm inter-visit variability of ERG amplitudes in normal subjects and patients with retinitis pigmentosa. Retina 2005;25(8):1014-1021.
    • (2005) Retina , vol.25 , Issue.8 , pp. 1014-1021
    • Fishman, G.A.1    Chappelow, A.V.2    Anderson, R.J.3
  • 9
    • 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(21):2240-2248.
    • (2008) N Engl J Med , vol.358 , Issue.21 , pp. 2240-2248
    • Maguire, A.M.1    Simonelli, F.2    Pierce, E.A.3
  • 10
    • 21944438607 scopus 로고    scopus 로고
    • Test-retest reliability of the multifocal electroretinogram and humphrey visual fields in patients with retinitis pigmentosa
    • Seiple W, Clemens CJ, Greenstein VC, et al. Test-retest reliability of the multifocal electroretinogram and humphrey visual fields in patients with retinitis pigmentosa. Doc Ophthalmol 2004;109(3):255-272.
    • (2004) Doc Ophthalmol , vol.109 , Issue.3 , pp. 255-272
    • Seiple, W.1    Clemens, C.J.2    Greenstein, V.C.3
  • 11
    • 84908700344 scopus 로고    scopus 로고
    • Wide-field fundus autofluorescence imaging to evaluate retinal function in patients with retinitis pigmentosa
    • Ogura S, Yasukawa T, Kato A, et al. Wide-field fundus autofluorescence imaging to evaluate retinal function in patients with retinitis pigmentosa. Am J Ophthalmol 2014; 158(5):1093-1098.
    • (2014) Am J Ophthalmol , vol.158 , Issue.5 , pp. 1093-1098
    • Ogura, S.1    Yasukawa, T.2    Kato, A.3
  • 12
    • 0021993263 scopus 로고
    • Natural course of retinitis pigmentosa over a three-year interval
    • Berson EL, Sandberg MA, Rosner B, et al. Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 1985;99(3):240-251.
    • (1985) Am J Ophthalmol , vol.99 , Issue.3 , pp. 240-251
    • Berson, E.L.1    Sandberg, M.A.2    Rosner, B.3
  • 13
    • 0038321445 scopus 로고    scopus 로고
    • Variability of fullfield electroretinogram responses in subjects without diffuse photoreceptor cell disease
    • Grover S, Fishman GA, Birch DG, et al. Variability of fullfield electroretinogram responses in subjects without diffuse photoreceptor cell disease. Ophthalmology 2003; 110(6):1159-1163.
    • (2003) Ophthalmology , vol.110 , Issue.6 , pp. 1159-1163
    • Grover, S.1    Fishman, G.A.2    Birch, D.G.3
  • 14
    • 84884559060 scopus 로고    scopus 로고
    • Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa
    • Birch DG, Locke KG, Wen Y, et al. Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa. JAMA Ophthalmol 2013;131(9):1143-1150.
    • (2013) JAMA Ophthalmol , vol.131 , Issue.9 , pp. 1143-1150
    • Birch, D.G.1    Locke, K.G.2    Wen, Y.3
  • 15
    • 84912124528 scopus 로고    scopus 로고
    • A comparison of methods for tracking progression in X-linked retinitis pigmentosa using frequency domain OCT
    • Ramachandran R, Zhou L, Locke KG, et al. A comparison of methods for tracking progression in X-linked retinitis pigmentosa using frequency domain OCT. Transl Vis Sci Technol 2013;2(7):5.
    • (2013) Transl Vis Sci Technol , vol.2 , Issue.7 , pp. 5
    • Ramachandran, R.1    Zhou, L.2    Locke, K.G.3
  • 16
    • 49049104420 scopus 로고    scopus 로고
    • A new method to monitor visual field defects caused by photoreceptor degeneration by quantitative optical coherence tomography
    • Fischer MD, Fleischhauer JC, Gillies MC, et al. A new method to monitor visual field defects caused by photoreceptor degeneration by quantitative optical coherence tomography. Invest Ophthalmol Vis Sci 2008;49(8):3617-3621.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , Issue.8 , pp. 3617-3621
    • Fischer, M.D.1    Fleischhauer, J.C.2    Gillies, M.C.3
  • 17
    • 84897051037 scopus 로고    scopus 로고
    • Retinal gene therapy in patients with choroideremia: Initial findings from a phase 1/2 clinical trial
    • MacLaren RE, Groppe M, Barnard AR, et al. Retinal gene therapy in patients with choroideremia: Initial findings from a phase 1/2 clinical trial. Lancet 2014; 383(9923):1129-1137.
    • (2014) Lancet , vol.383 , Issue.9923 , pp. 1129-1137
    • MacLaren, R.E.1    Groppe, M.2    Barnard, A.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.