메뉴 건너뛰기




Volumn 53, Issue 8, 2012, Pages 4754-4764

Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; NR2E3-P.G56R MUTANT PROTEIN; UNCLASSIFIED DRUG; NR2E3 PROTEIN, HUMAN; ORPHAN NUCLEAR RECEPTOR;

EID: 84866785423     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-8693     Document Type: Article
Times cited : (28)

References (42)
  • 1
    • 0033608979 scopus 로고    scopus 로고
    • Identification of a photoreceptor cell-specific nuclear receptor
    • Kobayashi M, Takezawa S, Hara K, et al. Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci USA. 1999;96:4814-4819.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 4814-4819
    • Kobayashi, M.1    Takezawa, S.2    Hara, K.3
  • 2
    • 33947413863 scopus 로고    scopus 로고
    • The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation
    • Haider NB, Demarco P, Nystuen AM, et al. The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Vis Neurosci. 2006;23:917-929.
    • (2006) Vis Neurosci , vol.23 , pp. 917-929
    • Haider, N.B.1    Demarco, P.2    Nystuen, A.M.3
  • 3
    • 4344665205 scopus 로고    scopus 로고
    • Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors
    • Cheng H, Khanna H, Oh EC, Hicks D, Mitton KP, Swaroop A. Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Hum Mol Genet. 2004;13:1563-1575.
    • (2004) Hum Mol Genet , vol.13 , pp. 1563-1575
    • Cheng, H.1    Khanna, H.2    Oh, E.C.3    Hicks, D.4    Mitton, K.P.5    Swaroop, A.6
  • 4
    • 12144269981 scopus 로고    scopus 로고
    • The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes
    • Chen J, Rattner A, Nathans J. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. J Neurosci. 2005;25:118-129.
    • (2005) J Neurosci , vol.25 , pp. 118-129
    • Chen, J.1    Rattner, A.2    Nathans, J.3
  • 5
    • 15544371180 scopus 로고    scopus 로고
    • The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes
    • Peng GH, Ahmad O, Ahmad F, Liu J, Chen S. The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. Hum Mol Genet. 2005;14:747-764.
    • (2005) Hum Mol Genet , vol.14 , pp. 747-764
    • Peng, G.H.1    Ahmad, O.2    Ahmad, F.3    Liu, J.4    Chen, S.5
  • 6
    • 58549108816 scopus 로고    scopus 로고
    • Pias3-dependent SUMOylation directs rod photoreceptor development
    • Onishi A, Peng GH, Hsu C, Alexis U, Chen S, Blackshaw S. Pias3-dependent SUMOylation directs rod photoreceptor development. Neuron. 2009;61:234-246.
    • (2009) Neuron , vol.61 , pp. 234-246
    • Onishi, A.1    Peng, G.H.2    Hsu, C.3    Alexis, U.4    Chen, S.5    Blackshaw, S.6
  • 7
    • 4544267698 scopus 로고    scopus 로고
    • Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration
    • Jacobson SG, Sumaroka A, Aleman TS, et al. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet. 2004;13:1893-1902.
    • (2004) Hum Mol Genet , vol.13 , pp. 1893-1902
    • Jacobson, S.G.1    Sumaroka, A.2    Aleman, T.S.3
  • 8
    • 33144472133 scopus 로고    scopus 로고
    • A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome
    • Corbo JC, Cepko CL. A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. PLoS Genet. 2005;1:e11.
    • (2005) PLoS Genet , vol.1
    • Corbo, J.C.1    Cepko, C.L.2
  • 9
    • 70350707762 scopus 로고    scopus 로고
    • NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)
    • Schorderet DF, Escher P. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat. 2009;30:1475-1485.
    • (2009) Hum Mutat , vol.30 , pp. 1475-1485
    • Schorderet, D.F.1    Escher, P.2
  • 10
    • 0025333641 scopus 로고
    • Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity
    • Marmor MF, Jacobson SG, Foerster MH, Kellner U, Weleber RG. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol. 1990;110:124-134.
    • (1990) Am J Ophthalmol , vol.110 , pp. 124-134
    • Marmor, M.F.1    Jacobson, S.G.2    Foerster, M.H.3    Kellner, U.4    Weleber, R.G.5
  • 11
    • 0033975061 scopus 로고    scopus 로고
    • Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
    • Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000;24: 127-131.
    • (2000) Nat Genet , vol.24 , pp. 127-131
    • Haider, N.B.1    Jacobson, S.G.2    Cideciyan, A.V.3
  • 12
    • 0033772292 scopus 로고    scopus 로고
    • The photoreceptor cellspecific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
    • Gerber S, Rozet JM, Takezawa SI, et al. The photoreceptor cellspecific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. Hum Genet. 2000;107: 276-284.
    • (2000) Hum Genet , vol.107 , pp. 276-284
    • Gerber, S.1    Rozet, J.M.2    Takezawa, S.I.3
  • 13
    • 0141722455 scopus 로고    scopus 로고
    • Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration
    • Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja T. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003;121:1316-1323.
    • (2003) Arch Ophthalmol , vol.121 , pp. 1316-1323
    • Sharon, D.1    Sandberg, M.A.2    Caruso, R.C.3    Berson, E.L.4    Dryja, T.5
  • 17
    • 34347263433 scopus 로고    scopus 로고
    • Recurrent mutation inthe first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
    • Coppieters F, Leroy BP, Beysen D, et al. Recurrent mutation inthe first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet. 2007;81:147-157.
    • (2007) Am J Hum Genet , vol.81 , pp. 147-157
    • Coppieters, F.1    Leroy, B.P.2    Beysen, D.3
  • 18
    • 35548955491 scopus 로고    scopus 로고
    • The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa
    • Gire AI, Sullivan LS, Bowne SJ, et al. The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol Vis. 2007;13:1970-1975.
    • (2007) Mol Vis , vol.13 , pp. 1970-1975
    • Gire, A.I.1    Sullivan, L.S.2    Bowne, S.J.3
  • 19
    • 61649107865 scopus 로고    scopus 로고
    • Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
    • Escher P, Gouras P, Roduit R, et al. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. Hum Mutat. 2009;30:342-351.
    • (2009) Hum Mutat , vol.30 , pp. 342-351
    • Escher, P.1    Gouras, P.2    Roduit, R.3
  • 20
    • 77951232400 scopus 로고    scopus 로고
    • Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinesepopulation
    • Yang Y, Zhang X, Chen LJ, et al. Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinesepopulation. Invest Ophthalmol Vis Sci. 2010;51:2229-2235.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 2229-2235
    • Yang, Y.1    Zhang, X.2    Chen, L.J.3
  • 21
    • 84856092778 scopus 로고    scopus 로고
    • Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
    • Audo I, Bujakowska KM, Leveillard T, et al. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis. 2012;7:8.
    • (2012) Orphanet J Rare Dis , vol.7 , pp. 8
    • Audo, I.1    Bujakowska, K.M.2    Leveillard, T.3
  • 22
    • 70350716547 scopus 로고    scopus 로고
    • Mutations in the DNA-binding domain affect in vivo NR2E3 dimerization and interaction with CRX
    • Roduit R, Escher P, Schorderet DF. Mutations in the DNA-binding domain affect in vivo NR2E3 dimerization and interaction with CRX. PLoS One. 2009;4:e7379.
    • (2009) PLoS One , vol.4
    • Roduit, R.1    Escher, P.2    Schorderet, D.F.3
  • 23
    • 0030669568 scopus 로고    scopus 로고
    • Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
    • Freund CL, Gregory-Evans CY, Furukawa T, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell. 1997;91:543-553.
    • (1997) Cell , vol.91 , pp. 543-553
    • Freund, C.L.1    Gregory-Evans, C.Y.2    Furukawa, T.3
  • 24
    • 0032037626 scopus 로고    scopus 로고
    • De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
    • Freund CL, Wang QL, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet. 1998;18:311-312.
    • (1998) Nat Genet , vol.18 , pp. 311-312
    • Freund, C.L.1    Wang, Q.L.2    Chen, S.3
  • 26
    • 33748095982 scopus 로고    scopus 로고
    • Near-infrared autofluorescence imaging of the fundus: Visualization of ocular melanin
    • Keilhauer CN, Delori FC. Near-infrared autofluorescence imaging of the fundus: visualization of ocular melanin. Invest Ophthalmol Vis Sci. 2006;47:3556-3564.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 3556-3564
    • Keilhauer, C.N.1    Delori, F.C.2
  • 27
    • 59049100882 scopus 로고    scopus 로고
    • ISCEV Standard for full-field clinical electroretinography (2008 update)
    • Marmor MF, Fulton AB, Holder GE, et al. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118:69-77.
    • (2009) Doc Ophthalmol , vol.118 , pp. 69-77
    • Marmor, M.F.1    Fulton, A.B.2    Holder, G.E.3
  • 29
    • 77952310597 scopus 로고    scopus 로고
    • Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene
    • Vaclavik V, Gaillard MC, Tiab L, Schorderet DF, Munier FL. Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene. Mol Vis. 2010;16:467-475.
    • (2010) Mol Vis , vol.16 , pp. 467-475
    • Vaclavik, V.1    Gaillard, M.C.2    Tiab, L.3    Schorderet, D.F.4    Munier, F.L.5
  • 30
    • 77957360552 scopus 로고    scopus 로고
    • The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone and macular dystrophy
    • Michaelides M, Gaillard MC, Escher P, et al. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone and macular dystrophy. Invest Ophthalmol Vis Sci. 2010;51:4771-4780.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 4771-4780
    • Michaelides, M.1    Gaillard, M.C.2    Escher, P.3
  • 31
    • 67650663974 scopus 로고    scopus 로고
    • Lipofuscin and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa
    • Kellner U, Kellner S, Weber BH, Fiebig B, Weinitz S, Ruether K. Lipofuscin and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa. Eye. 2009;23:1349-1359.
    • (2009) Eye , vol.23 , pp. 1349-1359
    • Kellner, U.1    Kellner, S.2    Weber, B.H.3    Fiebig, B.4    Weinitz, S.5    Ruether, K.6
  • 32
    • 0041342084 scopus 로고    scopus 로고
    • Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity
    • Robson AG, El-Amir A, Bailey C, et al. Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Invest Ophthalmol Vis Sci. 2003;44:3544-3550.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 3544-3550
    • Robson, A.G.1    El-Amir, A.2    Bailey, C.3
  • 33
    • 33645292904 scopus 로고    scopus 로고
    • Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity
    • Robson AG, Saihan Z, Jenkins SA, et al. Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Br J Ophthalmol. 2006;90:472-479.
    • (2006) Br J Ophthalmol , vol.90 , pp. 472-479
    • Robson, A.G.1    Saihan, Z.2    Jenkins, S.A.3
  • 34
    • 84855310163 scopus 로고    scopus 로고
    • Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ring
    • Lenassi E, Troeger E, Wilke R, Hawlina M. Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ring. Invest Ophthalmol Vis Sci. 2012;53:47-52.
    • (2012) Invest Ophthalmol Vis Sci , vol.53 , pp. 47-52
    • Lenassi, E.1    Troeger, E.2    Wilke, R.3    Hawlina, M.4
  • 35
    • 39649091008 scopus 로고    scopus 로고
    • Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update
    • Robson AG, Michaelides M, Saihan Z, et al. Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Doc Ophthalmol. 2008;116: 79-89.
    • (2008) Doc Ophthalmol , vol.116 , pp. 79-89
    • Robson, A.G.1    Michaelides, M.2    Saihan, Z.3
  • 36
    • 80052444426 scopus 로고    scopus 로고
    • Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa
    • Robson AG, Tufail A, Fitzke F, et al. Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa. Retina. 2011;31: 1670-1679.
    • (2011) Retina , vol.31 , pp. 1670-1679
    • Robson, A.G.1    Tufail, A.2    Fitzke, F.3
  • 37
    • 40849083512 scopus 로고    scopus 로고
    • Association between abnormal autofluorescence and photoreceptor disorganization in retinitis pigmentosa
    • Murakami T, Akimoto M, Ooto S, et al. Association between abnormal autofluorescence and photoreceptor disorganization in retinitis pigmentosa. Am J Ophthalmol. 2008;145:687-694.
    • (2008) Am J Ophthalmol , pp. 687-694
    • Murakami, T.1    Akimoto, M.2    Ooto, S.3
  • 38
    • 77954636741 scopus 로고    scopus 로고
    • Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa
    • Wakabayashi T, Sawa M, Gomi F, Tsujikawa M. Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa. Acta Ophthalmol. 2010;88:e177-e183.
    • (2010) Acta Ophthalmol , vol.88
    • Wakabayashi, T.1    Sawa, M.2    Gomi, F.3    Tsujikawa, M.4
  • 39
    • 6944248891 scopus 로고    scopus 로고
    • Comparison of fundus autofluorescence with photopic and scotopic fine-matrix mapping in patients with retinitis pigmentosa and normal visual acuity
    • Robson AG, Egan CA, Luong VA, Bird AC, Holder GE, Fitzke FW. Comparison of fundus autofluorescence with photopic and scotopic fine-matrix mapping in patients with retinitis pigmentosa and normal visual acuity. Invest Ophthalmol Vis Sci. 2004;45:4119-4125.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 4119-4125
    • Robson, A.G.1    Egan, C.A.2    Luong, V.A.3    Bird, A.C.4    Holder, G.E.5    Fitzke, F.W.6
  • 40
    • 27744527235 scopus 로고    scopus 로고
    • Abnormal fundus autofluorescence in relation to retinal function in patients with retinitis pigmentosa
    • Popovic P, Jarc-Vidmar M, Hawlina M. Abnormal fundus autofluorescence in relation to retinal function in patients with retinitis pigmentosa. Graefes Arch Clin Exp Ophthalmol. 2005;243:1018-1027.
    • (2005) Graefes Arch Clin Exp Ophthalmol , vol.243 , pp. 1018-1027
    • Popovic, P.1    Jarc-Vidmar, M.2    Hawlina, M.3
  • 41
    • 62449289250 scopus 로고    scopus 로고
    • The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients
    • Bandah D, Merin S, Ashhab M, Banin E, Sharon D. The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. Arch Ophthalmol. 2009;127: 297-302.
    • (2009) Arch Ophthalmol , vol.127 , pp. 297-302
    • Bandah, D.1    Merin, S.2    Ashhab, M.3    Banin, E.4    Sharon, D.5
  • 42
    • 70249134052 scopus 로고    scopus 로고
    • Cellular origin of fundus autofluorescence in patients and mice with defective NR2E3 Gene
    • Wang NK, Fine H, Chang S, et al. Cellular origin of fundus autofluorescence in patients and mice with defective NR2E3 Gene. Br J Ophthalmol. 2009;93:1234-1240.
    • (2009) Br J Ophthalmol , vol.93 , pp. 1234-1240
    • Wang, N.K.1    Fine, H.2    Chang, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.