메뉴 건너뛰기




Volumn 8, Issue 2, 2015, Pages 109-129

Biology and therapy of inherited retinal degenerative disease: Insights from mouse models

Author keywords

Mouse mutants; Photoreceptor; Retinal development; Retinal disease

Indexed keywords

BLINDNESS; CELL THERAPY; GENE THERAPY; HEREDITY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MOUSE MODEL; NONHUMAN; PHENOTYPE; PHOTOTRANSDUCTION; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DEGENERATION; RETINOSCHISIS; REVIEW; STARGARDT DISEASE; SYNAPTIC TRANSMISSION; ANIMAL; DISEASE MODEL; GENETIC DISEASES, INBORN; MOUSE; PATHOLOGY; PATHOPHYSIOLOGY; PHOTORECEPTOR CELL; RETINA; RETINAL DEGENERATION;

EID: 84922507236     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.017913     Document Type: Review
Times cited : (201)

References (303)
  • 2
    • 0028123090 scopus 로고
    • Increased vascular endothelial growth factor levels in the vitreous of eyes with proliferative diabetic retinopathy
    • Adamis, A. P., Miller, J. W., Bernal, M. T., D'Amico, D. J., Folkman, J., Yeo, T. K. and Yeo, K. T. (1994). Increased vascular endothelial growth factor levels in the vitreous of eyes with proliferative diabetic retinopathy. Am. J. Ophthalmol. 118, 445-450.
    • (1994) Am. J. Ophthalmol. , vol.118 , pp. 445-450
    • Adamis, A.P.1    Miller, J.W.2    Bernal, M.T.3    D'Amico, D.J.4    Folkman, J.5    Yeo, T.K.6    Yeo, K.T.7
  • 3
    • 51349148504 scopus 로고    scopus 로고
    • Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids
    • Agbaga, M. P., Brush, R. S., Mandal, M. N., Henry, K., Elliott, M. H. and Anderson, R. E. (2008). Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids. Proc. Natl. Acad. Sci. USA 105, 12843-12848.
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , pp. 12843-12848
    • Agbaga, M.P.1    Brush, R.S.2    Mandal, M.N.3    Henry, K.4    Elliott, M.H.5    Anderson, R.E.6
  • 7
    • 0031230466 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • Allikmets, R. (1997). A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet. 17, 122.
    • (1997) Nat. Genet. , vol.17 , pp. 122
    • Allikmets, R.1
  • 8
    • 78649469328 scopus 로고    scopus 로고
    • Analysis of the retina in the zebrafish model
    • Avanesov, A. and Malicki, J. (2010). Analysis of the retina in the zebrafish model. Methods Cell Biol. 100, 153-204.
    • (2010) Methods Cell Biol. , vol.100 , pp. 153-204
    • Avanesov, A.1    Malicki, J.2
  • 13
    • 0036241136 scopus 로고    scopus 로고
    • Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer
    • Ball, S. L., Powers, P. A., Shin, H. S., Morgans, C. W., Peachey, N. S. and Gregg, R. G. (2002). Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer. Invest. Ophthalmol. Vis. Sci. 43, 1595-1603.
    • (2002) Invest. Ophthalmol. Vis. Sci. , vol.43 , pp. 1595-1603
    • Ball, S.L.1    Powers, P.A.2    Shin, H.S.3    Morgans, C.W.4    Peachey, N.S.5    Gregg, R.G.6
  • 15
    • 0035022297 scopus 로고    scopus 로고
    • Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa
    • Bareil, C., Hamel, C. P., Delague, V., Arnaud, B., Demaille, J. and Claustres, M. (2001). Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum. Genet. 108, 328-334.
    • (2001) Hum. Genet. , vol.108 , pp. 328-334
    • Bareil, C.1    Hamel, C.P.2    Delague, V.3    Arnaud, B.4    Demaille, J.5    Claustres, M.6
  • 16
    • 84901455140 scopus 로고    scopus 로고
    • Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development
    • Barker, A. R., Thomas, R. and Dawe, H. R. (2014). Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis 10, 96-107.
    • (2014) Organogenesis , vol.10 , pp. 96-107
    • Barker, A.R.1    Thomas, R.2    Dawe, H.R.3
  • 18
    • 0029893012 scopus 로고    scopus 로고
    • Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy
    • Bennett, J., Tanabe, T., Sun, D., Zeng, Y., Kjeldbye, H., Gouras, P. and Maguire, A. M. (1996). Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nat. Med. 2, 649-654.
    • (1996) Nat. Med. , vol.2 , pp. 649-654
    • Bennett, J.1    Tanabe, T.2    Sun, D.3    Zeng, Y.4    Kjeldbye, H.5    Gouras, P.6    Maguire, A.M.7
  • 19
  • 26
    • 83055178312 scopus 로고    scopus 로고
    • Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes
    • Brooks, M. J., Rajasimha, H. K., Roger, J. E. and Swaroop, A. (2011). Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes. Mol. Vis. 17, 3034-3054.
    • (2011) Mol. Vis. , vol.17 , pp. 3034-3054
    • Brooks, M.J.1    Rajasimha, H.K.2    Roger, J.E.3    Swaroop, A.4
  • 27
    • 76449096558 scopus 로고    scopus 로고
    • Blimp1 controls photoreceptor versus bipolar cell fate choice during retinal development
    • Brzezinski, J. A., 4th, Lamba, D. A. and Reh, T. A. (2010). Blimp1 controls photoreceptor versus bipolar cell fate choice during retinal development. Development 137, 619-629.
    • (2010) Development , vol.137 , pp. 619-629
    • Brzezinski 4th, J.A.1    Lamba, D.A.2    Reh, T.A.3
  • 30
  • 31
    • 0015291738 scopus 로고
    • The postnatal development of the retina in the normal and rodless CBA mouse: A light and electron microscopic study
    • Caley, D. W., Johnson, C. and Liebelt, R. A. (1972). The postnatal development of the retina in the normal and rodless CBA mouse: a light and electron microscopic study. Am. J. Anat. 133, 179-212.
    • (1972) Am. J. Anat. , vol.133 , pp. 179-212
    • Caley, D.W.1    Johnson, C.2    Liebelt, R.A.3
  • 33
    • 79958843614 scopus 로고    scopus 로고
    • Sustained benefits from ranibizumab for macular edema following central retinal vein occlusion: Twelve-month outcomes of a phase III study
    • Campochiaro, P. A., Brown, D. M., Awh, C. C., Lee, S. Y., Gray, S., Saroj, N., Murahashi, W. Y. and Rubio, R. G. (2011). Sustained benefits from ranibizumab for macular edema following central retinal vein occlusion: twelve-month outcomes of a phase III study. Ophthalmology 118, 2041-2049.
    • (2011) Ophthalmology , vol.118 , pp. 2041-2049
    • Campochiaro, P.A.1    Brown, D.M.2    Awh, C.C.3    Lee, S.Y.4    Gray, S.5    Saroj, N.6    Murahashi, W.Y.7    Rubio, R.G.8
  • 34
    • 79960832400 scopus 로고    scopus 로고
    • Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy
    • Carvalho, L. S., Xu, J., Pearson, R. A., Smith, A. J., Bainbridge, J. W., Morris, L. M., Fliesler, S. J., Ding, X. Q. and Ali, R. R. (2011). Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Hum. Mol. Genet. 20, 3161-3175.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 3161-3175
    • Carvalho, L.S.1    Xu, J.2    Pearson, R.A.3    Smith, A.J.4    Bainbridge, J.W.5    Morris, L.M.6    Fliesler, S.J.7    Ding, X.Q.8    Ali, R.R.9
  • 35
    • 84875012088 scopus 로고    scopus 로고
    • Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice
    • Chamling, X., Seo, S., Bugge, K., Searby, C., Guo, D. F., Drack, A. V., Rahmouni, K. and Sheffield, V. C. (2013). Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. PLoS ONE 8, e59101.
    • (2013) PLoS ONE , vol.8 , pp. e59101
    • Chamling, X.1    Seo, S.2    Bugge, K.3    Searby, C.4    Guo, D.F.5    Drack, A.V.6    Rahmouni, K.7    Sheffield, V.C.8
  • 39
    • 33744757686 scopus 로고    scopus 로고
    • In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
    • Chang, B., Khanna, H., Hawes, N., Jimeno, D., He, S., Lillo, C., Parapuram, S. K., Cheng, H., Scott, A., Hurd, R. E. et al. (2006b). In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum. Mol. Genet. 15, 1847-1857.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 1847-1857
    • Chang, B.1    Khanna, H.2    Hawes, N.3    Jimeno, D.4    He, S.5    Lillo, C.6    Parapuram, S.K.7    Cheng, H.8    Scott, A.9    Hurd, R.E.10
  • 40
    • 0030781996 scopus 로고    scopus 로고
    • Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes
    • Chen, S., Wang, Q. L., Nie, Z., Sun, H., Lennon, G., Copeland, N. G., Gilbert, D. J., Jenkins, N. A. and Zack, D. J. (1997). Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron 19, 1017-1030.
    • (1997) Neuron , vol.19 , pp. 1017-1030
    • Chen, S.1    Wang, Q.L.2    Nie, Z.3    Sun, H.4    Lennon, G.5    Copeland, N.G.6    Gilbert, D.J.7    Jenkins, N.A.8    Zack, D.J.9
  • 44
    • 33747884762 scopus 로고    scopus 로고
    • In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development
    • Cheng, H., Aleman, T. S., Cideciyan, A. V., Khanna, R., Jacobson, S. G. and Swaroop, A. (2006). In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Hum. Mol. Genet. 15, 2588-2602.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 2588-2602
    • Cheng, H.1    Aleman, T.S.2    Cideciyan, A.V.3    Khanna, R.4    Jacobson, S.G.5    Swaroop, A.6
  • 45
    • 80053955328 scopus 로고    scopus 로고
    • Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors
    • Cheng, H., Khan, N. W., Roger, J. E. and Swaroop, A. (2011). Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors. Hum. Mol. Genet. 20, 4102-4115.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 4102-4115
    • Cheng, H.1    Khan, N.W.2    Roger, J.E.3    Swaroop, A.4
  • 47
    • 77954620055 scopus 로고    scopus 로고
    • Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
    • Cideciyan, A. V. (2010). Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog. Retin. Eye Res. 29, 398-427.
    • (2010) Prog. Retin. Eye Res. , vol.29 , pp. 398-427
    • Cideciyan, A.V.1
  • 48
    • 0031892644 scopus 로고    scopus 로고
    • Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man
    • Cideciyan, A. V., Zhao, X., Nielsen, L., Khani, S. C., Jacobson, S. G. and Palczewski, K. (1998). Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. Proc. Natl. Acad. Sci. USA 95, 328-333.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 328-333
    • Cideciyan, A.V.1    Zhao, X.2    Nielsen, L.3    Khani, S.C.4    Jacobson, S.G.5    Palczewski, K.6
  • 49
    • 35648970061 scopus 로고    scopus 로고
    • Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: Implications for therapy of Leber congenital amaurosis
    • Cideciyan, A. V., Aleman, T. S., Jacobson, S. G., Khanna, H., Sumaroka, A., Aguirre, G. K., Schwartz, S. B., Windsor, E. A., He, S., Chang, B. et al. (2007). Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum. Mutat. 28, 1074-1083.
    • (2007) Hum. Mutat. , vol.28 , pp. 1074-1083
    • Cideciyan, A.V.1    Aleman, T.S.2    Jacobson, S.G.3    Khanna, H.4    Sumaroka, A.5    Aguirre, G.K.6    Schwartz, S.B.7    Windsor, E.A.8    He, S.9    Chang, B.10
  • 51
    • 79952578905 scopus 로고    scopus 로고
    • Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: Generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
    • Cideciyan, A. V., Rachel, R. A., Aleman, T. S., Swider, M., Schwartz, S. B., Sumaroka, A., Roman, A. J., Stone, E. M., Jacobson, S. G. and Swaroop, A. (2011). Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum. Mol. Genet. 20, 1411-1423.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1411-1423
    • Cideciyan, A.V.1    Rachel, R.A.2    Aleman, T.S.3    Swider, M.4    Schwartz, S.B.5    Sumaroka, A.6    Roman, A.J.7    Stone, E.M.8    Jacobson, S.G.9    Swaroop, A.10
  • 53
    • 0026078839 scopus 로고
    • Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse
    • Connell, G., Bascom, R., Molday, L., Reid, D., McInnes, R. R. and Molday, R. S. (1991). Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc. Natl. Acad. Sci. USA 88, 723-726.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 723-726
    • Connell, G.1    Bascom, R.2    Molday, L.3    Reid, D.4    McInnes, R.R.5    Molday, R.S.6
  • 56
    • 78149296423 scopus 로고    scopus 로고
    • CEP290, a gene with many faces: Mutation overview and presentation of CEP290base
    • Coppieters, F., Lefever, S., Leroy, B. P. and De Baere, E. (2010). CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum. Mutat. 31, 1097-1108.
    • (2010) Hum. Mutat. , vol.31 , pp. 1097-1108
    • Coppieters, F.1    Lefever, S.2    Leroy, B.P.3    De Baere, E.4
  • 58
    • 0036130880 scopus 로고    scopus 로고
    • Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa
    • DeAngelis, M. M., Grimsby, J. L., Sandberg, M. A., Berson, E. L. and Dryja, T. P. (2002). Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. Arch. Ophthalmol. 120, 369-375.
    • (2002) Arch. Ophthalmol. , vol.120 , pp. 369-375
    • DeAngelis, M.M.1    Grimsby, J.L.2    Sandberg, M.A.3    Berson, E.L.4    Dryja, T.P.5
  • 59
    • 84857040855 scopus 로고    scopus 로고
    • Dextran-protamine-solid lipid nanoparticles as a non-viral vector for gene therapy: In vitro characterization and in vivo transfection after intravenous administration to mice
    • Delgado, D., Gascón, A. R., Del Pozo-Rodŕguez, A., Echevarŕa, E., Ruiz de Garibay, A. P., Rodŕguez, J. M. and Solińs, M. A. (2012). Dextran-protamine-solid lipid nanoparticles as a non-viral vector for gene therapy: in vitro characterization and in vivo transfection after intravenous administration to mice. Int. J. Pharm. 425, 35-43.
    • (2012) Int. J. Pharm. , vol.425 , pp. 35-43
    • Delgado, D.1    Gascón, A.R.2    Del Pozo-Rodŕguez, A.3    Echevarŕa, E.4    Ruiz De Garibay, A.P.5    Rodŕguez, J.M.6    Solińs, M.A.7
  • 62
    • 0031426863 scopus 로고    scopus 로고
    • Rab proteins and post-Golgi trafficking of rhodopsin in photoreceptor cells
    • Deretic, D. (1997). Rab proteins and post-Golgi trafficking of rhodopsin in photoreceptor cells. Electrophoresis 18, 2537-2541.
    • (1997) Electrophoresis , vol.18 , pp. 2537-2541
    • Deretic, D.1
  • 63
    • 0030022944 scopus 로고    scopus 로고
    • Cytoplasmic domain of rhodopsin is essential for post-Golgi vesicle formation in a retinal cell-free system
    • Deretic, D., Puleo-Scheppke, B. and Trippe, C. (1996). Cytoplasmic domain of rhodopsin is essential for post-Golgi vesicle formation in a retinal cell-free system. J. Biol. Chem. 271, 2279-2286.
    • (1996) J. Biol. Chem. , vol.271 , pp. 2279-2286
    • Deretic, D.1    Puleo-Scheppke, B.2    Trippe, C.3
  • 64
    • 0027248024 scopus 로고
    • Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
    • Dryja, T. P., Berson, E. L., Rao, V. R. and Oprian, D. D. (1993). Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat. Genet. 4, 280-283.
    • (1993) Nat. Genet. , vol.4 , pp. 280-283
    • Dryja, T.P.1    Berson, E.L.2    Rao, V.R.3    Oprian, D.D.4
  • 65
    • 0028820045 scopus 로고
    • Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
    • Dryja, T. P., Finn, J. T., Peng, Y. W., McGee, T. L., Berson, E. L. and Yau, K. W. (1995). Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 92, 10177-10181.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 10177-10181
    • Dryja, T.P.1    Finn, J.T.2    Peng, Y.W.3    McGee, T.L.4    Berson, E.L.5    Yau, K.W.6
  • 66
    • 0029902034 scopus 로고    scopus 로고
    • Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness
    • Dryja, T. P., Hahn, L. B., Reboul, T. and Arnaud, B. (1996). Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat. Genet. 13, 358-360.
    • (1996) Nat. Genet. , vol.13 , pp. 358-360
    • Dryja, T.P.1    Hahn, L.B.2    Reboul, T.3    Arnaud, B.4
  • 67
    • 0030931136 scopus 로고    scopus 로고
    • Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa
    • Dryja, T. P., Hahn, L. B., Kajiwara, K. and Berson, E. L. (1997). Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 38, 1972-1982.
    • (1997) Invest. Ophthalmol. Vis. Sci. , vol.38 , pp. 1972-1982
    • Dryja, T.P.1    Hahn, L.B.2    Kajiwara, K.3    Berson, E.L.4
  • 68
    • 0033056620 scopus 로고    scopus 로고
    • Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa
    • Dryja, T. P., Rucinski, D. E., Chen, S. H. and Berson, E. L. (1999). Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 40, 1859-1865.
    • (1999) Invest. Ophthalmol. Vis. Sci. , vol.40 , pp. 1859-1865
    • Dryja, T.P.1    Rucinski, D.E.2    Chen, S.H.3    Berson, E.L.4
  • 70
    • 77955575605 scopus 로고    scopus 로고
    • Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase
    • Dvir, L., Srour, G., Abu-Ras, R., Miller, B., Shalev, S. A. and Ben-Yosef, T. (2010). Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am. J. Hum. Genet. 87, 258-264.
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 258-264
    • Dvir, L.1    Srour, G.2    Abu-Ras, R.3    Miller, B.4    Shalev, S.A.5    Ben-Yosef, T.6
  • 74
    • 0017081995 scopus 로고
    • Enzymic basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina
    • Farber, D. B. and Lolley, R. N. (1976). Enzymic basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina. J. Cyclic Nucleotide Res. 2, 139-148.
    • (1976) J. Cyclic Nucleotide Res. , vol.2 , pp. 139-148
    • Farber, D.B.1    Lolley, R.N.2
  • 75
    • 4344570624 scopus 로고    scopus 로고
    • Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma
    • Farber, D. B. and Tsang, S. H. (2003). Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma. Front. Biosci. 8, s666-s675.
    • (2003) Front. Biosci. , vol.8 , pp. s666-s675
    • Farber, D.B.1    Tsang, S.H.2
  • 78
  • 80
    • 0030725687 scopus 로고    scopus 로고
    • Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation
    • Furukawa, T., Morrow, E. M. and Cepko, C. L. (1997). Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 91, 531-541.
    • (1997) Cell , vol.91 , pp. 531-541
    • Furukawa, T.1    Morrow, E.M.2    Cepko, C.L.3
  • 81
    • 0032749223 scopus 로고    scopus 로고
    • Retinopathy and attenuated circadian entrainment in Crx-deficient mice
    • Furukawa, T., Morrow, E. M., Li, T., Davis, F. C. and Cepko, C. L. (1999). Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nat. Genet. 23, 466-470.
    • (1999) Nat. Genet. , vol.23 , pp. 466-470
    • Furukawa, T.1    Morrow, E.M.2    Li, T.3    Davis, F.C.4    Cepko, C.L.5
  • 82
    • 0028128535 scopus 로고
    • Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
    • Gal, A., Orth, U., Baehr, W., Schwinger, E. and Rosenberg, T. (1994). Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat. Genet. 7, 64-68.
    • (1994) Nat. Genet. , vol.7 , pp. 64-68
    • Gal, A.1    Orth, U.2    Baehr, W.3    Schwinger, E.4    Rosenberg, T.5
  • 83
    • 0033757463 scopus 로고    scopus 로고
    • Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
    • Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., Jacobson, S. G., Apfelstedt-Sylla, E. and Vollrath, D. (2000). Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat. Genet. 26, 270-271.
    • (2000) Nat. Genet. , vol.26 , pp. 270-271
    • Gal, A.1    Li, Y.2    Thompson, D.A.3    Weir, J.4    Orth, U.5    Jacobson, S.G.6    Apfelstedt-Sylla, E.7    Vollrath, D.8
  • 84
    • 33845592141 scopus 로고    scopus 로고
    • Retinal organization in the retinal degeneration 10 (rd10) mutant mouse: A morphological and ERG study
    • Gargini, C., Terzibasi, E., Mazzoni, F. and Strettoi, E. (2007). Retinal organization in the retinal degeneration 10 (rd10) mutant mouse: a morphological and ERG study. J. Comp. Neurol. 500, 222-238.
    • (2007) J. Comp. Neurol. , vol.500 , pp. 222-238
    • Gargini, C.1    Terzibasi, E.2    Mazzoni, F.3    Strettoi, E.4
  • 88
    • 79960877703 scopus 로고    scopus 로고
    • Adult donor rod photoreceptors integrate into the mature mouse retina
    • Gust, J. and Reh, T. A. (2011). Adult donor rod photoreceptors integrate into the mature mouse retina. Invest. Ophthalmol. Vis. Sci. 52, 5266-5272.
    • (2011) Invest. Ophthalmol. Vis. Sci. , vol.52 , pp. 5266-5272
    • Gust, J.1    Reh, T.A.2
  • 89
    • 16544392171 scopus 로고    scopus 로고
    • Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function
    • Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D. E., Maeda, A., Lee, A., Rieke, F. and Palczewski, K. (2004). Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. Nat. Neurosci. 7, 1079-1087.
    • (2004) Nat. Neurosci. , vol.7 , pp. 1079-1087
    • Haeseleer, F.1    Imanishi, Y.2    Maeda, T.3    Possin, D.E.4    Maeda, A.5    Lee, A.6    Rieke, F.7    Palczewski, K.8
  • 90
    • 0032759729 scopus 로고    scopus 로고
    • Retinal degeneration in tulp1-/- mice: Vesicular accumulation in the interphotoreceptor matrix
    • Hagstrom, S. A., Duyao, M., North, M. A. and Li, T. (1999). Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix. Invest. Ophthalmol. Vis. Sci. 40, 2795-2802.
    • (1999) Invest. Ophthalmol. Vis. Sci. , vol.40 , pp. 2795-2802
    • Hagstrom, S.A.1    Duyao, M.2    North, M.A.3    Li, T.4
  • 91
    • 0031942582 scopus 로고    scopus 로고
    • Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa
    • Hagstrom, S. A., North, M. A., Nishina, P. L., Berson, E. L. and Dryja, T. P. (1998). Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat. Genet. 18, 174-176.
    • (1998) Nat. Genet. , vol.18 , pp. 174-176
    • Hagstrom, S.A.1    North, M.A.2    Nishina, P.L.3    Berson, E.L.4    Dryja, T.P.5
  • 93
    • 84860846929 scopus 로고    scopus 로고
    • Long-term survival and differentiation of retinal neurons derived from human embryonic stem cell lines in un-immunosuppressed mouse retina
    • Hambright, D., Park, K. Y., Brooks, M., McKay, R., Swaroop, A. and Nasonkin, I. O. (2012). Long-term survival and differentiation of retinal neurons derived from human embryonic stem cell lines in un-immunosuppressed mouse retina. Mol. Vis. 18, 920-936.
    • (2012) Mol. Vis. , vol.18 , pp. 920-936
    • Hambright, D.1    Park, K.Y.2    Brooks, M.3    McKay, R.4    Swaroop, A.5    Nasonkin, I.O.6
  • 94
    • 11144356431 scopus 로고    scopus 로고
    • Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
    • Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T. et al. (2004). Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum. Mutat. 23, 306-317.
    • (2004) Hum. Mutat. , vol.23 , pp. 306-317
    • Hanein, S.1    Perrault, I.2    Gerber, S.3    Tanguy, G.4    Barbet, F.5    Ducroq, D.6    Calvas, P.7    Dollfus, H.8    Hamel, C.9    Lopponen, T.10
  • 96
  • 98
    • 0034724168 scopus 로고    scopus 로고
    • A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
    • Hong, D. H., Pawlyk, B. S., Shang, J., Sandberg, M. A., Berson, E. L. and Li, T. (2000). A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc. Natl. Acad. Sci. USA 97, 3649-3654.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 3649-3654
    • Hong, D.H.1    Pawlyk, B.S.2    Shang, J.3    Sandberg, M.A.4    Berson, E.L.5    Li, T.6
  • 101
    • 84878826576 scopus 로고    scopus 로고
    • Loss of Otx2 in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration
    • Housset, M., Samuel, A., Ettaiche, M., Bemelmans, A., Béby, F., Billon, N. and Lamonerie, T. (2013). Loss of Otx2 in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration. J. Neurosci. 33, 9890-9904.
    • (2013) J. Neurosci. , vol.33 , pp. 9890-9904
    • Housset, M.1    Samuel, A.2    Ettaiche, M.3    Bemelmans, A.4    Béby, F.5    Billon, N.6    Lamonerie, T.7
  • 103
    • 84878934289 scopus 로고    scopus 로고
    • Exome sequencing of 47 chinese families with cone-rod dystrophy: Mutations in 25 known causative genes
    • Huang, L., Zhang, Q., Li, S., Guan, L., Xiao, X., Zhang, J., Jia, X., Sun, W., Zhu, Z., Gao, Y. et al. (2013). Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS ONE 8, e65546.
    • (2013) PLoS ONE , vol.8 , pp. e65546
    • Huang, L.1    Zhang, Q.2    Li, S.3    Guan, L.4    Xiao, X.5    Zhang, J.6    Jia, X.7    Sun, W.8    Zhu, Z.9    Gao, Y.10
  • 110
    • 70350465108 scopus 로고    scopus 로고
    • Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development
    • Jia, L., Oh, E. C., Ng, L., Srinivas, M., Brooks, M., Swaroop, A. and Forrest, D. (2009). Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development. Proc. Natl. Acad. Sci. USA 106, 17534-17539.
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 17534-17539
    • Jia, L.1    Oh, E.C.2    Ng, L.3    Srinivas, M.4    Brooks, M.5    Swaroop, A.6    Forrest, D.7
  • 111
    • 84894989799 scopus 로고    scopus 로고
    • VEGF-binding aptides and the inhibition of choroidal and retinal neovascularization
    • Jo, D. H., Kim, S., Kim, D., Kim, J. H., Jon, S. and Kim, J. H. (2014). VEGF-binding aptides and the inhibition of choroidal and retinal neovascularization. Biomaterials 35, 3052-3059.
    • (2014) Biomaterials , vol.35 , pp. 3052-3059
    • Jo, D.H.1    Kim, S.2    Kim, D.3    Kim, J.H.4    Jon, S.5    Kim, J.H.6
  • 112
    • 84877661915 scopus 로고    scopus 로고
    • A naturally occurring mouse model of achromatopsia: Characterization of the mutation in cone transducin and subsequent retinal phenotype
    • Jobling, A. I., Vessey, K. A., Waugh, M., Mills, S. A. and Fletcher, E. L. (2013). A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. Invest. Ophthalmol. Vis. Sci. 54, 3350-3359.
    • (2013) Invest. Ophthalmol. Vis. Sci. , vol.54 , pp. 3350-3359
    • Jobling, A.I.1    Vessey, K.A.2    Waugh, M.3    Mills, S.A.4    Fletcher, E.L.5
  • 113
    • 0037343421 scopus 로고    scopus 로고
    • Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
    • Johnson, S., Halford, S., Morris, A. G., Patel, R. J., Wilkie, S. E., Hardcastle, A. J., Moore, A. T., Zhang, K. and Hunt, D. M. (2003). Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). Genomics 81, 304-314.
    • (2003) Genomics , vol.81 , pp. 304-314
    • Johnson, S.1    Halford, S.2    Morris, A.G.3    Patel, R.J.4    Wilkie, S.E.5    Hardcastle, A.J.6    Moore, A.T.7    Zhang, K.8    Hunt, D.M.9
  • 114
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
    • Kajiwara, K., Berson, E. L. and Dryja, T. P. (1994). Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264, 1604-1608.
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 115
    • 34248334512 scopus 로고    scopus 로고
    • Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity
    • Kanda, A., Friedman, J. S., Nishiguchi, K. M. and Swaroop, A. (2007). Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. Hum. Mutat. 28, 589-598.
    • (2007) Hum. Mutat. , vol.28 , pp. 589-598
    • Kanda, A.1    Friedman, J.S.2    Nishiguchi, K.M.3    Swaroop, A.4
  • 118
    • 0036301043 scopus 로고    scopus 로고
    • Cyclic nucleotide-gated ion channels
    • Kaupp, U. B. and Seifert, R. (2002). Cyclic nucleotide-gated ion channels. Physiol. Rev. 82, 769-824.
    • (2002) Physiol. Rev. , vol.82 , pp. 769-824
    • Kaupp, U.B.1    Seifert, R.2
  • 119
    • 0034940212 scopus 로고    scopus 로고
    • Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa
    • Kedzierski, W., Nusinowitz, S., Birch, D., Clarke, G., McInnes, R. R., Bok, D. and Travis, G. H. (2001). Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 98, 7718-7723.
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 7718-7723
    • Kedzierski, W.1    Nusinowitz, S.2    Birch, D.3    Clarke, G.4    McInnes, R.R.5    Bok, D.6    Travis, G.H.7
  • 120
    • 0000087516 scopus 로고
    • The inheritance of a retinal abnormality in white mice
    • Keeler, C. E. (1924). The inheritance of a retinal abnormality in white mice. Proc. Natl. Acad. Sci. USA 10, 329-333.
    • (1924) Proc. Natl. Acad. Sci. USA , vol.10 , pp. 329-333
    • Keeler, C.E.1
  • 121
    • 0025944670 scopus 로고
    • Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site
    • Keen, T. J., Inglehearn, C. F., Lester, D. H., Bashir, R., Jay, M., Bird, A. C., Jay, B. and Bhattacharya, S. S. (1991). Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics 11, 199-205.
    • (1991) Genomics , vol.11 , pp. 199-205
    • Keen, T.J.1    Inglehearn, C.F.2    Lester, D.H.3    Bashir, R.4    Jay, M.5    Bird, A.C.6    Jay, B.7    Bhattacharya, S.S.8
  • 122
    • 0029842023 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration
    • Keen, T. J. and Inglehearn, C. F. (1996). Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Hum. Mutat. 8, 297-303.
    • (1996) Hum. Mutat. , vol.8 , pp. 297-303
    • Keen, T.J.1    Inglehearn, C.F.2
  • 123
    • 20244381625 scopus 로고    scopus 로고
    • The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
    • Kim, J. C., Badano, J. L., Sibold, S., Esmail, M. A., Hill, J., Hoskins, B. E., Leitch, C. C., Venner, K., Ansley, S. J., Ross, A. J. et al. (2004). The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat. Genet. 36, 462-470.
    • (2004) Nat. Genet. , vol.36 , pp. 462-470
    • Kim, J.C.1    Badano, J.L.2    Sibold, S.3    Esmail, M.A.4    Hill, J.5    Hoskins, B.E.6    Leitch, C.C.7    Venner, K.8    Ansley, S.J.9    Ross, A.J.10
  • 124
    • 77950647146 scopus 로고    scopus 로고
    • The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells
    • Kirschman, L. T., Kolandaivelu, S., Frederick, J. M., Dang, L., Goldberg, A. F., Baehr, W. and Ramamurthy, V. (2010). The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells. Hum. Mol. Genet. 19, 1076-1087.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 1076-1087
    • Kirschman, L.T.1    Kolandaivelu, S.2    Frederick, J.M.3    Dang, L.4    Goldberg, A.F.5    Baehr, W.6    Ramamurthy, V.7
  • 125
    • 6344287506 scopus 로고    scopus 로고
    • Derivation and comparative assessment of retinal pigment epithelium from human embryonic stem cells using transcriptomics
    • Klimanskaya, I., Hipp, J., Rezai, K. A., West, M., Atala, A. and Lanza, R. (2004). Derivation and comparative assessment of retinal pigment epithelium from human embryonic stem cells using transcriptomics. Cloning Stem Cells 6, 217-245.
    • (2004) Cloning Stem Cells , vol.6 , pp. 217-245
    • Klimanskaya, I.1    Hipp, J.2    Rezai, K.A.3    West, M.4    Atala, A.5    Lanza, R.6
  • 127
    • 84908353007 scopus 로고    scopus 로고
    • Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: An open-label phase 1b trial
    • Koenekoop, R. K., Sui, R., Sallum, J., van den Born, L. I., Ajlan, R., Khan, A., den Hollander, A. I., Cremers, F. P., Mendola, J. D., Bittner, A. K. et al. (2014). Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial. Lancet 384, 1513-1520.
    • (2014) Lancet , vol.384 , pp. 1513-1520
    • Koenekoop, R.K.1    Sui, R.2    Sallum, J.3    Van Den Born, L.I.4    Ajlan, R.5    Khan, A.6    Den Hollander, A.I.7    Cremers, F.P.8    Mendola, J.D.9    Bittner, A.K.10
  • 128
  • 129
    • 0031803762 scopus 로고    scopus 로고
    • Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
    • Kohl, S., Marx, T., Giddings, I., Jögle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T. and Wissinger, B. (1998). Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat. Genet. 19, 257-259.
    • (1998) Nat. Genet. , vol.19 , pp. 257-259
    • Kohl, S.1    Marx, T.2    Giddings, I.3    Jögle, H.4    Jacobson, S.G.5    Apfelstedt-Sylla, E.6    Zrenner, E.7    Sharpe, L.T.8    Wissinger, B.9
  • 132
    • 84887206739 scopus 로고    scopus 로고
    • Persistence of non-viral vector mediated RPE65 expression: Case for viability as a gene transfer therapy for RPE-based diseases
    • Koirala, A., Conley, S. M., Makkia, R., Liu, Z., Cooper, M. J., Sparrow, J. R. and Naash, M. I. (2013). Persistence of non-viral vector mediated RPE65 expression: case for viability as a gene transfer therapy for RPE-based diseases. J. Control. Release 172, 745-752.
    • (2013) J. Control. Release , vol.172 , pp. 745-752
    • Koirala, A.1    Conley, S.M.2    Makkia, R.3    Liu, Z.4    Cooper, M.J.5    Sparrow, J.R.6    Naash, M.I.7
  • 133
    • 71449097363 scopus 로고    scopus 로고
    • AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly
    • Kolandaivelu, S., Huang, J., Hurley, J. B. and Ramamurthy, V. (2009). AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly. J. Biol. Chem. 284, 30853-30861.
    • (2009) J. Biol. Chem. , vol.284 , pp. 30853-30861
    • Kolandaivelu, S.1    Huang, J.2    Hurley, J.B.3    Ramamurthy, V.4
  • 137
    • 81255169334 scopus 로고    scopus 로고
    • Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis
    • Ku, C. A., Chiodo, V. A., Boye, S. L., Goldberg, A. F., Li, T., Hauswirth, W. W. and Ramamurthy, V. (2011). Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis. Hum. Mol. Genet. 20, 4569-4581.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 4569-4581
    • Ku, C.A.1    Chiodo, V.A.2    Boye, S.L.3    Goldberg, A.F.4    Li, T.5    Hauswirth, W.W.6    Ramamurthy, V.7
  • 138
    • 0029831672 scopus 로고    scopus 로고
    • Subfoveal fibrovascular membranes in age-related macular degeneration express vascular endothelial growth factor
    • Kvanta, A., Algvere, P. V., Berglin, L. and Seregard, S. (1996). Subfoveal fibrovascular membranes in age-related macular degeneration express vascular endothelial growth factor. Invest. Ophthalmol. Vis. Sci. 37, 1929-1934.
    • (1996) Invest. Ophthalmol. Vis. Sci. , vol.37 , pp. 1929-1934
    • Kvanta, A.1    Algvere, P.V.2    Berglin, L.3    Seregard, S.4
  • 139
    • 84898603855 scopus 로고    scopus 로고
    • Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy: Preparation for gene therapy clinical trial
    • Lam, B. L., Feuer, W. J., Schiffman, J. C., Porciatti, V., Vandenbroucke, R., Rosa, P. R., Gregori, G. and Guy, J. (2014). Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial. JAMA Ophthalmol. 132, 428-436.
    • (2014) JAMA Ophthalmol. , vol.132 , pp. 428-436
    • Lam, B.L.1    Feuer, W.J.2    Schiffman, J.C.3    Porciatti, V.4    Vandenbroucke, R.5    Rosa, P.R.6    Gregori, G.7    Guy, J.8
  • 140
    • 84883254968 scopus 로고    scopus 로고
    • Evolution of phototransduction, vertebrate photoreceptors and retina
    • Lamb, T. D. (2013). Evolution of phototransduction, vertebrate photoreceptors and retina. Prog. Retin. Eye Res. 36, 52-119.
    • (2013) Prog. Retin. Eye Res. , vol.36 , pp. 52-119
    • Lamb, T.D.1
  • 141
    • 36348999115 scopus 로고    scopus 로고
    • Evolution of the vertebrate eye: Opsins, photoreceptors, retina and eye cup
    • Lamb, T. D., Collin, S. P. and Pugh, E. N., Jr (2007). Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nat. Rev. Neurosci. 8, 960-976.
    • (2007) Nat. Rev. Neurosci. , vol.8 , pp. 960-976
    • Lamb, T.D.1    Collin, S.P.2    Pugh, E.N.3
  • 142
    • 0025936841 scopus 로고
    • Leber's hereditary optic neuropathy and complex I deficiency in muscle
    • Larsson, N. G., Andersen, O., Holme, E., Oldfors, A. and Wahlström, J. (1991). Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann. Neurol. 30, 701-708.
    • (1991) Ann. Neurol. , vol.30 , pp. 701-708
    • Larsson, N.G.1    Andersen, O.2    Holme, E.3    Oldfors, A.4    Wahlström, J.5
  • 146
    • 0034327412 scopus 로고    scopus 로고
    • The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: Identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium
    • Lerman, M. I. and Minna, J. D. (2000). The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium. Cancer Res. 60, 6116-6133.
    • (2000) Cancer Res. , vol.60 , pp. 6116-6133
    • Lerman, M.I.1    Minna, J.D.2
  • 147
    • 0028298405 scopus 로고
    • Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: Retinal histopathology and immunocytochemistry
    • Li, Z. Y., Jacobson, S. G. and Milam, A. H. (1994). Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry. Exp. Eye Res. 58, 397-408.
    • (1994) Exp. Eye Res. , vol.58 , pp. 397-408
    • Li, Z.Y.1    Jacobson, S.G.2    Milam, A.H.3
  • 148
    • 0033178341 scopus 로고    scopus 로고
    • Myosin VIIa participates in opsin transport through the photoreceptor cilium
    • Liu, X., Udovichenko, I. P., Brown, S. D., Steel, K. P. and Williams, D. S. (1999). Myosin VIIa participates in opsin transport through the photoreceptor cilium. J. Neurosci. 19, 6267-6274.
    • (1999) J. Neurosci. , vol.19 , pp. 6267-6274
    • Liu, X.1    Udovichenko, I.P.2    Brown, S.D.3    Steel, K.P.4    Williams, D.S.5
  • 149
    • 34248353947 scopus 로고    scopus 로고
    • Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
    • Liu, X., Bulgakov, O. V., Darrow, K. N., Pawlyk, B., Adamian, M., Liberman, M. C. and Li, T. (2007). Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc. Natl. Acad. Sci. USA 104, 4413-4418.
    • (2007) Proc. Natl. Acad. Sci. USA , vol.104 , pp. 4413-4418
    • Liu, X.1    Bulgakov, O.V.2    Darrow, K.N.3    Pawlyk, B.4    Adamian, M.5    Liberman, M.C.6    Li, T.7
  • 151
    • 70349873363 scopus 로고    scopus 로고
    • Long-term safety and function of RPE from human embryonic stem cells in preclinical models of macular degeneration
    • Lu, B., Malcuit, C., Wang, S., Girman, S., Francis, P., Lemieux, L., Lanza, R. and Lund, R. (2009). Long-term safety and function of RPE from human embryonic stem cells in preclinical models of macular degeneration. Stem Cells 27, 2126-2135.
    • (2009) Stem Cells , vol.27 , pp. 2126-2135
    • Lu, B.1    Malcuit, C.2    Wang, S.3    Girman, S.4    Francis, P.5    Lemieux, L.6    Lanza, R.7    Lund, R.8
  • 152
    • 77955843760 scopus 로고    scopus 로고
    • Human adult bone marrow-derived somatic cells rescue vision in a rodent model of retinal degeneration
    • Lu, B., Wang, S., Girman, S., McGill, T., Ragaglia, V. and Lund, R. (2010). Human adult bone marrow-derived somatic cells rescue vision in a rodent model of retinal degeneration. Exp. Eye Res. 91, 449-455.
    • (2010) Exp. Eye Res. , vol.91 , pp. 449-455
    • Lu, B.1    Wang, S.2    Girman, S.3    McGill, T.4    Ragaglia, V.5    Lund, R.6
  • 154
    • 84895799338 scopus 로고    scopus 로고
    • Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration
    • Ma, H., Thapa, A., Morris, L., Redmond, T. M., Baehr, W. and Ding, X. Q. (2014). Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration. Proc. Natl. Acad. Sci. USA 111, 3602-3607.
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111 , pp. 3602-3607
    • Ma, H.1    Thapa, A.2    Morris, L.3    Redmond, T.M.4    Baehr, W.5    Ding, X.Q.6
  • 158
  • 159
    • 0347089037 scopus 로고    scopus 로고
    • Electroporation and RNA interference in the rodent retina in vivo and in vitro
    • Matsuda, T. and Cepko, C. L. (2004). Electroporation and RNA interference in the rodent retina in vivo and in vitro. Proc. Natl. Acad. Sci. USA 101, 16-22.
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 16-22
    • Matsuda, T.1    Cepko, C.L.2
  • 160
    • 0031964983 scopus 로고    scopus 로고
    • Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination
    • Maw, M., Kumaramanickavel, G., Kar, B., John, S., Bridges, R. and Denton, M. (1998). Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination. Hum. Mutat. Suppl. 1, S317-S319.
    • (1998) Hum. Mutat. , pp. S317-S319
    • Maw, M.1    Kumaramanickavel, G.2    Kar, B.3    John, S.4    Bridges, R.5    Denton, M.6
  • 162
    • 0027270053 scopus 로고
    • Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    • McLaughlin, M. E., Sandberg, M. A., Berson, E. L. and Dryja, T. P. (1993). Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat. Genet. 4, 130-134.
    • (1993) Nat. Genet. , vol.4 , pp. 130-134
    • McLaughlin, M.E.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 168
    • 0034703019 scopus 로고    scopus 로고
    • The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation
    • Mitton, K. P., Swain, P. K., Chen, S., Xu, S., Zack, D. J. and Swaroop, A. (2000). The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. J. Biol. Chem. 275, 29794-29799.
    • (2000) J. Biol. Chem. , vol.275 , pp. 29794-29799
    • Mitton, K.P.1    Swain, P.K.2    Chen, S.3    Xu, S.4    Zack, D.J.5    Swaroop, A.6
  • 169
    • 0027275667 scopus 로고
    • Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2)
    • Morris, T. A. and Fong, S. L. (1993). Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2). Genomics 17, 442-448.
    • (1993) Genomics , vol.17 , pp. 442-448
    • Morris, T.A.1    Fong, S.L.2
  • 177
    • 0029970778 scopus 로고    scopus 로고
    • Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene
    • Nakazawa, M., Naoi, N., Wada, Y., Nakazaki, S., Maruiwa, F., Sawada, A. and Tamai, M. (1996). Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. Retina 16, 405-410.
    • (1996) Retina , vol.16 , pp. 405-410
    • Nakazawa, M.1    Naoi, N.2    Wada, Y.3    Nakazaki, S.4    Maruiwa, F.5    Sawada, A.6    Tamai, M.7
  • 178
    • 0031894886 scopus 로고    scopus 로고
    • Arrestin gene mutations in autosomal recessive retinitis pigmentosa
    • Nakazawa, M., Wada, Y. and Tamai, M. (1998). Arrestin gene mutations in autosomal recessive retinitis pigmentosa. Arch. Ophthalmol. 116, 498-501.
    • (1998) Arch. Ophthalmol. , vol.116 , pp. 498-501
    • Nakazawa, M.1    Wada, Y.2    Tamai, M.3
  • 181
    • 79961231439 scopus 로고    scopus 로고
    • Two transcription factors can direct three photoreceptor outcomes from rod precursor cells in mouse retinal development
    • Ng, L., Lu, A., Swaroop, A., Sharlin, D. S., Swaroop, A. and Forrest, D. (2011). Two transcription factors can direct three photoreceptor outcomes from rod precursor cells in mouse retinal development. J. Neurosci. 31, 11118-11125.
    • (2011) J. Neurosci. , vol.31 , pp. 11118-11125
    • Ng, L.1    Lu, A.2    Swaroop, A.3    Sharlin, D.S.4    Swaroop, A.5    Forrest, D.6
  • 182
    • 48749086594 scopus 로고    scopus 로고
    • Mouse cones require an arrestin for normal inactivation of phototransduction
    • Nikonov, S. S., Brown, B. M., Davis, J. A., Zuniga, F. I., Bragin, A., Pugh, E. N., Jr and Craft, C. M. (2008). Mouse cones require an arrestin for normal inactivation of phototransduction. Neuron 59, 462-474.
    • (2008) Neuron , vol.59 , pp. 462-474
    • Nikonov, S.S.1    Brown, B.M.2    Davis, J.A.3    Zuniga, F.I.4    Bragin, A.5    Pugh, E.N.6    Craft, C.M.7
  • 183
    • 0344442834 scopus 로고    scopus 로고
    • Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development
    • Nishida, A., Furukawa, A., Koike, C., Tano, Y., Aizawa, S., Matsuo, I. and Furukawa, T. (2003). Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development. Nat. Neurosci. 6, 1255-1263.
    • (2003) Nat. Neurosci. , vol.6 , pp. 1255-1263
    • Nishida, A.1    Furukawa, A.2    Koike, C.3    Tano, Y.4    Aizawa, S.5    Matsuo, I.6    Furukawa, T.7
  • 184
    • 11144241785 scopus 로고    scopus 로고
    • Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function
    • Nishiguchi, K. M., Friedman, J. S., Sandberg, M. A., Swaroop, A., Berson, E. L. and Dryja, T. P. (2004a). Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc. Natl. Acad. Sci. USA 101, 17819-17824.
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 17819-17824
    • Nishiguchi, K.M.1    Friedman, J.S.2    Sandberg, M.A.3    Swaroop, A.4    Berson, E.L.5    Dryja, T.P.6
  • 189
    • 33846815401 scopus 로고    scopus 로고
    • Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL
    • Oh, E. C., Khan, N., Novelli, E., Khanna, H., Strettoi, E. and Swaroop, A. (2007). Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proc. Natl. Acad. Sci. USA 104, 1679-1684.
    • (2007) Proc. Natl. Acad. Sci. USA , vol.104 , pp. 1679-1684
    • Oh, E.C.1    Khan, N.2    Novelli, E.3    Khanna, H.4    Strettoi, E.5    Swaroop, A.6
  • 190
    • 48649108204 scopus 로고    scopus 로고
    • Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors
    • Oh, E. C., Cheng, H., Hao, H., Jia, L., Khan, N. W. and Swaroop, A. (2008). Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors. Brain Res. 1236, 16-29.
    • (2008) Brain Res. , vol.1236 , pp. 16-29
    • Oh, E.C.1    Cheng, H.2    Hao, H.3    Jia, L.4    Khan, N.W.5    Swaroop, A.6
  • 192
    • 9644268242 scopus 로고    scopus 로고
    • Rescue of retinal degeneration by intravitreally injected adult bone marrow-derived lineage-negative hematopoietic stem cells
    • Otani, A., Dorrell, M. I., Kinder, K., Moreno, S. K., Nusinowitz, S., Banin, E., Heckenlively, J. and Friedlander, M. (2004). Rescue of retinal degeneration by intravitreally injected adult bone marrow-derived lineage-negative hematopoietic stem cells. J. Clin. Invest. 114, 765-774.
    • (2004) J. Clin. Invest. , vol.114 , pp. 765-774
    • Otani, A.1    Dorrell, M.I.2    Kinder, K.3    Moreno, S.K.4    Nusinowitz, S.5    Banin, E.6    Heckenlively, J.7    Friedlander, M.8
  • 193
    • 32944473999 scopus 로고    scopus 로고
    • Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis
    • Pang, J. J., Chang, B., Kumar, A., Nusinowitz, S., Noorwez, S. M., Li, J., Rani, A., Foster, T. C., Chiodo, V. A., Doyle, T. et al. (2006). Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Mol. Ther. 13, 565-572.
    • (2006) Mol. Ther. , vol.13 , pp. 565-572
    • Pang, J.J.1    Chang, B.2    Kumar, A.3    Nusinowitz, S.4    Noorwez, S.M.5    Li, J.6    Rani, A.7    Foster, T.C.8    Chiodo, V.A.9    Doyle, T.10
  • 196
    • 67749111389 scopus 로고    scopus 로고
    • Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse
    • Park, T. K., Wu, Z., Kjellstrom, S., Zeng, Y., Bush, R. A., Sieving, P. A. and Colosi, P. (2009). Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse. Gene Ther. 16, 916-926.
    • (2009) Gene Ther. , vol.16 , pp. 916-926
    • Park, T.K.1    Wu, Z.2    Kjellstrom, S.3    Zeng, Y.4    Bush, R.A.5    Sieving, P.A.6    Colosi, P.7
  • 198
    • 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, G. H., Ahmad, O., Ahmad, F., Liu, J. and Chen, S. (2005). The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. Hum. Mol. Genet. 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
  • 199
    • 0032991252 scopus 로고    scopus 로고
    • cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog
    • Petersen-Jones, S. M., Entz, D. D. and Sargan, D. R. (1999). cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest. Ophthalmol. Vis. Sci. 40, 1637-1644.
    • (1999) Invest. Ophthalmol. Vis. Sci. , vol.40 , pp. 1637-1644
    • Petersen-Jones, S.M.1    Entz, D.D.2    Sargan, D.R.3
  • 200
    • 0026072333 scopus 로고
    • Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse
    • Pittler, S. J. and Baehr, W. (1991). Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc. Natl. Acad. Sci. USA 88, 8322-8326.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 8322-8326
    • Pittler, S.J.1    Baehr, W.2
  • 203
    • 0037337634 scopus 로고    scopus 로고
    • Optic neuropathy induced by reductions in mitochondrial superoxide dismutase
    • Qi, X., Lewin, A. S., Hauswirth, W. W. and Guy, J. (2003). Optic neuropathy induced by reductions in mitochondrial superoxide dismutase. Invest. Ophthalmol. Vis. Sci. 44, 1088-1096.
    • (2003) Invest. Ophthalmol. Vis. Sci. , vol.44 , pp. 1088-1096
    • Qi, X.1    Lewin, A.S.2    Hauswirth, W.W.3    Guy, J.4
  • 204
    • 33846905085 scopus 로고    scopus 로고
    • The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse
    • Qi, X., Sun, L., Lewin, A. S., Hauswirth, W. W. and Guy, J. (2007). The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse. Invest. Ophthalmol. Vis. Sci. 48, 1-10.
    • (2007) Invest. Ophthalmol. Vis. Sci. , vol.48 , pp. 1-10
    • Qi, X.1    Sun, L.2    Lewin, A.S.3    Hauswirth, W.W.4    Guy, J.5
  • 205
    • 84874990374 scopus 로고    scopus 로고
    • Photoreceptor sensory cilia and ciliopathies: Focus on CEP290, RPGR and their interacting proteins
    • Rachel, R. A., Li, T. and Swaroop, A. (2012a). Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia 1, 22.
    • (2012) Cilia , vol.1 , pp. 22
    • Rachel, R.A.1    Li, T.2    Swaroop, A.3
  • 207
    • 4644256599 scopus 로고    scopus 로고
    • Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase
    • Ramamurthy, V., Niemi, G. A., Reh, T. A. and Hurley, J. B. (2004). Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. Proc. Natl. Acad. Sci. USA 101, 13897-13902.
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 13897-13902
    • Ramamurthy, V.1    Niemi, G.A.2    Reh, T.A.3    Hurley, J.B.4
  • 209
    • 0028125886 scopus 로고
    • Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness
    • Rao, V. R., Cohen, G. B. and Oprian, D. D. (1994). Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature 367, 639-642.
    • (1994) Nature , vol.367 , pp. 639-642
    • Rao, V.R.1    Cohen, G.B.2    Oprian, D.D.3
  • 210
    • 84885775437 scopus 로고    scopus 로고
    • Genetic architecture of retinal and macular degenerative diseases: The promise and challenges of next-generation sequencing
    • Ratnapriya, R. and Swaroop, A. (2013). Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. Genome Med. 5, 84.
    • (2013) Genome Med. , vol.5 , pp. 84
    • Ratnapriya, R.1    Swaroop, A.2
  • 212
    • 0028945657 scopus 로고
    • Leber's hereditary optic neuropathy: The clinical relevance of different mitochondrial DNA mutations
    • Riordan-Eva, P. and Harding, A. E. (1995). Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J. Med. Genet. 32, 81-87.
    • (1995) J. Med. Genet. , vol.32 , pp. 81-87
    • Riordan-Eva, P.1    Harding, A.E.2
  • 213
    • 0035206015 scopus 로고    scopus 로고
    • Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX
    • Rivolta, C., Berson, E. L. and Dryja, T. P. (2001). Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Hum. Mutat. 18, 488-498.
    • (2001) Hum. Mutat. , vol.18 , pp. 488-498
    • Rivolta, C.1    Berson, E.L.2    Dryja, T.P.3
  • 214
    • 0037095736 scopus 로고    scopus 로고
    • Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns
    • Rivolta, C., Sharon, D., DeAngelis, M. M. and Dryja, T. P. (2002). Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum. Mol. Genet. 11, 1219-1227.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1219-1227
    • Rivolta, C.1    Sharon, D.2    DeAngelis, M.M.3    Dryja, T.P.4
  • 215
    • 0028241969 scopus 로고
    • Opsins with mutations at the site of chromophore attachment constitutively activate transducin but are not phosphorylated by rhodopsin kinase
    • Robinson, P. R., Buczyłko, J., Ohguro, H. and Palczewski, K. (1994). Opsins with mutations at the site of chromophore attachment constitutively activate transducin but are not phosphorylated by rhodopsin kinase. Proc. Natl. Acad. Sci. USA 91, 5411-5415.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 5411-5415
    • Robinson, P.R.1    Buczyłko, J.2    Ohguro, H.3    Palczewski, K.4
  • 221
    • 84864245923 scopus 로고    scopus 로고
    • Vitamin A metabolism in rod and cone visual cycles
    • Saari, J. C. (2012). Vitamin A metabolism in rod and cone visual cycles. Annu. Rev. Nutr. 32, 125-145.
    • (2012) Annu. Rev. Nutr. , vol.32 , pp. 125-145
    • Saari, J.C.1
  • 222
    • 84897390436 scopus 로고    scopus 로고
    • P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis
    • Sakami, S., Kolesnikov, A. V., Kefalov, V. J. and Palczewski, K. (2014). P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis. Hum. Mol. Genet. 23, 1723-1741.
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 1723-1741
    • Sakami, S.1    Kolesnikov, A.V.2    Kefalov, V.J.3    Palczewski, K.4
  • 223
    • 57649185427 scopus 로고    scopus 로고
    • New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene
    • Sakamoto, K., McCluskey, M., Wensel, T. G., Naggert, J. K. and Nishina, P. M. (2009). New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene. Hum. Mol. Genet. 18, 178-192.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 178-192
    • Sakamoto, K.1    McCluskey, M.2    Wensel, T.G.3    Naggert, J.K.4    Nishina, P.M.5
  • 224
    • 0032742832 scopus 로고    scopus 로고
    • A point mutation (W70A) in the rod PDE-gamma gene desensitizing and delaying murine rod photoreceptors
    • Salchow, D. J., Gouras, P., Doi, K., Goff, S. P., Schwinger, E. and Tsang, S. H. (1999). A point mutation (W70A) in the rod PDE-gamma gene desensitizing and delaying murine rod photoreceptors. Invest. Ophthalmol. Vis. Sci. 40, 3262-3267.
    • (1999) Invest. Ophthalmol. Vis. Sci. , vol.40 , pp. 3262-3267
    • Salchow, D.J.1    Gouras, P.2    Doi, K.3    Goff, S.P.4    Schwinger, E.5    Tsang, S.H.6
  • 226
    • 0015752167 scopus 로고
    • Comparative light and electron microscopic study of retinal histogenesis in normal and rd mutant mice
    • Sanyal, S. and Bal, A. K. (1973). Comparative light and electron microscopic study of retinal histogenesis in normal and rd mutant mice. Z. Anat. Entwicklungsgesch. 142, 219-238.
    • (1973) Z. Anat. Entwicklungsgesch. , vol.142 , pp. 219-238
    • Sanyal, S.1    Bal, A.K.2
  • 234
    • 84923014395 scopus 로고    scopus 로고
    • Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: Follow-up of two open-label phase 1/2 studies
    • [Epub ahead of print]
    • Schwartz, S. D, Regillo, C. D., Lam, B. L., Eliott, D., Rosenfeld, P. J., Gregori, N. Z., Hubschman, J. P., Davis, J. L., Heilwell, G., Spirn, M. et al. (2014). Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies. Lancet [Epub ahead of print] doi: 10.1016/S0140-6736(14)61376-3.
    • (2014) Lancet
    • Schwartz, S.D.1    Regillo, C.D.2    Lam, B.L.3    Eliott, D.4    Rosenfeld, P.J.5    Gregori, N.Z.6    Hubschman, J.P.7    Davis, J.L.8    Heilwell, G.9    Spirn, M.10
  • 237
    • 78650505099 scopus 로고    scopus 로고
    • CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity
    • Sharma, M., Burré, J. and Südhof, T. C. (2011). CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity. Nat. Cell Biol. 13, 30-39.
    • (2011) Nat. Cell Biol. , vol.13 , pp. 30-39
    • Sharma, M.1    Burré, J.2    Südhof, T.C.3
  • 239
    • 0242522448 scopus 로고    scopus 로고
    • RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
    • Sharon, D., Sandberg, M. A., Rabe, V. W., Stillberger, M., Dryja, T. P. and Berson, E. L. (2003). RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am. J. Hum. Genet. 73, 1131-1146.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1131-1146
    • Sharon, D.1    Sandberg, M.A.2    Rabe, V.W.3    Stillberger, M.4    Dryja, T.P.5    Berson, E.L.6
  • 240
    • 0002242647 scopus 로고
    • Retinal degeneration in the mouse: Location of the Rd locus in linkage group Xvii
    • Sidman, R. L. and Green, M. C. (1965). Retinal degeneration in the mouse: location of the Rd locus in linkage group Xvii. J. Hered. 56, 23-29.
    • (1965) J. Hered. , vol.56 , pp. 23-29
    • Sidman, R.L.1    Green, M.C.2
  • 242
    • 0035425947 scopus 로고    scopus 로고
    • Constitutive "light" adaptation in rods from G90D rhodopsin: A mechanism for human congenital nightblindness without rod cell loss
    • Sieving, P. A., Fowler, M. L., Bush, R. A., Machida, S., Calvert, P. D., Green, D. G., Makino, C. L. and McHenry, C. L. (2001). Constitutive "light" adaptation in rods from G90D rhodopsin: a mechanism for human congenital nightblindness without rod cell loss. J. Neurosci. 21, 5449-5460.
    • (2001) J. Neurosci. , vol.21 , pp. 5449-5460
    • Sieving, P.A.1    Fowler, M.L.2    Bush, R.A.3    Machida, S.4    Calvert, P.D.5    Green, D.G.6    Makino, C.L.7    McHenry, C.L.8
  • 243
    • 33644872951 scopus 로고    scopus 로고
    • Ciliary neurotrophic factor (CNTF) for human retinal degeneration: Phase I trial of CNTF delivered by encapsulated cell intraocular implants
    • Sieving, P. A., Caruso, R. C., Tao, W., Coleman, H. R., Thompson, D. J., Fullmer, K. R. and Bush, R. A. (2006). Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants. Proc. Natl. Acad. Sci. USA 103, 3896-3901.
    • (2006) Proc. Natl. Acad. Sci. USA , vol.103 , pp. 3896-3901
    • Sieving, P.A.1    Caruso, R.C.2    Tao, W.3    Coleman, H.R.4    Thompson, D.J.5    Fullmer, K.R.6    Bush, R.A.7
  • 244
    • 79955030162 scopus 로고    scopus 로고
    • Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model
    • Simons, D. L., Boye, S. L., Hauswirth, W. W. and Wu, S. M. (2011). Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model. Proc. Natl. Acad. Sci. USA 108, 6276-6281.
    • (2011) Proc. Natl. Acad. Sci. USA , vol.108 , pp. 6276-6281
    • Simons, D.L.1    Boye, S.L.2    Hauswirth, W.W.3    Wu, S.M.4
  • 249
    • 74349104948 scopus 로고    scopus 로고
    • Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations
    • Sun, X., Pawlyk, B., Xu, X., Liu, X., Bulgakov, O. V., Adamian, M., Sandberg, M. A., Khani, S. C., Tan, M. H., Smith, A. J. et al. (2010). Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. Gene Ther. 17, 117-131.
    • (2010) Gene Ther. , vol.17 , pp. 117-131
    • Sun, X.1    Pawlyk, B.2    Xu, X.3    Liu, X.4    Bulgakov, O.V.5    Adamian, M.6    Sandberg, M.A.7    Khani, S.C.8    Tan, M.H.9    Smith, A.J.10
  • 251
    • 84880176751 scopus 로고    scopus 로고
    • The golden era of ocular disease gene discovery: Race to the finish
    • Swaroop, A. and Sieving, P. A. (2013). The golden era of ocular disease gene discovery: race to the finish. Clin. Genet. 84, 99-101.
    • (2013) Clin. Genet. , vol.84 , pp. 99-101
    • Swaroop, A.1    Sieving, P.A.2
  • 253
    • 0032929074 scopus 로고    scopus 로고
    • Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function
    • Swaroop, A., Wang, Q. L., Wu, W., Cook, J., Coats, C., Xu, S., Chen, S., Zack, D. J. and Sieving, P. A. (1999). Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum. Mol. Genet. 8, 299-305.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 299-305
    • Swaroop, A.1    Wang, Q.L.2    Wu, W.3    Cook, J.4    Coats, C.5    Xu, S.6    Chen, S.7    Zack, D.J.8    Sieving, P.A.9
  • 254
    • 77954879972 scopus 로고    scopus 로고
    • Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina
    • Swaroop, A., Kim, D. and Forrest, D. (2010). Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina. Nat. Rev. Neurosci. 11, 563-576.
    • (2010) Nat. Rev. Neurosci. , vol.11 , pp. 563-576
    • Swaroop, A.1    Kim, D.2    Forrest, D.3
  • 255
    • 49049118498 scopus 로고    scopus 로고
    • Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery
    • Takada, Y., Vijayasarathy, C., Zeng, Y., Kjellstrom, S., Bush, R. A. and Sieving, P. A. (2008). Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Invest. Ophthalmol. Vis. Sci. 49, 3677-3686.
    • (2008) Invest. Ophthalmol. Vis. Sci. , vol.49 , pp. 3677-3686
    • Takada, Y.1    Vijayasarathy, C.2    Zeng, Y.3    Kjellstrom, S.4    Bush, R.A.5    Sieving, P.A.6
  • 256
    • 66149101630 scopus 로고    scopus 로고
    • Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: Effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
    • Tan, M. H., Smith, A. J., Pawlyk, B., Xu, X., Liu, X., Bainbridge, J. B., Basche, M., McIntosh, J., Tran, H. V., Nathwani, A. et al. (2009). Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. Hum. Mol. Genet. 18, 2099-2114.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 2099-2114
    • Tan, M.H.1    Smith, A.J.2    Pawlyk, B.3    Xu, X.4    Liu, X.5    Bainbridge, J.B.6    Basche, M.7    McIntosh, J.8    Tran, H.V.9    Nathwani, A.10
  • 257
    • 0034973574 scopus 로고    scopus 로고
    • Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
    • Thompson, D. A., Li, Y., McHenry, C. L., Carlson, T. J., Ding, X., Sieving, P. A., Apfelstedt-Sylla, E. and Gal, A. (2001). Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat. Genet. 28, 123-124.
    • (2001) Nat. Genet. , vol.28 , pp. 123-124
    • Thompson, D.A.1    Li, Y.2    McHenry, C.L.3    Carlson, T.J.4    Ding, X.5    Sieving, P.A.6    Apfelstedt-Sylla, E.7    Gal, A.8
  • 258
    • 84860487206 scopus 로고    scopus 로고
    • Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15
    • Thompson, D. A., Khan, N. W., Othman, M. I., Chang, B., Jia, L., Grahek, G., Wu, Z., Hiriyanna, S., Nellissery, J., Li, T. et al. (2012). Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. PLoS ONE 7, e35865.
    • (2012) PLoS ONE , vol.7 , pp. e35865
    • Thompson, D.A.1    Khan, N.W.2    Othman, M.I.3    Chang, B.4    Jia, L.5    Grahek, G.6    Wu, Z.7    Hiriyanna, S.8    Nellissery, J.9    Li, T.10
  • 259
    • 84879842921 scopus 로고    scopus 로고
    • Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo
    • Tolmachova, T., Tolmachov, O. E., Barnard, A. R., de Silva, S. R., Lipinski, D. M., Walker, N. J., Maclaren, R. E. and Seabra, M. C. (2013). Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo. J. Mol. Med. (Berl.) 91, 825-837.
    • (2013) J. Mol. Med. (Berl.) , vol.91 , pp. 825-837
    • Tolmachova, T.1    Tolmachov, O.E.2    Barnard, A.R.3    De Silva, S.R.4    Lipinski, D.M.5    Walker, N.J.6    Maclaren, R.E.7    Seabra, M.C.8
  • 260
    • 84901741997 scopus 로고    scopus 로고
    • Mechanistically distinct mouse models for CRX-associated retinopathy
    • Tran, N. M., Zhang, A., Zhang, X., Huecker, J. B., Hennig, A. K. and Chen, S. (2014). Mechanistically distinct mouse models for CRX-associated retinopathy. PLoS Genet. 10, e1004111.
    • (2014) PLoS Genet. , vol.10 , pp. e1004111
    • Tran, N.M.1    Zhang, A.2    Zhang, X.3    Huecker, J.B.4    Hennig, A.K.5    Chen, S.6
  • 261
    • 84907973364 scopus 로고    scopus 로고
    • Vector platforms for gene therapy of inherited retinopathies
    • Trapani, I., Puppo, A. and Auricchio, A. (2014). Vector platforms for gene therapy of inherited retinopathies. Prog. Retin. Eye Res. 43, 108-128.
    • (2014) Prog. Retin. Eye Res. , vol.43 , pp. 108-128
    • Trapani, I.1    Puppo, A.2    Auricchio, A.3
  • 262
    • 0026053969 scopus 로고
    • The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein
    • Travis, G. H., Sutcliffe, J. G. and Bok, D. (1991). The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron 6, 61-70.
    • (1991) Neuron , vol.6 , pp. 61-70
    • Travis, G.H.1    Sutcliffe, J.G.2    Bok, D.3
  • 263
    • 33847021802 scopus 로고    scopus 로고
    • Diseases caused by defects in the visual cycle: Retinoids as potential therapeutic agents
    • Travis, G. H., Golczak, M., Moise, A. R. and Palczewski, K. (2007). Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents. Annu. Rev. Pharmacol. Toxicol. 47, 469-512.
    • (2007) Annu. Rev. Pharmacol. Toxicol. , vol.47 , pp. 469-512
    • Travis, G.H.1    Golczak, M.2    Moise, A.R.3    Palczewski, K.4
  • 264
    • 0029740113 scopus 로고    scopus 로고
    • Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase
    • Tsang, S. H., Gouras, P., Yamashita, C. K., Kjeldbye, H., Fisher, J., Farber, D. B. and Goff, S. P. (1996). Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase. Science 272, 1026-1029.
    • (1996) Science , vol.272 , pp. 1026-1029
    • Tsang, S.H.1    Gouras, P.2    Yamashita, C.K.3    Kjeldbye, H.4    Fisher, J.5    Farber, D.B.6    Goff, S.P.7
  • 266
    • 33847176595 scopus 로고    scopus 로고
    • Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness
    • Tsang, S. H., Woodruff, M. L., Jun, L., Mahajan, V., Yamashita, C. K., Pedersen, R., Lin, C. S., Goff, S. P., Rosenberg, T., Larsen, M. et al. (2007). Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Hum. Mutat. 28, 243-254.
    • (2007) Hum. Mutat. , vol.28 , pp. 243-254
    • Tsang, S.H.1    Woodruff, M.L.2    Jun, L.3    Mahajan, V.4    Yamashita, C.K.5    Pedersen, R.6    Lin, C.S.7    Goff, S.P.8    Rosenberg, T.9    Larsen, M.10
  • 267
    • 79955711373 scopus 로고    scopus 로고
    • Transplantation of adult mouse iPS cell-derived photoreceptor precursors restores retinal structure and function in degenerative mice
    • Tucker, B. A., Park, I. H., Qi, S. D., Klassen, H. J., Jiang, C., Yao, J., Redenti, S., Daley, G. Q. and Young, M. J. (2011). Transplantation of adult mouse iPS cell-derived photoreceptor precursors restores retinal structure and function in degenerative mice. PLoS ONE 6, e18992.
    • (2011) PLoS ONE , vol.6 , pp. e18992
    • Tucker, B.A.1    Park, I.H.2    Qi, S.D.3    Klassen, H.J.4    Jiang, C.5    Yao, J.6    Redenti, S.7    Daley, G.Q.8    Young, M.J.9
  • 269
    • 0028300856 scopus 로고
    • Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
    • Vaithinathan, R., Berson, E. L. and Dryja, T. P. (1994). Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics 21, 461-463.
    • (1994) Genomics , vol.21 , pp. 461-463
    • Vaithinathan, R.1    Berson, E.L.2    Dryja, T.P.3
  • 271
    • 0036537524 scopus 로고    scopus 로고
    • The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
    • van der Spuy, J., Chapple, J. P., Clark, B. J., Luthert, P. J., Sethi, C. S. and Cheetham, M. E. (2002). The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. Hum. Mol. Genet. 11, 823-831.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 823-831
    • Van Der Spuy, J.1    Chapple, J.P.2    Clark, B.J.3    Luthert, P.J.4    Sethi, C.S.5    Cheetham, M.E.6
  • 276
    • 34047265314 scopus 로고    scopus 로고
    • Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations
    • Vijayasarathy, C., Takada, Y., Zeng, Y., Bush, R. A. and Sieving, P. A. (2007). Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. Invest. Ophthalmol. Vis. Sci. 48, 991-1000.
    • (2007) Invest. Ophthalmol. Vis. Sci. , vol.48 , pp. 991-1000
    • Vijayasarathy, C.1    Takada, Y.2    Zeng, Y.3    Bush, R.A.4    Sieving, P.A.5
  • 277
  • 279
    • 0034733706 scopus 로고    scopus 로고
    • The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins
    • Wang, Y., Sugita, S. and Sudhof, T. C. (2000). The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins. J. Biol. Chem. 275, 20033-20044.
    • (2000) J. Biol. Chem. , vol.275 , pp. 20033-20044
    • Wang, Y.1    Sugita, S.2    Sudhof, T.C.3
  • 280
    • 84877707375 scopus 로고    scopus 로고
    • One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering
    • Wang, H., Yang, H., Shivalila, C. S., Dawlaty, M. M., Cheng, A. W., Zhang, F. and Jaenisch, R. (2013). One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering. Cell 153, 910-918.
    • (2013) Cell , vol.153 , pp. 910-918
    • Wang, H.1    Yang, H.2    Shivalila, C.S.3    Dawlaty, M.M.4    Cheng, A.W.5    Zhang, F.6    Jaenisch, R.7
  • 281
    • 18344370953 scopus 로고    scopus 로고
    • Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
    • Weber, B. H., Schrewe, H., Molday, L. L., Gehrig, A., White, K. L., Seeliger, M. W., Jaissle, G. B., Friedburg, C., Tamm, E. and Molday, R. S. (2002). Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc. Natl. Acad. Sci. USA 99, 6222-6227.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 6222-6227
    • Weber, B.H.1    Schrewe, H.2    Molday, L.L.3    Gehrig, A.4    White, K.L.5    Seeliger, M.W.6    Jaissle, G.B.7    Friedburg, C.8    Tamm, E.9    Molday, R.S.10
  • 284
    • 0035576022 scopus 로고    scopus 로고
    • Species-specific differences in expression of G-protein-coupled receptor kinase (GRK) 7 and GRK1 in mammalian cone photoreceptor cells: Implications for cone cell phototransduction
    • Weiss, E. R., Ducceschi, M. H., Horner, T. J., Li, A., Craft, C. M. and Osawa, S. (2001). Species-specific differences in expression of G-protein-coupled receptor kinase (GRK) 7 and GRK1 in mammalian cone photoreceptor cells: implications for cone cell phototransduction. J. Neurosci. 21, 9175-9184.
    • (2001) J. Neurosci. , vol.21 , pp. 9175-9184
    • Weiss, E.R.1    Ducceschi, M.H.2    Horner, T.J.3    Li, A.4    Craft, C.M.5    Osawa, S.6
  • 285
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
    • Weng, J., Mata, N. L., Azarian, S. M., Tzekov, R. T., Birch, D. G. and Travis, G. H. (1999). Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98, 13-23.
    • (1999) Cell , vol.98 , pp. 13-23
    • Weng, J.1    Mata, N.L.2    Azarian, S.M.3    Tzekov, R.T.4    Birch, D.G.5    Travis, G.H.6
  • 286
    • 84872369306 scopus 로고    scopus 로고
    • Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa
    • Wert, K. J., Davis, R. J., Sancho-Pelluz, J., Nishina, P. M. and Tsang, S. H. (2013). Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa. Hum. Mol. Genet. 22, 558-567.
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 558-567
    • Wert, K.J.1    Davis, R.J.2    Sancho-Pelluz, J.3    Nishina, P.M.4    Tsang, S.H.5
  • 289
    • 77949773491 scopus 로고    scopus 로고
    • Photoreceptor degeneration: Genetic and mechanistic dissection of a complex trait
    • Wright, A. F., Chakarova, C. F., Abd El-Aziz, M. M. and Bhattacharya, S. S. (2010). Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat. Rev. Genet. 11, 273-284.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 273-284
    • Wright, A.F.1    Chakarova, C.F.2    Abd El-Aziz, M.M.3    Bhattacharya, S.S.4
  • 291
    • 0030842611 scopus 로고    scopus 로고
    • Prolonged photoresponses in transgenic mouse rods lacking arrestin
    • Xu, J., Dodd, R. L., Makino, C. L., Simon, M. I., Baylor, D. A. and Chen, J. (1997). Prolonged photoresponses in transgenic mouse rods lacking arrestin. Nature 389, 505-509.
    • (1997) Nature , vol.389 , pp. 505-509
    • Xu, J.1    Dodd, R.L.2    Makino, C.L.3    Simon, M.I.4    Baylor, D.A.5    Chen, J.6
  • 292
    • 0031038950 scopus 로고    scopus 로고
    • Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness
    • Yamamoto, S., Sippel, K. C., Berson, E. L. and Dryja, T. P. (1997). Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat. Genet. 15, 175-178.
    • (1997) Nat. Genet. , vol.15 , pp. 175-178
    • Yamamoto, S.1    Sippel, K.C.2    Berson, E.L.3    Dryja, T.P.4
  • 294
    • 84884289608 scopus 로고    scopus 로고
    • One-step generation of mice carrying reporter and conditional alleles by CRISPR/Cas-mediated genome engineering
    • Yang, H., Wang, H., Shivalila, C. S., Cheng, A. W., Shi, L. and Jaenisch, R. (2013). One-step generation of mice carrying reporter and conditional alleles by CRISPR/Cas-mediated genome engineering. Cell 154, 1370-1379.
    • (2013) Cell , vol.154 , pp. 1370-1379
    • Yang, H.1    Wang, H.2    Shivalila, C.S.3    Cheng, A.W.4    Shi, L.5    Jaenisch, R.6
  • 295
    • 78649443884 scopus 로고    scopus 로고
    • Robust cell integration from co-transplantation of biodegradable MMP2-PLGA microspheres with retinal progenitor cells
    • Yao, J., Tucker, B. A., Zhang, X., Checa-Casalengua, P., Herrero-Vanrell, R. and Young, M. J. (2011). Robust cell integration from co-transplantation of biodegradable MMP2-PLGA microspheres with retinal progenitor cells. Biomaterials 32, 1041-1050.
    • (2011) Biomaterials , vol.32 , pp. 1041-1050
    • Yao, J.1    Tucker, B.A.2    Zhang, X.3    Checa-Casalengua, P.4    Herrero-Vanrell, R.5    Young, M.J.6
  • 296
    • 3543082672 scopus 로고    scopus 로고
    • Expression profiling of the developing and mature Nrl-/- mouse retina: Identification of retinal disease candidates and transcriptional regulatory targets of Nrl
    • Yoshida, S., Mears, A. J., Friedman, J. S., Carter, T., He, S., Oh, E., Jing, Y., Farjo, R., Fleury, G., Barlow, C. et al. (2004). Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl. Hum. Mol. Genet. 13, 1487-1503.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1487-1503
    • Yoshida, S.1    Mears, A.J.2    Friedman, J.S.3    Carter, T.4    He, S.5    Oh, E.6    Jing, Y.7    Farjo, R.8    Fleury, G.9    Barlow, C.10
  • 297
    • 4744346479 scopus 로고    scopus 로고
    • Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays
    • Yu, J., He, S., Friedman, J. S., Akimoto, M., Ghosh, D., Mears, A. J., Hicks, D. and Swaroop, A. (2004). Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays. J. Biol. Chem. 279, 42211-42220.
    • (2004) J. Biol. Chem. , vol.279 , pp. 42211-42220
    • Yu, J.1    He, S.2    Friedman, J.S.3    Akimoto, M.4    Ghosh, D.5    Mears, A.J.6    Hicks, D.7    Swaroop, A.8
  • 300
    • 0035168415 scopus 로고    scopus 로고
    • A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
    • Zhang, K., Kniazeva, M., Han, M., Li, W., Yu, Z., Yang, Z., Li, Y., Metzker, M. L., Allikmets, R., Zack, D. J. et al. (2001). A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat. Genet. 27, 89-93.
    • (2001) Nat. Genet. , vol.27 , pp. 89-93
    • Zhang, K.1    Kniazeva, M.2    Han, M.3    Li, W.4    Yu, Z.5    Yang, Z.6    Li, Y.7    Metzker, M.L.8    Allikmets, R.9    Zack, D.J.10
  • 301
    • 34547480479 scopus 로고    scopus 로고
    • Deletion of PrBP/delta impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments
    • Zhang, H., Li, S., Doan, T., Rieke, F., Detwiler, P. B., Frederick, J. M. and Baehr, W. (2007). Deletion of PrBP/delta impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments. Proc. Natl. Acad. Sci. USA 104, 8857-8862.
    • (2007) Proc. Natl. Acad. Sci. USA , vol.104 , pp. 8857-8862
    • Zhang, H.1    Li, S.2    Doan, T.3    Rieke, F.4    Detwiler, P.B.5    Frederick, J.M.6    Baehr, W.7
  • 302
    • 66849109050 scopus 로고    scopus 로고
    • Knockout of GARPs and the β-subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity
    • Zhang, Y., Molday, L. L., Molday, R. S., Sarfare, S. S., Woodruff, M. L., Fain, G. L., Kraft, T. W. and Pittler, S. J. (2009). Knockout of GARPs and the β-subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity. J. Cell Sci. 122, 1192-1200.
    • (2009) J. Cell Sci. , vol.122 , pp. 1192-1200
    • Zhang, Y.1    Molday, L.L.2    Molday, R.S.3    Sarfare, S.S.4    Woodruff, M.L.5    Fain, G.L.6    Kraft, T.W.7    Pittler, S.J.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.