-
1
-
-
0035032662
-
Gene therapy restores vision in a canine model of childhood blindness
-
Acland, G. M., Aguirre, G. D., Ray, J., Zhang, Q., Aleman, T. S., Cideciyan, A. V., Pearce-Kelling, S. E., Anand, V., Zeng, Y., Maguire, A. M. et al. (2001). Gene therapy restores vision in a canine model of childhood blindness. Nat. Genet. 28, 92-95.
-
(2001)
Nat. Genet.
, vol.28
, pp. 92-95
-
-
Acland, G.M.1
Aguirre, G.D.2
Ray, J.3
Zhang, Q.4
Aleman, T.S.5
Cideciyan, A.V.6
Pearce-Kelling, S.E.7
Anand, V.8
Zeng, Y.9
Maguire, A.M.10
-
2
-
-
0028123090
-
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
-
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
-
4
-
-
12944293118
-
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse
-
Akhmedov, N. B., Piriev, N. I., Chang, B., Rapoport, A. L., Hawes, N. L., Nishina, P. M., Nusinowitz, S., Heckenlively, J. R., Roderick, T. H., Kozak, C. A. et al. (2000). A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc. Natl. Acad. Sci. USA 97, 5551-5556.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 5551-5556
-
-
Akhmedov, N.B.1
Piriev, N.I.2
Chang, B.3
Rapoport, A.L.4
Hawes, N.L.5
Nishina, P.M.6
Nusinowitz, S.7
Heckenlively, J.R.8
Roderick, T.H.9
Kozak, C.A.10
-
5
-
-
33644853775
-
Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors
-
Akimoto, M., Cheng, H., Zhu, D., Brzezinski, J. A., Khanna, R., Filippova, E., Oh, E. C., Jing, Y., Linares, J. L., Brooks, M. et al. (2006). Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proc. Natl. Acad. Sci. USA 103, 3890-3895.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 3890-3895
-
-
Akimoto, M.1
Cheng, H.2
Zhu, D.3
Brzezinski, J.A.4
Khanna, R.5
Filippova, E.6
Oh, E.C.7
Jing, Y.8
Linares, J.L.9
Brooks, M.10
-
6
-
-
34249987381
-
Restoration of cone vision in a mouse model of achromatopsia
-
Alexander, J. J., Umino, Y., Everhart, D., Chang, B., Min, S. H., Li, Q., Timmers, A. M., Hawes, N. L., Pang, J. J., Barlow, R. B. et al. (2007). Restoration of cone vision in a mouse model of achromatopsia. Nat. Med. 13, 685-687.
-
(2007)
Nat. Med.
, vol.13
, pp. 685-687
-
-
Alexander, J.J.1
Umino, Y.2
Everhart, D.3
Chang, B.4
Min, S.H.5
Li, Q.6
Timmers, A.M.7
Hawes, N.L.8
Pang, J.J.9
Barlow, R.B.10
-
7
-
-
0031230466
-
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
-
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
-
9
-
-
0036992832
-
X-linked recessive atrophic macular degeneration from RPGR mutation
-
Ayyagari, R., Demirci, F. Y., Liu, J., Bingham, E. L., Stringham, H., Kakuk, L. E., Boehnke, M., Gorin, M. B., Richards, J. E. and Sieving, P. A. (2002). X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 80, 166-171.
-
(2002)
Genomics
, vol.80
, pp. 166-171
-
-
Ayyagari, R.1
Demirci, F.Y.2
Liu, J.3
Bingham, E.L.4
Stringham, H.5
Kakuk, L.E.6
Boehnke, M.7
Gorin, M.B.8
Richards, J.E.9
Sieving, P.A.10
-
10
-
-
34347224779
-
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
-
Baala, L., Audollent, S., Martinovic, J., Ozilou, C., Babron, M. C., Sivanandamoorthy, S., Saunier, S., Salomon, R., Gonzales, M., Rattenberry, E. et al. (2007). Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am. J. Hum. Genet. 81, 170-179.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 170-179
-
-
Baala, L.1
Audollent, S.2
Martinovic, J.3
Ozilou, C.4
Babron, M.C.5
Sivanandamoorthy, S.6
Saunier, S.7
Salomon, R.8
Gonzales, M.9
Rattenberry, E.10
-
11
-
-
34247843072
-
The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors
-
Baehr, W., Karan, S., Maeda, T., Luo, D. G., Li, S., Bronson, J. D., Watt, C. B., Yau, K. W., Frederick, J. M. and Palczewski, K. (2007). The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors. J. Biol. Chem. 282, 8837-8847.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 8837-8847
-
-
Baehr, W.1
Karan, S.2
Maeda, T.3
Luo, D.G.4
Li, S.5
Bronson, J.D.6
Watt, C.B.7
Yau, K.W.8
Frederick, J.M.9
Palczewski, K.10
-
12
-
-
44249120315
-
Effect of gene therapy on visual function in Leber's congenital amaurosis
-
Bainbridge, J. W., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N. et al. (2008). Effect of gene therapy on visual function in Leber's congenital amaurosis. N. Engl. J. Med. 358, 2231-2239.
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 2231-2239
-
-
Bainbridge, J.W.1
Smith, A.J.2
Barker, S.S.3
Robbie, S.4
Henderson, R.5
Balaggan, K.6
Viswanathan, A.7
Holder, G.E.8
Stockman, A.9
Tyler, N.10
-
13
-
-
0036241136
-
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
-
14
-
-
17144456542
-
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa
-
Banerjee, P., Kleyn, P. W., Knowles, J. A., Lewis, C. A., Ross, B. M., Parano, E., Kovats, S. G., Lee, J. J., Penchaszadeh, G. K., Ott, J. et al. (1998). TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat. Genet. 18, 177-179.
-
(1998)
Nat. Genet.
, vol.18
, pp. 177-179
-
-
Banerjee, P.1
Kleyn, P.W.2
Knowles, J.A.3
Lewis, C.A.4
Ross, B.M.5
Parano, E.6
Kovats, S.G.7
Lee, J.J.8
Penchaszadeh, G.K.9
Ott, J.10
-
15
-
-
0035022297
-
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
-
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
-
17
-
-
12144286591
-
Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver
-
Batten, M. L., Imanishi, Y., Maeda, T., Tu, D. C., Moise, A. R., Bronson, D., Possin, D., Van Gelder, R. N., Baehr, W. and Palczewski, K. (2004). Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver. J. Biol. Chem. 279, 10422-10432.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 10422-10432
-
-
Batten, M.L.1
Imanishi, Y.2
Maeda, T.3
Tu, D.C.4
Moise, A.R.5
Bronson, D.6
Possin, D.7
Van Gelder, R.N.8
Baehr, W.9
Palczewski, K.10
-
18
-
-
0029893012
-
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
-
-
77954621518
-
The molecular basis of human retinal and vitreoretinal diseases
-
Berger, W., Kloeckener-Gruissem, B. and Neidhardt, J. (2010). The molecular basis of human retinal and vitreoretinal diseases. Prog. Retin. Eye Res. 29, 335-375.
-
(2010)
Prog. Retin. Eye Res.
, vol.29
, pp. 335-375
-
-
Berger, W.1
Kloeckener-Gruissem, B.2
Neidhardt, J.3
-
20
-
-
0032900648
-
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
-
Bessant, D. A., Payne, A. M., Mitton, K. P., Wang, Q. L., Swain, P. K., Plant, C., Bird, A. C., Zack, D. J., Swaroop, A. and Bhattacharya, S. S. (1999). A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat. Genet. 21, 355-356.
-
(1999)
Nat. Genet.
, vol.21
, pp. 355-356
-
-
Bessant, D.A.1
Payne, A.M.2
Mitton, K.P.3
Wang, Q.L.4
Swain, P.K.5
Plant, C.6
Bird, A.C.7
Zack, D.J.8
Swaroop, A.9
Bhattacharya, S.S.10
-
21
-
-
0033595022
-
Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3
-
Biel, M., Seeliger, M., Pfeifer, A., Kohler, K., Gerstner, A., Ludwig, A., Jaissle, G., Fauser, S., Zrenner, E. and Hofmann, F. (1999). Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. Proc. Natl. Acad. Sci. USA 96, 7553-7557.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 7553-7557
-
-
Biel, M.1
Seeliger, M.2
Pfeifer, A.3
Kohler, K.4
Gerstner, A.5
Ludwig, A.6
Jaissle, G.7
Fauser, S.8
Zrenner, E.9
Hofmann, F.10
-
22
-
-
46549086021
-
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
-
Boon, C. J., den Hollander, A. I., Hoyng, C. B., Cremers, F. P., Klevering, B. J. and Keunen, J. E. (2008). The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog. Retin. Eye Res. 27, 213-235.
-
(2008)
Prog. Retin. Eye Res.
, vol.27
, pp. 213-235
-
-
Boon, C.J.1
Den Hollander, A.I.2
Hoyng, C.B.3
Cremers, F.P.4
Klevering, B.J.5
Keunen, J.E.6
-
23
-
-
77956208538
-
Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse
-
Boye, S. E., Boye, S. L., Pang, J., Ryals, R., Everhart, D., Umino, Y., Neeley, A. W., Besharse, J., Barlow, R. and Hauswirth, W. W. (2010). Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. PLoS ONE 5, e11306.
-
(2010)
PLoS ONE
, vol.5
, pp. e11306
-
-
Boye, S.E.1
Boye, S.L.2
Pang, J.3
Ryals, R.4
Everhart, D.5
Umino, Y.6
Neeley, A.W.7
Besharse, J.8
Barlow, R.9
Hauswirth, W.W.10
-
24
-
-
84873328062
-
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease
-
Branham, K., Othman, M., Brumm, M., Karoukis, A. J., Atmaca-Sonmez, P., Yashar, B. M., Schwartz, S. B., Stover, N. B., Trzupek, K., Wheaton, D. et al. (2012). Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest. Ophthalmol. Vis. Sci. 53, 8232-8237.
-
(2012)
Invest. Ophthalmol. Vis. Sci.
, vol.53
, pp. 8232-8237
-
-
Branham, K.1
Othman, M.2
Brumm, M.3
Karoukis, A.J.4
Atmaca-Sonmez, P.5
Yashar, B.M.6
Schwartz, S.B.7
Stover, N.B.8
Trzupek, K.9
Wheaton, D.10
-
25
-
-
18344391605
-
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa
-
Breuer, D. K., Yashar, B. M., Filippova, E., Hiriyanna, S., Lyons, R. H., Mears, A. J., Asaye, B., Acar, C., Vervoort, R., Wright, A. F. et al. (2002). A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am. J. Hum. Genet. 70, 1545-1554.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1545-1554
-
-
Breuer, D.K.1
Yashar, B.M.2
Filippova, E.3
Hiriyanna, S.4
Lyons, R.H.5
Mears, A.J.6
Asaye, B.7
Acar, C.8
Vervoort, R.9
Wright, A.F.10
-
26
-
-
83055178312
-
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
-
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
-
28
-
-
70350223975
-
Derivation of functional retinal pigmented epithelium from induced pluripotent stem cells
-
Buchholz, D. E., Hikita, S. T., Rowland, T. J., Friedrich, A. M., Hinman, C. R., Johnson, L. V. and Clegg, D. O. (2009). Derivation of functional retinal pigmented epithelium from induced pluripotent stem cells. Stem Cells 27, 2427-2434.
-
(2009)
Stem Cells
, vol.27
, pp. 2427-2434
-
-
Buchholz, D.E.1
Hikita, S.T.2
Rowland, T.J.3
Friedrich, A.M.4
Hinman, C.R.5
Johnson, L.V.6
Clegg, D.O.7
-
29
-
-
3242885306
-
Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina
-
Bumsted O'Brien, K. M., Cheng, H., Jiang, Y., Schulte, D., Swaroop, A. and Hendrickson, A. E. (2004). Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina. Invest. Ophthalmol. Vis. Sci. 45, 2807-2812.
-
(2004)
Invest. Ophthalmol. Vis. Sci.
, vol.45
, pp. 2807-2812
-
-
Bumsted O'Brien, K.M.1
Cheng, H.2
Jiang, Y.3
Schulte, D.4
Swaroop, A.5
Hendrickson, A.E.6
-
30
-
-
84902084845
-
Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h-/- mouse
-
Byrne, L. C., Oztürk, B. E., Lee, T., Fortuny, C., Visel, M., Dalkara, D., Schaffer, D. V. and Flannery, J. G. (2014). Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h-/- mouse. Gene Ther. 21, 585-592.
-
(2014)
Gene Ther.
, vol.21
, pp. 585-592
-
-
Byrne, L.C.1
Oztürk, B.E.2
Lee, T.3
Fortuny, C.4
Visel, M.5
Dalkara, D.6
Schaffer, D.V.7
Flannery, J.G.8
-
31
-
-
0015291738
-
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
-
32
-
-
1842570287
-
Phototransduction in transgenic mice after targeted deletion of the rod transducin alpha -subunit
-
Calvert, P. D., Krasnoperova, N. V., Lyubarsky, A. L., Isayama, T., Nicoló, M., Kosaras, B., Wong, G., Gannon, K. S., Margolskee, R. F., Sidman, R. L. et al. (2000). Phototransduction in transgenic mice after targeted deletion of the rod transducin alpha -subunit. Proc. Natl. Acad. Sci. USA 97, 13913-13918.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 13913-13918
-
-
Calvert, P.D.1
Krasnoperova, N.V.2
Lyubarsky, A.L.3
Isayama, T.4
Nicoló, M.5
Kosaras, B.6
Wong, G.7
Gannon, K.S.8
Margolskee, R.F.9
Sidman, R.L.10
-
33
-
-
79958843614
-
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
-
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
-
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
-
36
-
-
34250213250
-
Functional comparisons of visual arrestins in rod photoreceptors of transgenic mice
-
Chan, S., Rubin, W. W., Mendez, A., Liu, X., Song, X., Hanson, S. M., Craft, C. M., Gurevich, V. V., Burns, M. E. and Chen, J. (2007). Functional comparisons of visual arrestins in rod photoreceptors of transgenic mice. Invest. Ophthalmol. Vis. Sci. 48, 1968-1975.
-
(2007)
Invest. Ophthalmol. Vis. Sci.
, vol.48
, pp. 1968-1975
-
-
Chan, S.1
Rubin, W.W.2
Mendez, A.3
Liu, X.4
Song, X.5
Hanson, S.M.6
Craft, C.M.7
Gurevich, V.V.8
Burns, M.E.9
Chen, J.10
-
37
-
-
0036181472
-
Retinal degeneration mutants in the mouse
-
Chang, B., Hawes, N. L., Hurd, R. E., Davisson, M. T., Nusinowitz, S. and Heckenlively, J. R. (2002). Retinal degeneration mutants in the mouse. Vision Res. 42, 517-525.
-
(2002)
Vision Res.
, vol.42
, pp. 517-525
-
-
Chang, B.1
Hawes, N.L.2
Hurd, R.E.3
Davisson, M.T.4
Nusinowitz, S.5
Heckenlively, J.R.6
-
38
-
-
34247146385
-
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2
-
Chang, B., Dacey, M. S., Hawes, N. L., Hitchcock, P. F., Milam, A. H., Atmaca-Sonmez, P., Nusinowitz, S. and Heckenlively, J. R. (2006a). Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest. Ophthalmol. Vis. Sci. 47, 5017-5021.
-
(2006)
Invest. Ophthalmol. Vis. Sci.
, vol.47
, pp. 5017-5021
-
-
Chang, B.1
Dacey, M.S.2
Hawes, N.L.3
Hitchcock, P.F.4
Milam, A.H.5
Atmaca-Sonmez, P.6
Nusinowitz, S.7
Heckenlively, J.R.8
-
39
-
-
33744757686
-
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
-
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
-
41
-
-
0033616582
-
Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase
-
Chen, C. K., Burns, M. E., Spencer, M., Niemi, G. A., Chen, J., Hurley, J. B., Baylor, D. A. and Simon, M. I. (1999). Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase. Proc. Natl. Acad. Sci. USA 96, 3718-3722.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 3718-3722
-
-
Chen, C.K.1
Burns, M.E.2
Spencer, M.3
Niemi, G.A.4
Chen, J.5
Hurley, J.B.6
Baylor, D.A.7
Simon, M.I.8
-
42
-
-
84890086440
-
Systems pharmacology identifies drug targets for Stargardt disease-associated retinal degeneration
-
Chen, Y., Palczewska, G., Mustafi, D., Golczak, M., Dong, Z., Sawada, O., Maeda, T., Maeda, A. and Palczewski, K. (2013). Systems pharmacology identifies drug targets for Stargardt disease-associated retinal degeneration. J. Clin. Invest. 123, 5119-5134.
-
(2013)
J. Clin. Invest.
, vol.123
, pp. 5119-5134
-
-
Chen, Y.1
Palczewska, G.2
Mustafi, D.3
Golczak, M.4
Dong, Z.5
Sawada, O.6
Maeda, T.7
Maeda, A.8
Palczewski, K.9
-
43
-
-
84897414068
-
Inherent instability of the retinitis pigmentosa P23H mutant opsin
-
Chen, Y., Jastrzebska, B., Cao, P., Zhang, J., Wang, B., Sun, W., Yuan, Y., Feng, Z. and Palczewski, K. (2014). Inherent instability of the retinitis pigmentosa P23H mutant opsin. J. Biol. Chem. 289, 9288-9303.
-
(2014)
J. Biol. Chem.
, vol.289
, pp. 9288-9303
-
-
Chen, Y.1
Jastrzebska, B.2
Cao, P.3
Zhang, J.4
Wang, B.5
Sun, W.6
Yuan, Y.7
Feng, Z.8
Palczewski, K.9
-
44
-
-
33747884762
-
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
-
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
-
46
-
-
84874993295
-
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa
-
Churchill, J. D., Bowne, S. J., Sullivan, L. S., Lewis, R. A., Wheaton, D. K., Birch, D. G., Branham, K. E., Heckenlively, J. R. and Daiger, S. P. (2013). Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 54, 1411-1416.
-
(2013)
Invest. Ophthalmol. Vis. Sci.
, vol.54
, pp. 1411-1416
-
-
Churchill, J.D.1
Bowne, S.J.2
Sullivan, L.S.3
Lewis, R.A.4
Wheaton, D.K.5
Birch, D.G.6
Branham, K.E.7
Heckenlively, J.R.8
Daiger, S.P.9
-
47
-
-
77954620055
-
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
-
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
-
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
-
50
-
-
54449085219
-
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
-
Cideciyan, A. V., Aleman, T. S., Boye, S. L., Schwartz, S. B., Kaushal, S., Roman, A. J., Pang, J. J., Sumaroka, A., Windsor, E. A., Wilson, J. M. et al. (2008). Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc. Natl. Acad. Sci. USA 105, 15112-15117.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 15112-15117
-
-
Cideciyan, A.V.1
Aleman, T.S.2
Boye, S.L.3
Schwartz, S.B.4
Kaushal, S.5
Roman, A.J.6
Pang, J.J.7
Sumaroka, A.8
Windsor, E.A.9
Wilson, J.M.10
-
51
-
-
79952578905
-
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
-
52
-
-
84886744742
-
Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa
-
Conlon, T. J., Deng, W. T., Erger, K., Cossette, T., Pang, J. J., Ryals, R., Clément, N., Cleaver, B., McDoom, I., Boye, S. E. et al. (2013). Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa. Hum. Gene Ther. Clin. Dev. 24, 23-28.
-
(2013)
Hum. Gene Ther. Clin. Dev.
, vol.24
, pp. 23-28
-
-
Conlon, T.J.1
Deng, W.T.2
Erger, K.3
Cossette, T.4
Pang, J.J.5
Ryals, R.6
Clément, N.7
Cleaver, B.8
McDoom, I.9
Boye, S.E.10
-
53
-
-
0026078839
-
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
-
54
-
-
84884787010
-
Advances in the genomics of common eye diseases
-
Cooke Bailey, J. N., Sobrin, L., Pericak-Vance, M. A., Haines, J. L., Hammond, C. J. and Wiggs, J. L. (2013). Advances in the genomics of common eye diseases. Hum. Mol. Genet. 22 R1, R59-R65.
-
(2013)
Hum. Mol. Genet.
, vol.22
, Issue.R1
, pp. R59-R65
-
-
Cooke Bailey, J.N.1
Sobrin, L.2
Pericak-Vance, M.A.3
Haines, J.L.4
Hammond, C.J.5
Wiggs, J.L.6
-
55
-
-
84861862931
-
Munc13-independent vesicle priming at mouse photoreceptor ribbon synapses
-
Cooper, B., Hemmerlein, M., Ammermüller, J., Imig, C., Reim, K., Lipstein, N., Kalla, S., Kawabe, H., Brose, N., Brandstötter, J. H. et al. (2012). Munc13-independent vesicle priming at mouse photoreceptor ribbon synapses. J. Neurosci. 32, 8040-8052.
-
(2012)
J. Neurosci.
, vol.32
, pp. 8040-8052
-
-
Cooper, B.1
Hemmerlein, M.2
Ammermüller, J.3
Imig, C.4
Reim, K.5
Lipstein, N.6
Kalla, S.7
Kawabe, H.8
Brose, N.9
Brandstötter, J.H.10
-
56
-
-
78149296423
-
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
-
57
-
-
77956394013
-
CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors
-
Corbo, J. C., Lawrence, K. A., Karlstetter, M., Myers, C. A., Abdelaziz, M., Dirkes, W., Weigelt, K., Seifert, M., Benes, V., Fritsche, L. G. et al. (2010). CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors. Genome Res. 20, 1512-1525.
-
(2010)
Genome Res.
, vol.20
, pp. 1512-1525
-
-
Corbo, J.C.1
Lawrence, K.A.2
Karlstetter, M.3
Myers, C.A.4
Abdelaziz, M.5
Dirkes, W.6
Weigelt, K.7
Seifert, M.8
Benes, V.9
Fritsche, L.G.10
-
58
-
-
0036130880
-
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
-
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
-
60
-
-
0036204904
-
X-linked cone-rod dystrophy (locus COD1): Identification of mutations in RPGR exon ORF15
-
Demirci, F. Y., Rigatti, B. W., Wen, G., Radak, A. L., Mah, T. S., Baic, C. L., Traboulsi, E. I., Alitalo, T., Ramser, J. and Gorin, M. B. (2002). X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am. J. Hum. Genet. 70, 1049-1053.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1049-1053
-
-
Demirci, F.Y.1
Rigatti, B.W.2
Wen, G.3
Radak, A.L.4
Mah, T.S.5
Baic, C.L.6
Traboulsi, E.I.7
Alitalo, T.8
Ramser, J.9
Gorin, M.B.10
-
61
-
-
33748664605
-
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
-
den Hollander, A. I., Koenekoop, R. K., Yzer, S., Lopez, I., Arends, M. L., Voesenek, K. E., Zonneveld, M. N., Strom, T. M., Meitinger, T., Brunner, H. G. et al. (2006). Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 79, 556-561.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 556-561
-
-
Den Hollander, A.I.1
Koenekoop, R.K.2
Yzer, S.3
Lopez, I.4
Arends, M.L.5
Voesenek, K.E.6
Zonneveld, M.N.7
Strom, T.M.8
Meitinger, T.9
Brunner, H.G.10
-
62
-
-
0031426863
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
69
-
-
0037311089
-
An RCS-like retinal dystrophy phenotype in mer knockout mice
-
Duncan, J. L., LaVail, M. M., Yasumura, D., Matthes, M. T., Yang, H., Trautmann, N., Chappelow, A. V., Feng, W., Earp, H. S., Matsushima, G. K. et al. (2003). An RCS-like retinal dystrophy phenotype in mer knockout mice. Invest. Ophthalmol. Vis. Sci. 44, 826-838.
-
(2003)
Invest. Ophthalmol. Vis. Sci.
, vol.44
, pp. 826-838
-
-
Duncan, J.L.1
LaVail, M.M.2
Yasumura, D.3
Matthes, M.T.4
Yang, H.5
Trautmann, N.6
Chappelow, A.V.7
Feng, W.8
Earp, H.S.9
Matsushima, G.K.10
-
70
-
-
77955575605
-
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
-
71
-
-
79953749322
-
Self-organizing optic-cup morphogenesis in three-dimensional culture
-
Eiraku, M., Takata, N., Ishibashi, H., Kawada, M., Sakakura, E., Okuda, S., Sekiguchi, K., Adachi, T. and Sasai, Y. (2011). Self-organizing optic-cup morphogenesis in three-dimensional culture. Nature 472, 51-56.
-
(2011)
Nature
, vol.472
, pp. 51-56
-
-
Eiraku, M.1
Takata, N.2
Ishibashi, H.3
Kawada, M.4
Sakakura, E.5
Okuda, S.6
Sekiguchi, K.7
Adachi, T.8
Sasai, Y.9
-
72
-
-
50949130569
-
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction
-
Ellouze, S., Augustin, S., Bouaita, A., Bonnet, C., Simonutti, M., Forster, V., Picaud, S., Sahel, J. A. and Corral-Debrinski, M. (2008). Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. Am. J. Hum. Genet. 83, 373-387.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 373-387
-
-
Ellouze, S.1
Augustin, S.2
Bouaita, A.3
Bonnet, C.4
Simonutti, M.5
Forster, V.6
Picaud, S.7
Sahel, J.A.8
Corral-Debrinski, M.9
-
73
-
-
0032511101
-
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
-
Eudy, J. D., Weston, M. D., Yao, S., Hoover, D. M., Rehm, H. L., Ma-Edmonds, M., Yan, D., Ahmad, I., Cheng, J. J., Ayuso, C. et al. (1998). Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280, 1753-1757.
-
(1998)
Science
, vol.280
, pp. 1753-1757
-
-
Eudy, J.D.1
Weston, M.D.2
Yao, S.3
Hoover, D.M.4
Rehm, H.L.5
Ma-Edmonds, M.6
Yan, D.7
Ahmad, I.8
Cheng, J.J.9
Ayuso, C.10
-
74
-
-
0017081995
-
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
-
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
-
76
-
-
20944445215
-
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
-
Fath, M. A., Mullins, R. F., Searby, C., Nishimura, D. Y., Wei, J., Rahmouni, K., Davis, R. E., Tayeh, M. K., Andrews, M., Yang, B. et al. (2005). Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum. Mol. Genet. 14, 1109-1118.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1109-1118
-
-
Fath, M.A.1
Mullins, R.F.2
Searby, C.3
Nishimura, D.Y.4
Wei, J.5
Rahmouni, K.6
Davis, R.E.7
Tayeh, M.K.8
Andrews, M.9
Yang, B.10
-
77
-
-
79959955179
-
Retinitis pigmentosa: Genes and disease mechanisms
-
Parmeggiani, F., Sorrentino, F. S., Ponzin, D., Barbaro, V., Ferrari, S. and Di Iorio, E. (2011). Retinitis pigmentosa: genes and disease mechanisms. Curr. Genomics 12, 238-249.
-
(2011)
Curr. Genomics
, vol.12
, pp. 238-249
-
-
Parmeggiani, F.1
Sorrentino, F.S.2
Ponzin, D.3
Barbaro, V.4
Ferrari, S.5
Di Iorio, E.6
-
78
-
-
0030669568
-
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
-
Freund, C. L., Gregory-Evans, C. Y., Furukawa, T., Papaioannou, M., Looser, J., Ploder, L., Bellingham, J., Ng, D., Herbrick, J. A., Duncan, A. et al. (1997). Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91, 543-553.
-
(1997)
Cell
, vol.91
, pp. 543-553
-
-
Freund, C.L.1
Gregory-Evans, C.Y.2
Furukawa, T.3
Papaioannou, M.4
Looser, J.5
Ploder, L.6
Bellingham, J.7
Ng, D.8
Herbrick, J.A.9
Duncan, A.10
-
79
-
-
84906858173
-
Age-related macular degeneration: Genetics and biology coming together
-
Fritsche, L. G., Fariss, R. N., Stambolian, D., Abecasis, G. R., Curcio, C. A. and Swaroop, A. (2014). Age-related macular degeneration: genetics and biology coming together. Annu. Rev. Genomics Hum. Genet. 15, 151-171.
-
(2014)
Annu. Rev. Genomics Hum. Genet.
, vol.15
, pp. 151-171
-
-
Fritsche, L.G.1
Fariss, R.N.2
Stambolian, D.3
Abecasis, G.R.4
Curcio, C.A.5
Swaroop, A.6
-
80
-
-
0030725687
-
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
-
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
-
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
-
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
-
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
-
85
-
-
0028860302
-
A type VII myosin encoded by the mouse deafness gene shaker-1
-
Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P. and Brown, S. D. (1995). A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374, 62-64.
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson, F.1
Walsh, J.2
Mburu, P.3
Varela, A.4
Brown, K.A.5
Antonio, M.6
Beisel, K.W.7
Steel, K.P.8
Brown, S.D.9
-
86
-
-
84883433950
-
Photoreceptor precursors derived from three-dimensional embryonic stem cell cultures integrate and mature within adult degenerate retina
-
Gonzalez-Cordero, A., West, E. L., Pearson, R. A., Duran, Y., Carvalho, L. S., Chu, C. J., Naeem, A., Blackford, S. J., Georgiadis, A., Lakowski, J. et al. (2013). Photoreceptor precursors derived from three-dimensional embryonic stem cell cultures integrate and mature within adult degenerate retina. Nat. Biotechnol. 31, 741-747.
-
(2013)
Nat. Biotechnol.
, vol.31
, pp. 741-747
-
-
Gonzalez-Cordero, A.1
West, E.L.2
Pearson, R.A.3
Duran, Y.4
Carvalho, L.S.5
Chu, C.J.6
Naeem, A.7
Blackford, S.J.8
Georgiadis, A.9
Lakowski, J.10
-
87
-
-
0031255068
-
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
-
Gu, S. M., Thompson, D. A., Srikumari, C. R., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J. et al. (1997). Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 17, 194-197.
-
(1997)
Nat. Genet.
, vol.17
, pp. 194-197
-
-
Gu, S.M.1
Thompson, D.A.2
Srikumari, C.R.3
Lorenz, B.4
Finckh, U.5
Nicoletti, A.6
Murthy, K.R.7
Rathmann, M.8
Kumaramanickavel, G.9
Denton, M.J.10
-
88
-
-
79960877703
-
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
-
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
-
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
-
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
-
92
-
-
0033975061
-
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
-
Haider, N. B., Jacobson, S. G., Cideciyan, A. V., Swiderski, R., Streb, L. M., Searby, C., Beck, G., Hockey, R., Hanna, D. B., Gorman, S. et al. (2000). Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat. Genet. 24, 127-131.
-
(2000)
Nat. Genet.
, vol.24
, pp. 127-131
-
-
Haider, N.B.1
Jacobson, S.G.2
Cideciyan, A.V.3
Swiderski, R.4
Streb, L.M.5
Searby, C.6
Beck, G.7
Hockey, R.8
Hanna, D.B.9
Gorman, S.10
-
93
-
-
84860846929
-
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
-
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
-
95
-
-
84860572048
-
Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis
-
Hao, H., Kim, D. S., Klocke, B., Johnson, K. R., Cui, K., Gotoh, N., Zang, C., Gregorski, J., Gieser, L., Peng, W. et al. (2012). Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis. PLoS Genet. 8, e1002649.
-
(2012)
PLoS Genet.
, vol.8
, pp. e1002649
-
-
Hao, H.1
Kim, D.S.2
Klocke, B.3
Johnson, K.R.4
Cui, K.5
Gotoh, N.6
Zang, C.7
Gregorski, J.8
Gieser, L.9
Peng, W.10
-
96
-
-
33750947173
-
Retinitis pigmentosa
-
Hartong, D. T., Berson, E. L. and Dryja, T. P. (2006). Retinitis pigmentosa. Lancet 368, 1795-1809.
-
(2006)
Lancet
, vol.368
, pp. 1795-1809
-
-
Hartong, D.T.1
Berson, E.L.2
Dryja, T.P.3
-
97
-
-
0032706124
-
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change
-
Hiriyanna, K. T., Bingham, E. L., Yashar, B. M., Ayyagari, R., Fishman, G., Small, K. W., Weinberg, D. V., Weleber, R. G., Lewis, R. A., Andreasson, S. et al. (1999). Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. Hum. Mutat. 14, 423-427.
-
(1999)
Hum. Mutat.
, vol.14
, pp. 423-427
-
-
Hiriyanna, K.T.1
Bingham, E.L.2
Yashar, B.M.3
Ayyagari, R.4
Fishman, G.5
Small, K.W.6
Weinberg, D.V.7
Weleber, R.G.8
Lewis, R.A.9
Andreasson, S.10
-
98
-
-
0034724168
-
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
-
99
-
-
0038485864
-
RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia
-
Hong, D. H., Pawlyk, B., Sokolov, M., Strissel, K. J., Yang, J., Tulloch, B., Wright, A. F., Arshavsky, V. Y. and Li, T. (2003). RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest. Ophthalmol. Vis. Sci. 44, 2413-2421.
-
(2003)
Invest. Ophthalmol. Vis. Sci.
, vol.44
, pp. 2413-2421
-
-
Hong, D.H.1
Pawlyk, B.2
Sokolov, M.3
Strissel, K.J.4
Yang, J.5
Tulloch, B.6
Wright, A.F.7
Arshavsky, V.Y.8
Li, T.9
-
100
-
-
13944271325
-
A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo
-
Hong, D. H., Pawlyk, B. S., Adamian, M., Sandberg, M. A. and Li, T. (2005). A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo. Invest. Ophthalmol. Vis. Sci. 46, 435-441.
-
(2005)
Invest. Ophthalmol. Vis. Sci.
, vol.46
, pp. 435-441
-
-
Hong, D.H.1
Pawlyk, B.S.2
Adamian, M.3
Sandberg, M.A.4
Li, T.5
-
101
-
-
84878826576
-
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
-
102
-
-
84867907906
-
RPGR-associated retinal degeneration in human X-linked RP and a murine model
-
Huang, W. C., Wright, A. F., Roman, A. J., Cideciyan, A. V., Manson, F. D., Gewaily, D. Y., Schwartz, S. B., Sadigh, S., Limberis, M. P., Bell, P., et al. (2012). RPGR-associated retinal degeneration in human X-linked RP and a murine model. Invest. Ophthalmol. Vis. Sci. 53, 5594-5608.
-
(2012)
Invest. Ophthalmol. Vis. Sci.
, vol.53
, pp. 5594-5608
-
-
Huang, W.C.1
Wright, A.F.2
Roman, A.J.3
Cideciyan, A.V.4
Manson, F.D.5
Gewaily, D.Y.6
Schwartz, S.B.7
Sadigh, S.8
Limberis, M.P.9
Bell, P.10
-
103
-
-
84878934289
-
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
-
104
-
-
0031045876
-
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
-
Humphries, M. M., Rancourt, D., Farrar, G. J., Kenna, P., Hazel, M., Bush, R. A., Sieving, P. A., Sheils, D. M., McNally, N., Creighton, P. et al. (1997). Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat. Genet. 15, 216-219.
-
(1997)
Nat. Genet.
, vol.15
, pp. 216-219
-
-
Humphries, M.M.1
Rancourt, D.2
Farrar, G.J.3
Kenna, P.4
Hazel, M.5
Bush, R.A.6
Sieving, P.A.7
Sheils, D.M.8
McNally, N.9
Creighton, P.10
-
105
-
-
19944428767
-
Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1
-
Hüttl, S., Michalakis, S., Seeliger, M., Luo, D. G., Acar, N., Geiger, H., Hudl, K., Mader, R., Haverkamp, S., Moser, M. et al. (2005). Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1. J. Neurosci. 25, 130-138.
-
(2005)
J. Neurosci.
, vol.25
, pp. 130-138
-
-
Hüttl, S.1
Michalakis, S.2
Seeliger, M.3
Luo, D.G.4
Acar, N.5
Geiger, H.6
Hudl, K.7
Mader, R.8
Haverkamp, S.9
Moser, M.10
-
106
-
-
70349327681
-
Directed differentiation of human embryonic stem cells into functional retinal pigment epithelium cells
-
Idelson, M., Alper, R., Obolensky, A., Ben-Shushan, E., Hemo, I., Yachimovich-Cohen, N., Khaner, H., Smith, Y., Wiser, O., Gropp, M. et al. (2009). Directed differentiation of human embryonic stem cells into functional retinal pigment epithelium cells. Cell Stem Cell 5, 396-408.
-
(2009)
Cell Stem Cell
, vol.5
, pp. 396-408
-
-
Idelson, M.1
Alper, R.2
Obolensky, A.3
Ben-Shushan, E.4
Hemo, I.5
Yachimovich-Cohen, N.6
Khaner, H.7
Smith, Y.8
Wiser, O.9
Gropp, M.10
-
107
-
-
0033978890
-
Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene
-
Ikeda, S., Shiva, N., Ikeda, A., Smith, R. S., Nusinowitz, S., Yan, G., Lin, T. R., Chu, S., Heckenlively, J. R., North, M. A. et al. (2000). Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. Hum. Mol. Genet. 9, 155-163.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 155-163
-
-
Ikeda, S.1
Shiva, N.2
Ikeda, A.3
Smith, R.S.4
Nusinowitz, S.5
Yan, G.6
Lin, T.R.7
Chu, S.8
Heckenlively, J.R.9
North, M.A.10
-
108
-
-
4544267698
-
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration
-
Jacobson, S. G., Sumaroka, A., Aleman, T. S., Cideciyan, A. V., Schwartz, S. B., Roman, A. J., McInnes, R. R., Sheffield, V. C., Stone, E. M., Swaroop, A. et al. (2004). Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum. Mol. Genet. 13, 1893-1902.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1893-1902
-
-
Jacobson, S.G.1
Sumaroka, A.2
Aleman, T.S.3
Cideciyan, A.V.4
Schwartz, S.B.5
Roman, A.J.6
McInnes, R.R.7
Sheffield, V.C.8
Stone, E.M.9
Swaroop, A.10
-
109
-
-
33747047272
-
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
-
Jalkanen, R., Möntyjörvi, M., Tobias, R., Isosomppi, J., Sankila, E. M., Alitalo, T. and Bech-Hansen, N. T. (2006). X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J. Med. Genet. 43, 699-704.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 699-704
-
-
Jalkanen, R.1
Möntyjörvi, M.2
Tobias, R.3
Isosomppi, J.4
Sankila, E.M.5
Alitalo, T.6
Bech-Hansen, N.T.7
-
110
-
-
70350465108
-
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
-
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
-
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
-
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
-
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
-
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
-
116
-
-
20144374260
-
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: A model for macular degeneration
-
Karan, G., Lillo, C., Yang, Z., Cameron, D. J., Locke, K. G., Zhao, Y., Thirumalaichary, S., Li, C., Birch, D. G., Vollmer-Snarr, H. R. et al. (2005). Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration. Proc. Natl. Acad. Sci. USA 102, 4164-4169.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 4164-4169
-
-
Karan, G.1
Lillo, C.2
Yang, Z.3
Cameron, D.J.4
Locke, K.G.5
Zhao, Y.6
Thirumalaichary, S.7
Li, C.8
Birch, D.G.9
Vollmer-Snarr, H.R.10
-
117
-
-
0033822064
-
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
-
Katsanis, N., Beales, P. L., Woods, M. O., Lewis, R. A., Green, J. S., Parfrey, P. S., Ansley, S. J., Davidson, W. S. and Lupski, J. R. (2000). Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat. Genet. 26, 67-70.
-
(2000)
Nat. Genet.
, vol.26
, pp. 67-70
-
-
Katsanis, N.1
Beales, P.L.2
Woods, M.O.3
Lewis, R.A.4
Green, J.S.5
Parfrey, P.S.6
Ansley, S.J.7
Davidson, W.S.8
Lupski, J.R.9
-
118
-
-
0036301043
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
126
-
-
0033779099
-
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model
-
Kobayashi, A., Higashide, T., Hamasaki, D., Kubota, S., Sakuma, H., An, W., Fujimaki, T., McLaren, M. J., Weleber, R. G. and Inana, G. (2000). HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. Invest. Ophthalmol. Vis. Sci. 41, 3268-3277.
-
(2000)
Invest. Ophthalmol. Vis. Sci.
, vol.41
, pp. 3268-3277
-
-
Kobayashi, A.1
Higashide, T.2
Hamasaki, D.3
Kubota, S.4
Sakuma, H.5
An, W.6
Fujimaki, T.7
McLaren, M.J.8
Weleber, R.G.9
Inana, G.10
-
127
-
-
84908353007
-
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
-
-
73849091644
-
Molecular evolution of adeno-associated virus for enhanced glial gene delivery
-
Koerber, J. T., Klimczak, R., Jang, J. H., Dalkara, D., Flannery, J. G. and Schaffer, D. V. (2009). Molecular evolution of adeno-associated virus for enhanced glial gene delivery. Mol. Ther. 17, 2088-2095.
-
(2009)
Mol. Ther.
, vol.17
, pp. 2088-2095
-
-
Koerber, J.T.1
Klimczak, R.2
Jang, J.H.3
Dalkara, D.4
Flannery, J.G.5
Schaffer, D.V.6
-
129
-
-
0031803762
-
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
-
130
-
-
0036071242
-
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
-
Kohl, S., Baumann, B., Rosenberg, T., Kellner, U., Lorenz, B., Vadalà, M., Jacobson, S. G. and Wissinger, B. (2002). Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am. J. Hum. Genet. 71, 422-425.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 422-425
-
-
Kohl, S.1
Baumann, B.2
Rosenberg, T.3
Kellner, U.4
Lorenz, B.5
Vadalà, M.6
Jacobson, S.G.7
Wissinger, B.8
-
131
-
-
84898640526
-
Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial
-
Koilkonda, R. D., Yu, H., Chou, T. H., Feuer, W. J., Ruggeri, M., Porciatti, V., Tse, D., Hauswirth, W. W., Chiodo, V., Boye, S. L. et al. (2014). Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial. JAMA Ophthalmol. 132, 409-420.
-
(2014)
JAMA Ophthalmol.
, vol.132
, pp. 409-420
-
-
Koilkonda, R.D.1
Yu, H.2
Chou, T.H.3
Feuer, W.J.4
Ruggeri, M.5
Porciatti, V.6
Tse, D.7
Hauswirth, W.W.8
Chiodo, V.9
Boye, S.L.10
-
132
-
-
84887206739
-
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
-
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
-
134
-
-
52049107645
-
Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy
-
Kong, J., Kim, S. R., Binley, K., Pata, I., Doi, K., Mannik, J., Zernant-Rajang, J., Kan, O., Iqball, S., Naylor, S. et al. (2008). Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. Gene Ther. 15, 1311-1320.
-
(2008)
Gene Ther.
, vol.15
, pp. 1311-1320
-
-
Kong, J.1
Kim, S.R.2
Binley, K.3
Pata, I.4
Doi, K.5
Mannik, J.6
Zernant-Rajang, J.7
Kan, O.8
Iqball, S.9
Naylor, S.10
-
135
-
-
0029160032
-
A 240 kDa protein represents the complete beta subunit of the cyclic nucleotide-gated channel from rod photoreceptor
-
Körschen, H. G., Illing, M., Seifert, R., Sesti, F., Williams, A., Gotzes, S., Colville, C., Müller, F., Dosé, A., Godde, M. et al. (1995). A 240 kDa protein represents the complete beta subunit of the cyclic nucleotide-gated channel from rod photoreceptor. Neuron 15, 627-636.
-
(1995)
Neuron
, vol.15
, pp. 627-636
-
-
Körschen, H.G.1
Illing, M.2
Seifert, R.3
Sesti, F.4
Williams, A.5
Gotzes, S.6
Colville, C.7
Müller, F.8
Dosé, A.9
Godde, M.10
-
136
-
-
33746898592
-
RGS expression rate-limits recovery of rod photoresponses
-
Krispel, C. M., Chen, D., Melling, N., Chen, Y. J., Martemyanov, K. A., Quillinan, N., Arshavsky, V. Y., Wensel, T. G., Chen, C. K. and Burns, M. E. (2006). RGS expression rate-limits recovery of rod photoresponses. Neuron 51, 409-416.
-
(2006)
Neuron
, vol.51
, pp. 409-416
-
-
Krispel, C.M.1
Chen, D.2
Melling, N.3
Chen, Y.J.4
Martemyanov, K.A.5
Quillinan, N.6
Arshavsky, V.Y.7
Wensel, T.G.8
Chen, C.K.9
Burns, M.E.10
-
137
-
-
81255169334
-
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
-
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
-
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
-
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
-
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
-
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
-
143
-
-
84855992951
-
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
-
Le Quesne Stabej, P., Saihan, Z., Rangesh, N., Steele-Stallard, H. B., Ambrose, J., Coffey, A., Emmerson, J., Haralambous, E., Hughes, Y., Steel, K. P. et al. (2012). Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J. Med. Genet. 49, 27-36.
-
(2012)
J. Med. Genet.
, vol.49
, pp. 27-36
-
-
Le Quesne Stabej, P.1
Saihan, Z.2
Rangesh, N.3
Steele-Stallard, H.B.4
Ambrose, J.5
Coffey, A.6
Emmerson, J.7
Haralambous, E.8
Hughes, Y.9
Steel, K.P.10
-
144
-
-
41349103272
-
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
-
Leitch, C. C., Zaghloul, N. A., Davis, E. E., Stoetzel, C., Diaz-Font, A., Rix, S., Alfadhel, M., Lewis, R. A., Eyaid, W., Banin, E. et al. (2008). Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat. Genet. 40, 443-448.
-
(2008)
Nat. Genet.
, vol.40
, pp. 443-448
-
-
Leitch, C.C.1
Zaghloul, N.A.2
Davis, E.E.3
Stoetzel, C.4
Diaz-Font, A.5
Rix, S.6
Alfadhel, M.7
Lewis, R.A.8
Eyaid, W.9
Banin, E.10
-
145
-
-
0033582173
-
Morphological, physiological, and biochemical changes in rhodopsin knockout mice
-
Lem, J., Krasnoperova, N. V., Calvert, P. D., Kosaras, B., Cameron, D. A., Nicolò, M., Makino, C. L. and Sidman, R. L. (1999). Morphological, physiological, and biochemical changes in rhodopsin knockout mice. Proc. Natl. Acad. Sci. USA 96, 736-741.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 736-741
-
-
Lem, J.1
Krasnoperova, N.V.2
Calvert, P.D.3
Kosaras, B.4
Cameron, D.A.5
Nicolò, M.6
Makino, C.L.7
Sidman, R.L.8
-
146
-
-
0034327412
-
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
-
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
-
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
-
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
-
150
-
-
84881477796
-
Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus
-
Lopes, V. S., Boye, S. E., Louie, C. M., Boye, S., Dyka, F., Chiodo, V., Fofo, H., Hauswirth, W. W. and Williams, D. S. (2013). Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus. Gene Ther. 20, 824-833.
-
(2013)
Gene Ther.
, vol.20
, pp. 824-833
-
-
Lopes, V.S.1
Boye, S.E.2
Louie, C.M.3
Boye, S.4
Dyka, F.5
Chiodo, V.6
Fofo, H.7
Hauswirth, W.W.8
Williams, D.S.9
-
151
-
-
70349873363
-
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
-
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
-
153
-
-
33750732308
-
Human embryonic stem cell-derived cells rescue visual function in dystrophic RCS rats
-
Lund, R. D., Wang, S., Klimanskaya, I., Holmes, T., Ramos-Kelsey, R., Lu, B., Girman, S., Bischoff, N., Sauvé, Y. and Lanza, R. (2006). Human embryonic stem cell-derived cells rescue visual function in dystrophic RCS rats. Cloning Stem Cells 8, 189-199.
-
(2006)
Cloning Stem Cells
, vol.8
, pp. 189-199
-
-
Lund, R.D.1
Wang, S.2
Klimanskaya, I.3
Holmes, T.4
Ramos-Kelsey, R.5
Lu, B.6
Girman, S.7
Bischoff, N.8
Sauvé, Y.9
Lanza, R.10
-
154
-
-
84895799338
-
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
-
155
-
-
33750861299
-
Retinal repair by transplantation of photoreceptor precursors
-
MacLaren, R. E., Pearson, R. A., MacNeil, A., Douglas, R. H., Salt, T. E., Akimoto, M., Swaroop, A., Sowden, J. C. and Ali, R. R. (2006). Retinal repair by transplantation of photoreceptor precursors. Nature 444, 203-207.
-
(2006)
Nature
, vol.444
, pp. 203-207
-
-
MacLaren, R.E.1
Pearson, R.A.2
MacNeil, A.3
Douglas, R.H.4
Salt, T.E.5
Akimoto, M.6
Swaroop, A.7
Sowden, J.C.8
Ali, R.R.9
-
156
-
-
84897051037
-
Retinal gene therapy in patients with choroideremia: Initial findings from a phase 1/2 clinical trial
-
MacLaren, R. E., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Seymour, L., Clark, K. R., During, M. J., Cremers, F. P., Black, G. C. et al. (2014). Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet 383, 1129-1137.
-
(2014)
Lancet
, vol.383
, pp. 1129-1137
-
-
MacLaren, R.E.1
Groppe, M.2
Barnard, A.R.3
Cottriall, C.L.4
Tolmachova, T.5
Seymour, L.6
Clark, K.R.7
During, M.J.8
Cremers, F.P.9
Black, G.C.10
-
157
-
-
44249085878
-
Safety and efficacy of gene transfer for Leber's congenital amaurosis
-
Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Jr, Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M. et al. (2008). Safety and efficacy of gene transfer for Leber's congenital amaurosis. N. Engl. J. Med. 358, 2240-2248.
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 2240-2248
-
-
Maguire, A.M.1
Simonelli, F.2
Pierce, E.A.3
Pugh, E.N.4
Mingozzi, F.5
Bennicelli, J.6
Banfi, S.7
Marshall, K.A.8
Testa, F.9
Surace, E.M.10
-
158
-
-
27544503765
-
Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina
-
Mansergh, F., Orton, N. C., Vessey, J. P., Lalonde, M. R., Stell, W. K., Tremblay, F., Barnes, S., Rancourt, D. E. and Bech-Hansen, N. T. (2005). Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Hum. Mol. Genet. 14, 3035-3046.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3035-3046
-
-
Mansergh, F.1
Orton, N.C.2
Vessey, J.P.3
Lalonde, M.R.4
Stell, W.K.5
Tremblay, F.6
Barnes, S.7
Rancourt, D.E.8
Bech-Hansen, N.T.9
-
159
-
-
0347089037
-
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
-
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
-
161
-
-
59649128407
-
Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4
-
Mazelova, J., Astuto-Gribble, L., Inoue, H., Tam, B. M., Schonteich, E., Prekeris, R., Moritz, O. L., Randazzo, P. A. and Deretic, D. (2009). Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4. EMBO J. 28, 183-192.
-
(2009)
EMBO J.
, vol.28
, pp. 183-192
-
-
Mazelova, J.1
Astuto-Gribble, L.2
Inoue, H.3
Tam, B.M.4
Schonteich, E.5
Prekeris, R.6
Moritz, O.L.7
Randazzo, P.A.8
Deretic, D.9
-
162
-
-
0027270053
-
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
-
163
-
-
0035734382
-
Nrl is required for rod photoreceptor development
-
Mears, A. J., Kondo, M., Swain, P. K., Takada, Y., Bush, R. A., Saunders, T. L., Sieving, P. A. and Swaroop, A. (2001). Nrl is required for rod photoreceptor development. Nat. Genet. 29, 447-452.
-
(2001)
Nat. Genet.
, vol.29
, pp. 447-452
-
-
Mears, A.J.1
Kondo, M.2
Swain, P.K.3
Takada, Y.4
Bush, R.A.5
Saunders, T.L.6
Sieving, P.A.7
Swaroop, A.8
-
164
-
-
0035859947
-
Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors
-
Mendez, A., Burns, M. E., Sokal, I., Dizhoor, A. M., Baehr, W., Palczewski, K., Baylor, D. A. and Chen, J. (2001). Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors. Proc. Natl. Acad. Sci. USA 98, 9948-9953.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 9948-9953
-
-
Mendez, A.1
Burns, M.E.2
Sokal, I.3
Dizhoor, A.M.4
Baehr, W.5
Palczewski, K.6
Baylor, D.A.7
Chen, J.8
-
165
-
-
84855926075
-
Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia
-
Michalakis, S., Mühlfriedel, R., Tanimoto, N., Krishnamoorthy, V., Koch, S., Fischer, M. D., Becirovic, E., Bai, L., Huber, G., Beck, S. C. et al. (2012). Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia. Adv. Exp. Med. Biol. 723, 183-189.
-
(2012)
Adv. Exp. Med. Biol.
, vol.723
, pp. 183-189
-
-
Michalakis, S.1
Mühlfriedel, R.2
Tanimoto, N.3
Krishnamoorthy, V.4
Koch, S.5
Fischer, M.D.6
Becirovic, E.7
Bai, L.8
Huber, G.9
Beck, S.C.10
-
166
-
-
18244385003
-
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration
-
Milam, A. H., Rose, L., Cideciyan, A. V., Barakat, M. R., Tang, W. X., Gupta, N., Aleman, T. S., Wright, A. F., Stone, E. M., Sheffield, V. C. et al. (2002). The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc. Natl. Acad. Sci. USA 99, 473-478.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 473-478
-
-
Milam, A.H.1
Rose, L.2
Cideciyan, A.V.3
Barakat, M.R.4
Tang, W.X.5
Gupta, N.6
Aleman, T.S.7
Wright, A.F.8
Stone, E.M.9
Sheffield, V.C.10
-
167
-
-
25144501446
-
Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis
-
Min, S. H., Molday, L. L., Seeliger, M. W., Dinculescu, A., Timmers, A. M., Janssen, A., Tonagel, F., Tanimoto, N., Weber, B. H., Molday, R. S. et al. (2005). Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Mol. Ther. 12, 644-651.
-
(2005)
Mol. Ther.
, vol.12
, pp. 644-651
-
-
Min, S.H.1
Molday, L.L.2
Seeliger, M.W.3
Dinculescu, A.4
Timmers, A.M.5
Janssen, A.6
Tonagel, F.7
Tanimoto, N.8
Weber, B.H.9
Molday, R.S.10
-
168
-
-
0034703019
-
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
-
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
-
170
-
-
33745765491
-
Phototransduction in a transgenic mouse model of Nougaret night blindness
-
Moussaif, M., Rubin, W. W., Kerov, V., Reh, R., Chen, D., Lem, J., Chen, C. K., Hurley, J. B., Burns, M. E. and Artemyev, N. O. (2006). Phototransduction in a transgenic mouse model of Nougaret night blindness. J. Neurosci. 26, 6863-6872.
-
(2006)
J. Neurosci.
, vol.26
, pp. 6863-6872
-
-
Moussaif, M.1
Rubin, W.W.2
Kerov, V.3
Reh, R.4
Chen, D.5
Lem, J.6
Chen, C.K.7
Hurley, J.B.8
Burns, M.E.9
Artemyev, N.O.10
-
171
-
-
0034967274
-
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
-
Mykytyn, K., Braun, T., Carmi, R., Haider, N. B., Searby, C. C., Shastri, M., Beck, G., Wright, A. F., Iannaccone, A., Elbedour, K. et al. (2001). Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat. Genet. 28, 188-191.
-
(2001)
Nat. Genet.
, vol.28
, pp. 188-191
-
-
Mykytyn, K.1
Braun, T.2
Carmi, R.3
Haider, N.B.4
Searby, C.C.5
Shastri, M.6
Beck, G.7
Wright, A.F.8
Iannaccone, A.9
Elbedour, K.10
-
172
-
-
2942625562
-
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
-
Mykytyn, K., Mullins, R. F., Andrews, M., Chiang, A. P., Swiderski, R. E., Yang, B., Braun, T., Casavant, T., Stone, E. M. and Sheffield, V. C. (2004). Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc. Natl. Acad. Sci. USA 101, 8664-8669.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 8664-8669
-
-
Mykytyn, K.1
Mullins, R.F.2
Andrews, M.3
Chiang, A.P.4
Swiderski, R.E.5
Yang, B.6
Braun, T.7
Casavant, T.8
Stone, E.M.9
Sheffield, V.C.10
-
173
-
-
34250012834
-
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
-
Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Perönen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C. et al. (2007). A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129, 1201-1213.
-
(2007)
Cell
, vol.129
, pp. 1201-1213
-
-
Nachury, M.V.1
Loktev, A.V.2
Zhang, Q.3
Westlake, C.J.4
Perönen, J.5
Merdes, A.6
Slusarski, D.C.7
Scheller, R.H.8
Bazan, J.F.9
Sheffield, V.C.10
-
174
-
-
84861133514
-
GNAT1 associated with autosomal recessive congenital stationary night blindness
-
Naeem, M. A., Chavali, V. R., Ali, S., Iqbal, M., Riazuddin, S., Khan, S. N., Husnain, T., Sieving, P. A., Ayyagari, R., Riazuddin, S. et al. (2012). GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest. Ophthalmol. Vis. Sci. 53, 1353-1361.
-
(2012)
Invest. Ophthalmol. Vis. Sci.
, vol.53
, pp. 1353-1361
-
-
Naeem, M.A.1
Chavali, V.R.2
Ali, S.3
Iqbal, M.4
Riazuddin, S.5
Khan, S.N.6
Husnain, T.7
Sieving, P.A.8
Ayyagari, R.9
Riazuddin, S.10
-
175
-
-
6344250884
-
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X)
-
Nakamura, Y., Hayashi, T., Kozaki, K., Kubo, A., Omoto, S., Watanabe, A., Toda, K., Takeuchi, T., Gekka, T. and Kitahara, K. (2004). Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). Acta Ophthalmol. Scand. 82, 616-622.
-
(2004)
Acta Ophthalmol. Scand.
, vol.82
, pp. 616-622
-
-
Nakamura, Y.1
Hayashi, T.2
Kozaki, K.3
Kubo, A.4
Omoto, S.5
Watanabe, A.6
Toda, K.7
Takeuchi, T.8
Gekka, T.9
Kitahara, K.10
-
176
-
-
84862526635
-
Self-formation of optic cups and storable stratified neural retina from human ESCs
-
Nakano, T., Ando, S., Takata, N., Kawada, M., Muguruma, K., Sekiguchi, K., Saito, K., Yonemura, S., Eiraku, M. and Sasai, Y. (2012). Self-formation of optic cups and storable stratified neural retina from human ESCs. Cell Stem Cell 10, 771-785.
-
(2012)
Cell Stem Cell
, vol.10
, pp. 771-785
-
-
Nakano, T.1
Ando, S.2
Takata, N.3
Kawada, M.4
Muguruma, K.5
Sekiguchi, K.6
Saito, K.7
Yonemura, S.8
Eiraku, M.9
Sasai, Y.10
-
177
-
-
0029970778
-
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
-
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
-
179
-
-
84871959992
-
Identification and analysis of inherited retinal disease genes
-
Neveling, K., den Hollander, A. I., Cremers, F. P. and Collin, R. W. (2012). Identification and analysis of inherited retinal disease genes. Methods Mol. Biol. 935, 3-23.
-
(2012)
Methods Mol. Biol.
, vol.935
, pp. 3-23
-
-
Neveling, K.1
Den Hollander, A.I.2
Cremers, F.P.3
Collin, R.W.4
-
180
-
-
0035168148
-
A thyroid hormone receptor that is required for the development of green cone photoreceptors
-
Ng, L., Hurley, J. B., Dierks, B., Srinivas, M., Saltó, C., Vennström, B., Reh, T. A. and Forrest, D. (2001). A thyroid hormone receptor that is required for the development of green cone photoreceptors. Nat. Genet. 27, 94-98.
-
(2001)
Nat. Genet.
, vol.27
, pp. 94-98
-
-
Ng, L.1
Hurley, J.B.2
Dierks, B.3
Srinivas, M.4
Saltó, C.5
Vennström, B.6
Reh, T.A.7
Forrest, D.8
-
181
-
-
79961231439
-
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
-
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
-
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
-
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
-
185
-
-
0346562868
-
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation
-
Nishiguchi, K. M., Sandberg, M. A., Kooijman, A. C., Martemyanov, K. A., Pott, J. W., Hagstrom, S. A., Arshavsky, V. Y., Berson, E. L. and Dryja, T. P. (2004b). Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature 427, 75-78.
-
(2004)
Nature
, vol.427
, pp. 75-78
-
-
Nishiguchi, K.M.1
Sandberg, M.A.2
Kooijman, A.C.3
Martemyanov, K.A.4
Pott, J.W.5
Hagstrom, S.A.6
Arshavsky, V.Y.7
Berson, E.L.8
Dryja, T.P.9
-
186
-
-
0035311942
-
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
-
Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E. et al. (2001). Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum. Mol. Genet. 10, 865-874.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 865-874
-
-
Nishimura, D.Y.1
Searby, C.C.2
Carmi, R.3
Elbedour, K.4
Van Maldergem, L.5
Fulton, A.B.6
Lam, B.L.7
Powell, B.R.8
Swiderski, R.E.9
Bugge, K.E.10
-
187
-
-
9344261783
-
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
-
Nishimura, D. Y., Fath, M., Mullins, R. F., Searby, C., Andrews, M., Davis, R., Andorf, J. L., Mykytyn, K., Swiderski, R. E., Yang, B. et al. (2004). Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc. Natl. Acad. Sci. USA 101, 16588-16593.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 16588-16593
-
-
Nishimura, D.Y.1
Fath, M.2
Mullins, R.F.3
Searby, C.4
Andrews, M.5
Davis, R.6
Andorf, J.L.7
Mykytyn, K.8
Swiderski, R.E.9
Yang, B.10
-
189
-
-
33846815401
-
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
-
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
-
191
-
-
0026463972
-
Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa
-
Olsson, J. E., Gordon, J. W., Pawlyk, B. S., Roof, D., Hayes, A., Molday, R. S., Mukai, S., Cowley, G. S., Berson, E. L. and Dryja, T. P. (1992). Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron 9, 815-830.
-
(1992)
Neuron
, vol.9
, pp. 815-830
-
-
Olsson, J.E.1
Gordon, J.W.2
Pawlyk, B.S.3
Roof, D.4
Hayes, A.5
Molday, R.S.6
Mukai, S.7
Cowley, G.S.8
Berson, E.L.9
Dryja, T.P.10
-
192
-
-
9644268242
-
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
-
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
-
194
-
-
84859612115
-
AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia
-
Pang, J. J., Deng, W. T., Dai, X., Lei, B., Everhart, D., Umino, Y., Li, J., Zhang, K., Mao, S., Boye, S. L. et al. (2012). AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. PLoS ONE 7, e35250.
-
(2012)
PLoS ONE
, vol.7
, pp. e35250
-
-
Pang, J.J.1
Deng, W.T.2
Dai, X.3
Lei, B.4
Everhart, D.5
Umino, Y.6
Li, J.7
Zhang, K.8
Mao, S.9
Boye, S.L.10
-
195
-
-
78649617599
-
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations
-
Papon, J. F., Perrault, I., Coste, A., Louis, B., Gérard, X., Hanein, S., Fares-Taie, L., Gerber, S., Defoort-Dhellemmes, S., Vojtek, A. M. et al. (2010). Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. J. Med. Genet. 47, 829-834.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 829-834
-
-
Papon, J.F.1
Perrault, I.2
Coste, A.3
Louis, B.4
Gérard, X.5
Hanein, S.6
Fares-Taie, L.7
Gerber, S.8
Defoort-Dhellemmes, S.9
Vojtek, A.M.10
-
196
-
-
67749111389
-
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
-
197
-
-
84859192198
-
Restoration of vision after transplantation of photoreceptors
-
Pearson, R. A., Barber, A. C., Rizzi, M., Hippert, C., Xue, T., West, E. L., Duran, Y., Smith, A. J., Chuang, J. Z., Azam, S. A. et al. (2012). Restoration of vision after transplantation of photoreceptors. Nature 485, 99-103.
-
(2012)
Nature
, vol.485
, pp. 99-103
-
-
Pearson, R.A.1
Barber, A.C.2
Rizzi, M.3
Hippert, C.4
Xue, T.5
West, E.L.6
Duran, Y.7
Smith, A.J.8
Chuang, J.Z.9
Azam, S.A.10
-
198
-
-
15544371180
-
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
-
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
-
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
-
201
-
-
33748423863
-
Congenital X-linked retinoschisis classification system
-
Prenner, J. L., Capone, A., Jr, Ciaccia, S., Takada, Y., Sieving, P. A. and Trese, M. T. (2006). Congenital X-linked retinoschisis classification system. Retina 26 Suppl., S61-S64.
-
(2006)
Retina
, vol.26
, pp. S61-S64
-
-
Prenner, J.L.1
Capone, A.2
Ciaccia, S.3
Takada, Y.4
Sieving, P.A.5
Trese, M.T.6
-
202
-
-
84925937223
-
Retinal transduction profiles by high-capacity viral vectors
-
Puppo, A., Cesi, G., Marrocco, E., Piccolo, P., Jacca, S., Shayakhmetov, D. M., Parks, R. J., Davidson, B. L., Colloca, S., Brunetti-Pierri, N. et al. (2014). Retinal transduction profiles by high-capacity viral vectors. Gene Ther. 21, 855-865.
-
(2014)
Gene Ther.
, vol.21
, pp. 855-865
-
-
Puppo, A.1
Cesi, G.2
Marrocco, E.3
Piccolo, P.4
Jacca, S.5
Shayakhmetov, D.M.6
Parks, R.J.7
Davidson, B.L.8
Colloca, S.9
Brunetti-Pierri, N.10
-
203
-
-
0037337634
-
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
-
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
-
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
-
206
-
-
84859731666
-
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis
-
Rachel, R. A., May-Simera, H. L., Veleri, S., Gotoh, N., Choi, B. Y., Murga-Zamalloa, C., McIntyre, J. C., Marek, J., Lopez, I., Hackett, A. N. et al. (2012b). Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J. Clin. Invest. 122, 1233-1245.
-
(2012)
J. Clin. Invest.
, vol.122
, pp. 1233-1245
-
-
Rachel, R.A.1
May-Simera, H.L.2
Veleri, S.3
Gotoh, N.4
Choi, B.Y.5
Murga-Zamalloa, C.6
McIntyre, J.C.7
Marek, J.8
Lopez, I.9
Hackett, A.N.10
-
207
-
-
4644256599
-
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
-
208
-
-
84878388504
-
Stem cells in retinal regeneration: Past, present and future
-
Ramsden, C. M., Powner, M. B., Carr, A. J., Smart, M. J., da Cruz, L. and Coffey, P. J. (2013). Stem cells in retinal regeneration: past, present and future. Development 140, 2576-2585.
-
(2013)
Development
, vol.140
, pp. 2576-2585
-
-
Ramsden, C.M.1
Powner, M.B.2
Carr, A.J.3
Smart, M.J.4
Da Cruz, L.5
Coffey, P.J.6
-
209
-
-
0028125886
-
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
-
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
-
211
-
-
17344366357
-
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
-
Redmond, T. M., Yu, S., Lee, E., Bok, D., Hamasaki, D., Chen, N., Goletz, P., Ma, J. X., Crouch, R. K. and Pfeifer, K. (1998). Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat. Genet. 20, 344-351.
-
(1998)
Nat. Genet.
, vol.20
, pp. 344-351
-
-
Redmond, T.M.1
Yu, S.2
Lee, E.3
Bok, D.4
Hamasaki, D.5
Chen, N.6
Goletz, P.7
Ma, J.X.8
Crouch, R.K.9
Pfeifer, K.10
-
212
-
-
0028945657
-
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
-
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
-
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
-
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
-
217
-
-
84893826395
-
OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness
-
Roger, J. E., Hiriyanna, A., Gotoh, N., Hao, H., Cheng, D. F., Ratnapriya, R., Kautzmann, M. A., Chang, B. and Swaroop, A. (2014). OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. J. Clin. Invest. 124, 631-643.
-
(2014)
J. Clin. Invest.
, vol.124
, pp. 631-643
-
-
Roger, J.E.1
Hiriyanna, A.2
Gotoh, N.3
Hao, H.4
Cheng, D.F.5
Ratnapriya, R.6
Kautzmann, M.A.7
Chang, B.8
Swaroop, A.9
-
218
-
-
84880292323
-
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy
-
Roosing, S., Rohrschneider, K., Beryozkin, A., Sharon, D., Weisschuh, N., Staller, J., Kohl, S., Zelinger, L., Peters, T. A., Neveling, K. et al.; European Retinal Disease Consortium (2013). Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 93, 110-117.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 110-117
-
-
Roosing, S.1
Rohrschneider, K.2
Beryozkin, A.3
Sharon, D.4
Weisschuh, N.5
Staller, J.6
Kohl, S.7
Zelinger, L.8
Peters, T.A.9
Neveling, K.10
-
219
-
-
9444251801
-
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations
-
Rosenberg, T., Baumann, B., Kohl, S., Zrenner, E., Jorgensen, A. L. and Wissinger, B. (2004). Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest. Ophthalmol. Vis. Sci. 45, 4256-4262.
-
(2004)
Invest. Ophthalmol. Vis. Sci.
, vol.45
, pp. 4256-4262
-
-
Rosenberg, T.1
Baumann, B.2
Kohl, S.3
Zrenner, E.4
Jorgensen, A.L.5
Wissinger, B.6
-
220
-
-
27144460671
-
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
-
Ross, A. J., May-Simera, H., Eichers, E. R., Kai, M., Hill, J., Jagger, D. J., Leitch, C. C., Chapple, J. P., Munro, P. M., Fisher, S. et al. (2005). Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat. Genet. 37, 1135-1140.
-
(2005)
Nat. Genet.
, vol.37
, pp. 1135-1140
-
-
Ross, A.J.1
May-Simera, H.2
Eichers, E.R.3
Kai, M.4
Hill, J.5
Jagger, D.J.6
Leitch, C.C.7
Chapple, J.P.8
Munro, P.M.9
Fisher, S.10
-
221
-
-
84864245923
-
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
-
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
-
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
-
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
-
225
-
-
37849031514
-
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal
-
Samardzija, M., von Lintig, J., Tanimoto, N., Oberhauser, V., Thiersch, M., Remé, C. E., Seeliger, M., Grimm, C. and Wenzel, A. (2008). R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. Hum. Mol. Genet. 17, 281-292.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 281-292
-
-
Samardzija, M.1
Von Lintig, J.2
Tanimoto, N.3
Oberhauser, V.4
Thiersch, M.5
Remé, C.E.6
Seeliger, M.7
Grimm, C.8
Wenzel, A.9
-
226
-
-
0015752167
-
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
-
227
-
-
84892531605
-
Rab8a and Rab8b are essential for several apical transport pathways but insufficient for ciliogenesis
-
Sato, T., Iwano, T., Kunii, M., Matsuda, S., Mizuguchi, R., Jung, Y., Hagiwara, H., Yoshihara, Y., Yuzaki, M., Harada, R. et al. (2014). Rab8a and Rab8b are essential for several apical transport pathways but insufficient for ciliogenesis. J. Cell Sci. 127, 422-431.
-
(2014)
J. Cell Sci.
, vol.127
, pp. 422-431
-
-
Sato, T.1
Iwano, T.2
Kunii, M.3
Matsuda, S.4
Mizuguchi, R.5
Jung, Y.6
Hagiwara, H.7
Yoshihara, Y.8
Yuzaki, M.9
Harada, R.10
-
228
-
-
0030771360
-
Positional cloning of the gene associated with X-linked juvenile retinoschisis
-
Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B. and Weber, B. H. (1997). Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat. Genet. 17, 164-170.
-
(1997)
Nat. Genet.
, vol.17
, pp. 164-170
-
-
Sauer, C.G.1
Gehrig, A.2
Warneke-Wittstock, R.3
Marquardt, A.4
Ewing, C.C.5
Gibson, A.6
Lorenz, B.7
Jurklies, B.8
Weber, B.H.9
-
229
-
-
33745230448
-
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
-
Sayer, J. A., Otto, E. A., O'Toole, J. F., Nurnberg, G., Kennedy, M. A., Becker, C., Hennies, H. C., Helou, J., Attanasio, M., Fausett, B. V. et al. (2006). The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38, 674-681.
-
(2006)
Nat. Genet.
, vol.38
, pp. 674-681
-
-
Sayer, J.A.1
Otto, E.A.2
O'Toole, J.F.3
Nurnberg, G.4
Kennedy, M.A.5
Becker, C.6
Hennies, H.C.7
Helou, J.8
Attanasio, M.9
Fausett, B.V.10
-
230
-
-
0038335879
-
Long-term evaluation of retinal function in Prph2Rd2/Rd2 mice following AAV-mediated gene replacement therapy
-
Schlichtenbrede, F. C., da Cruz, L., Stephens, C., Smith, A. J., Georgiadis, A., Thrasher, A. J., Bainbridge, J. W., Seeliger, M. W. and Ali, R. R. (2003). Long-term evaluation of retinal function in Prph2Rd2/Rd2 mice following AAV-mediated gene replacement therapy. J. Gene Med. 5, 757-764.
-
(2003)
J. Gene Med.
, vol.5
, pp. 757-764
-
-
Schlichtenbrede, F.C.1
Da Cruz, L.2
Stephens, C.3
Smith, A.J.4
Georgiadis, A.5
Thrasher, A.J.6
Bainbridge, J.W.7
Seeliger, M.W.8
Ali, R.R.9
-
231
-
-
33644552728
-
CSPalpha-deficiency causes massive and rapid photoreceptor degeneration
-
Schmitz, F., Tabares, L., Khimich, D., Strenzke, N., de la Villa-Polo, P., Castellano-M͡oz, M., Bulankina, A., Moser, T., Fernández-Chacón, R. and Südhof, T. C. (2006). CSPalpha-deficiency causes massive and rapid photoreceptor degeneration. Proc. Natl. Acad. Sci. USA 103, 2926-2931.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 2926-2931
-
-
Schmitz, F.1
Tabares, L.2
Khimich, D.3
Strenzke, N.4
De La Villa-Polo, P.5
Castellano-M͡oz, M.6
Bulankina, A.7
Moser, T.8
Fernández-Chacón, R.9
Südhof, T.C.10
-
232
-
-
0037122458
-
RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone
-
Schoch, S., Castillo, P. E., Jo, T., Mukherjee, K., Geppert, M., Wang, Y., Schmitz, F., Malenka, R. C. and Südhof, T. C. (2002). RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone. Nature 415, 321-326.
-
(2002)
Nature
, vol.415
, pp. 321-326
-
-
Schoch, S.1
Castillo, P.E.2
Jo, T.3
Mukherjee, K.4
Geppert, M.5
Wang, Y.6
Schmitz, F.7
Malenka, R.C.8
Südhof, T.C.9
-
233
-
-
84857643783
-
Embryonic stem cell trials for macular degeneration: A preliminary report
-
Schwartz, S. D., Hubschman, J. P., Heilwell, G., Franco-Cardenas, V., Pan, C. K., Ostrick, R. M., Mickunas, E., Gay, R., Klimanskaya, I. and Lanza, R. (2012). Embryonic stem cell trials for macular degeneration: a preliminary report. Lancet 379, 713-720.
-
(2012)
Lancet
, vol.379
, pp. 713-720
-
-
Schwartz, S.D.1
Hubschman, J.P.2
Heilwell, G.3
Franco-Cardenas, V.4
Pan, C.K.5
Ostrick, R.M.6
Mickunas, E.7
Gay, R.8
Klimanskaya, I.9
Lanza, R.10
-
234
-
-
84923014395
-
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
-
235
-
-
76549121983
-
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
-
Seo, S., Baye, L. M., Schulz, N. P., Beck, J. S., Zhang, Q., Slusarski, D. C. and Sheffield, V. C. (2010). BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc. Natl. Acad. Sci. USA 107, 1488-1493.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 1488-1493
-
-
Seo, S.1
Baye, L.M.2
Schulz, N.P.3
Beck, J.S.4
Zhang, Q.5
Slusarski, D.C.6
Sheffield, V.C.7
-
236
-
-
42149164885
-
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia
-
Shah, A. S., Farmen, S. L., Moninger, T. O., Businga, T. R., Andrews, M. P., Bugge, K., Searby, C. C., Nishimura, D., Brogden, K. A., Kline, J. N. et al. (2008). Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc. Natl. Acad. Sci. USA 105, 3380-3385.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 3380-3385
-
-
Shah, A.S.1
Farmen, S.L.2
Moninger, T.O.3
Businga, T.R.4
Andrews, M.P.5
Bugge, K.6
Searby, C.C.7
Nishimura, D.8
Brogden, K.A.9
Kline, J.N.10
-
237
-
-
78650505099
-
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
-
238
-
-
84857408664
-
Protective gene expression changes elicited by an inherited defect in photoreceptor structure
-
Sharma, Y. V., Cojocaru, R. I., Ritter, L. M., Khattree, N., Brooks, M., Scott, A., Swaroop, A. and Goldberg, A. F. (2012). Protective gene expression changes elicited by an inherited defect in photoreceptor structure. PLoS ONE 7, e31371.
-
(2012)
PLoS ONE
, vol.7
, pp. e31371
-
-
Sharma, Y.V.1
Cojocaru, R.I.2
Ritter, L.M.3
Khattree, N.4
Brooks, M.5
Scott, A.6
Swaroop, A.7
Goldberg, A.F.8
-
239
-
-
0242522448
-
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
-
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
-
241
-
-
0028798659
-
Dark-light: Model for nightblindness from the human rhodopsin Gly-90 - >Asp mutation
-
Sieving, P. A., Richards, J. E., Naarendorp, F., Bingham, E. L., Scott, K. and Alpern, M. (1995). Dark-light: model for nightblindness from the human rhodopsin Gly-90 - >Asp mutation. Proc. Natl. Acad. Sci. USA 92, 880-884.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 880-884
-
-
Sieving, P.A.1
Richards, J.E.2
Naarendorp, F.3
Bingham, E.L.4
Scott, K.5
Alpern, M.6
-
242
-
-
0035425947
-
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
-
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
-
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
-
245
-
-
0033812186
-
Mutations in MKKS cause Bardet-Biedl syndrome
-
Slavotinek, A. M., Stone, E. M., Mykytyn, K., Heckenlively, J. R., Green, J. S., Heon, E., Musarella, M. A., Parfrey, P. S., Sheffield, V. C. and Biesecker, L. G. (2000). Mutations in MKKS cause Bardet-Biedl syndrome. Nat. Genet. 26, 15-16.
-
(2000)
Nat. Genet.
, vol.26
, pp. 15-16
-
-
Slavotinek, A.M.1
Stone, E.M.2
Mykytyn, K.3
Heckenlively, J.R.4
Green, J.S.5
Heon, E.6
Musarella, M.A.7
Parfrey, P.S.8
Sheffield, V.C.9
Biesecker, L.G.10
-
246
-
-
0032231603
-
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
-
Sohocki, M. M., Sullivan, L. S., Mintz-Hittner, H. A., Birch, D., Heckenlively, J. R., Freund, C. L., McInnes, R. R. and Daiger, S. P. (1998). A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am. J. Hum. Genet. 63, 1307-1315.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1307-1315
-
-
Sohocki, M.M.1
Sullivan, L.S.2
Mintz-Hittner, H.A.3
Birch, D.4
Heckenlively, J.R.5
Freund, C.L.6
McInnes, R.R.7
Daiger, S.P.8
-
247
-
-
16744367868
-
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
-
Sohocki, M. M., Perrault, I., Leroy, B. P., Payne, A. M., Dharmaraj, S., Bhattacharya, S. S., Kaplan, J., Maumenee, I. H., Koenekoop, R., Meire, F. M. et al. (2000). Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol. Genet. Metab. 70, 142-150.
-
(2000)
Mol. Genet. Metab.
, vol.70
, pp. 142-150
-
-
Sohocki, M.M.1
Perrault, I.2
Leroy, B.P.3
Payne, A.M.4
Dharmaraj, S.5
Bhattacharya, S.S.6
Kaplan, J.7
Maumenee, I.H.8
Koenekoop, R.9
Meire, F.M.10
-
248
-
-
17344366487
-
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
-
Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B. H., Wutz, K., Gutwillinger, N., Rüther, K., Drescher, B. et al. (1998). An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat. Genet. 19, 260-263.
-
(1998)
Nat. Genet.
, vol.19
, pp. 260-263
-
-
Strom, T.M.1
Nyakatura, G.2
Apfelstedt-Sylla, E.3
Hellebrand, H.4
Lorenz, B.5
Weber, B.H.6
Wutz, K.7
Gutwillinger, N.8
Rüther, K.9
Drescher, B.10
-
249
-
-
74349104948
-
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
-
250
-
-
0031447030
-
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
-
Swain, P. K., Chen, S., Wang, Q. L., Affatigato, L. M., Coats, C. L., Brady, K. D., Fishman, G. A., Jacobson, S. G., Swaroop, A., Stone, E. et al. (1997). Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19, 1329-1336.
-
(1997)
Neuron
, vol.19
, pp. 1329-1336
-
-
Swain, P.K.1
Chen, S.2
Wang, Q.L.3
Affatigato, L.M.4
Coats, C.L.5
Brady, K.D.6
Fishman, G.A.7
Jacobson, S.G.8
Swaroop, A.9
Stone, E.10
-
251
-
-
84880176751
-
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
-
252
-
-
0026543201
-
A conserved retina-specific gene encodes a basic motif/leucine zipper domain
-
Swaroop, A., Xu, J. Z., Pawar, H., Jackson, A., Skolnick, C. and Agarwal, N. (1992). A conserved retina-specific gene encodes a basic motif/leucine zipper domain. Proc. Natl. Acad. Sci. USA 89, 266-270.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 266-270
-
-
Swaroop, A.1
Xu, J.Z.2
Pawar, H.3
Jackson, A.4
Skolnick, C.5
Agarwal, N.6
-
253
-
-
0032929074
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
265
-
-
0035252760
-
In vivo studies of the gamma subunit of retinal cGMP-phophodiesterase with a substitution of tyrosine-84
-
Tsang, S. H., Yamashita, C. K., Doi, K., Salchow, D. J., Bouvier, N., Mendelsohn, M., Gouras, P., Farber, D. B. and Goff, S. P. (2001). In vivo studies of the gamma subunit of retinal cGMP-phophodiesterase with a substitution of tyrosine-84. Biochem. J. 353, 467-474.
-
(2001)
Biochem. J.
, vol.353
, pp. 467-474
-
-
Tsang, S.H.1
Yamashita, C.K.2
Doi, K.3
Salchow, D.J.4
Bouvier, N.5
Mendelsohn, M.6
Gouras, P.7
Farber, D.B.8
Goff, S.P.9
-
266
-
-
33847176595
-
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
-
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
-
268
-
-
84883332832
-
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa
-
Tucker, B. A., Mullins, R. F., Streb, L. M., Anfinson, K., Eyestone, M. E., Kaalberg, E., Riker, M. J., Drack, A. V., Braun, T. A. and Stone, E. M. (2013). Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa. eLife 2, e00824.
-
(2013)
eLife
, vol.2
, pp. e00824
-
-
Tucker, B.A.1
Mullins, R.F.2
Streb, L.M.3
Anfinson, K.4
Eyestone, M.E.5
Kaalberg, E.6
Riker, M.J.7
Drack, A.V.8
Braun, T.A.9
Stone, E.M.10
-
269
-
-
0028300856
-
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
-
270
-
-
33745225873
-
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
-
Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al-Gazali, L. et al.; International Joubert Syndrome Related Disorders Study Group (2006). Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat. Genet. 38, 623-625.
-
(2006)
Nat. Genet.
, vol.38
, pp. 623-625
-
-
Valente, E.M.1
Silhavy, J.L.2
Brancati, F.3
Barrano, G.4
Krishnaswami, S.R.5
Castori, M.6
Lancaster, M.A.7
Boltshauser, E.8
Boccone, L.9
Al-Gazali, L.10
-
271
-
-
0036537524
-
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
-
272
-
-
0034682551
-
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
-
Van Hooser, J. P., Aleman, T. S., He, Y. G., Cideciyan, A. V., Kuksa, V., Pittler, S. J., Stone, E. M., Jacobson, S. G. and Palczewski, K. (2000). Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc. Natl. Acad. Sci. USA 97, 8623-8628.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 8623-8628
-
-
Van Hooser, J.P.1
Aleman, T.S.2
He, Y.G.3
Cideciyan, A.V.4
Kuksa, V.5
Pittler, S.J.6
Stone, E.M.7
Jacobson, S.G.8
Palczewski, K.9
-
273
-
-
83155177072
-
Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkey
-
Vandenberghe, L. H., Bell, P., Maguire, A. M., Cearley, C. N., Xiao, R., Calcedo, R., Wang, L., Castle, M. J., Maguire, A. C., Grant, R. et al. (2011). Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkey. Sci. Transl. Med. 3, 88ra54.
-
(2011)
Sci. Transl. Med.
, vol.3
, pp. 88ra54
-
-
Vandenberghe, L.H.1
Bell, P.2
Maguire, A.M.3
Cearley, C.N.4
Xiao, R.5
Calcedo, R.6
Wang, L.7
Castle, M.J.8
Maguire, A.C.9
Grant, R.10
-
274
-
-
33750593371
-
Elovl4 5- bp-deletion knock-in mice develop progressive photoreceptor degeneration
-
Vasireddy, V., Jablonski, M. M., Mandal, M. N., Raz-Prag, D., Wang, X. F., Nizol, L., Iannaccone, A., Musch, D. C., Bush, R. A., Salem, N., Jr et al. (2006). Elovl4 5- bp-deletion knock-in mice develop progressive photoreceptor degeneration. Invest. Ophthalmol. Vis. Sci. 47, 4558-4568.
-
(2006)
Invest. Ophthalmol. Vis. Sci.
, vol.47
, pp. 4558-4568
-
-
Vasireddy, V.1
Jablonski, M.M.2
Mandal, M.N.3
Raz-Prag, D.4
Wang, X.F.5
Nizol, L.6
Iannaccone, A.7
Musch, D.C.8
Bush, R.A.9
Salem, N.10
-
275
-
-
0034425755
-
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
-
Vervoort, R., Lennon, A., Bird, A. C., Tulloch, B., Axton, R., Miano, M. G., Meindl, A., Meitinger, T., Ciccodicola, A. and Wright, A. F. (2000). Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat. Genet. 25, 462-466.
-
(2000)
Nat. Genet.
, vol.25
, pp. 462-466
-
-
Vervoort, R.1
Lennon, A.2
Bird, A.C.3
Tulloch, B.4
Axton, R.5
Miano, M.G.6
Meindl, A.7
Meitinger, T.8
Ciccodicola, A.9
Wright, A.F.10
-
276
-
-
34047265314
-
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
-
-
56349103166
-
Elucidating the phenomenon of HESC-derived RPE: Anatomy of cell genesis, expansion and retinal transplantation
-
Vugler, A., Carr, A. J., Lawrence, J., Chen, L. L., Burrell, K., Wright, A., Lundh, P., Semo, M., Ahmado, A., Gias, C. et al. (2008). Elucidating the phenomenon of HESC-derived RPE: anatomy of cell genesis, expansion and retinal transplantation. Exp. Neurol. 214, 347-361.
-
(2008)
Exp. Neurol.
, vol.214
, pp. 347-361
-
-
Vugler, A.1
Carr, A.J.2
Lawrence, J.3
Chen, L.L.4
Burrell, K.5
Wright, A.6
Lundh, P.7
Semo, M.8
Ahmado, A.9
Gias, C.10
-
278
-
-
84863330469
-
A nonsense mutation in S-antigen (p.Glu306∗) causes Oguchi disease
-
Waheed, N. K., Qavi, A. H., Malik, S. N., Maria, M., Riaz, M., Cremers, F. P., Azam, M. and Qamar, R. (2012). A nonsense mutation in S-antigen (p.Glu306∗) causes Oguchi disease. Mol. Vis. 18, 1253-1259.
-
(2012)
Mol. Vis.
, vol.18
, pp. 1253-1259
-
-
Waheed, N.K.1
Qavi, A.H.2
Malik, S.N.3
Maria, M.4
Riaz, M.5
Cremers, F.P.6
Azam, M.7
Qamar, R.8
-
279
-
-
0034733706
-
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
-
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
-
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
-
282
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome type 1B
-
Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D. et al. (1995). Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374, 60-61.
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
Guilford, P.4
Gibson, F.5
Walsh, J.6
Mburu, P.7
Varela, A.8
Levilliers, J.9
Weston, M.D.10
-
283
-
-
9244233852
-
Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia
-
Weil, D., Levy, G., Sahly, I., Levi-Acobas, F., Blanchard, S., El-Amraoui, A., Crozet, F., Philippe, H., Abitbol, M. and Petit, C. (1996). Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc. Natl. Acad. Sci. USA 93, 3232-3237.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 3232-3237
-
-
Weil, D.1
Levy, G.2
Sahly, I.3
Levi-Acobas, F.4
Blanchard, S.5
El-Amraoui, A.6
Crozet, F.7
Philippe, H.8
Abitbol, M.9
Petit, C.10
-
284
-
-
0035576022
-
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
-
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
-
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
-
287
-
-
84887473221
-
Ras pathway inhibition prevents neovascularization by repressing endothelial cell sprouting
-
Westenskow, P. D., Kurihara, T., Aguilar, E., Scheppke, E. L., Moreno, S. K., Wittgrove, C., Marchetti, V., Michael, I. P., Anand, S., Nagy, A. et al. (2013). Ras pathway inhibition prevents neovascularization by repressing endothelial cell sprouting. J. Clin. Invest. 123, 4900-4908.
-
(2013)
J. Clin. Invest.
, vol.123
, pp. 4900-4908
-
-
Westenskow, P.D.1
Kurihara, T.2
Aguilar, E.3
Scheppke, E.L.4
Moreno, S.K.5
Wittgrove, C.6
Marchetti, V.7
Michael, I.P.8
Anand, S.9
Nagy, A.10
-
288
-
-
4544264183
-
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome
-
Wright, A. F., Reddick, A. C., Schwartz, S. B., Ferguson, J. S., Aleman, T. S., Kellner, U., Jurklies, B., Schuster, A., Zrenner, E., Wissinger, B. et al. (2004). Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Hum. Mutat. 24, 439.
-
(2004)
Hum. Mutat.
, vol.24
, pp. 439
-
-
Wright, A.F.1
Reddick, A.C.2
Schwartz, S.B.3
Ferguson, J.S.4
Aleman, T.S.5
Kellner, U.6
Jurklies, B.7
Schuster, A.8
Zrenner, E.9
Wissinger, B.10
-
289
-
-
77949773491
-
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
-
290
-
-
33751110923
-
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy
-
Wycisk, K. A., Zeitz, C., Feil, S., Wittmer, M., Forster, U., Neidhardt, J., Wissinger, B., Zrenner, E., Wilke, R., Kohl, S. et al. (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am. J. Hum. Genet. 79, 973-977.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 973-977
-
-
Wycisk, K.A.1
Zeitz, C.2
Feil, S.3
Wittmer, M.4
Forster, U.5
Neidhardt, J.6
Wissinger, B.7
Zrenner, E.8
Wilke, R.9
Kohl, S.10
-
291
-
-
0030842611
-
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
-
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
-
293
-
-
33644822908
-
Effective gene therapy with nonintegrating lentiviral vectors
-
Yá̃ez-M͡oz, R. J., Balaggan, K. S., MacNeil, A., Howe, S. J., Schmidt, M., Smith, A. J., Buch, P., MacLaren, R. E., Anderson, P. N., Barker, S. E. et al. (2006). Effective gene therapy with nonintegrating lentiviral vectors. Nat. Med. 12, 348-353.
-
(2006)
Nat. Med.
, vol.12
, pp. 348-353
-
-
Yá̃ez-M͡oz, R.J.1
Balaggan, K.S.2
MacNeil, A.3
Howe, S.J.4
Schmidt, M.5
Smith, A.J.6
Buch, P.7
MacLaren, R.E.8
Anderson, P.N.9
Barker, S.E.10
-
294
-
-
84884289608
-
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
-
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
-
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
-
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
-
298
-
-
53149135064
-
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB
-
Zeitz, C., Gross, A. K., Leifert, D., Kloeckener-Gruissem, B., McAlear, S. D., Lemke, J., Neidhardt, J. and Berger, W. (2008). Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest. Ophthalmol. Vis. Sci. 49, 4105-4114.
-
(2008)
Invest. Ophthalmol. Vis. Sci.
, vol.49
, pp. 4105-4114
-
-
Zeitz, C.1
Gross, A.K.2
Leifert, D.3
Kloeckener-Gruissem, B.4
McAlear, S.D.5
Lemke, J.6
Neidhardt, J.7
Berger, W.8
-
299
-
-
4344674756
-
RS-1 gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis
-
Zeng, Y., Takada, Y., Kjellstrom, S., Hiriyanna, K., Tanikawa, A., Wawrousek, E., Smaoui, N., Caruso, R., Bush, R. A. and Sieving, P. A. (2004). RS-1 gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis. Invest. Ophthalmol. Vis. Sci. 45, 3279-3285.
-
(2004)
Invest. Ophthalmol. Vis. Sci.
, vol.45
, pp. 3279-3285
-
-
Zeng, Y.1
Takada, Y.2
Kjellstrom, S.3
Hiriyanna, K.4
Tanikawa, A.5
Wawrousek, E.6
Smaoui, N.7
Caruso, R.8
Bush, R.A.9
Sieving, P.A.10
-
300
-
-
0035168415
-
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
-
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
-
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
-
303
-
-
0034164531
-
Novel mutations of the RPGR gene in RP3 families
-
Zito, I., Gorin, M. B., Plant, C., Bird, A. C., Bhattacharya, S. S. and Hardcastle, A. J. (2000). Novel mutations of the RPGR gene in RP3 families. Hum. Mutat. 15, 386.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 386
-
-
Zito, I.1
Gorin, M.B.2
Plant, C.3
Bird, A.C.4
Bhattacharya, S.S.5
Hardcastle, A.J.6
|