Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies

Bcl-2 and the regulation of programmed cell death

Reed, J. (1994) · The Journal of Cell Biology · doi:10.1083/jcb.124.1.1 · Cited by 2,287 · see citing works

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435 · see citing works

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

Dryja, T. P., McGee, T. L., Reichel, E., Hahn, L. B., Cowley, G. S., Yandell, D. W., Sandberg, M. A., & Berson, E. L. (1990) · Nature · doi:10.1038/343364a0 · Cited by 1,072 · see citing works

Defective myosin VIIA gene responsible for Usher syndrome type IB

Well, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., et al. (1995) · Nature · doi:10.1038/374060a0 · Cited by 1,068 · see citing works

Crx, a Novel otx-like Homeobox Gene, Shows Photoreceptor-Specific Expression and Regulates Photoreceptor Differentiation

Furukawa, T., Morrow, E. M., & Cepko, C. L. (1997) · Cell · doi:10.1016/s0092-8674(00)80439-0 · Cited by 901 · see citing works

Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration

Allikmets, R. L., Shroyer, N. F., Singh, N., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A. P., Zabriskie, N. A., Li, Y., Hutchinson, A. A., et al. (1997) · Science · doi:10.1126/science.277.5333.1805 · Cited by 879 · see citing works

Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci

Kajiwara, K., Berson, E. L., & Dryja, T. P. (1994) · Science · doi:10.1126/science.8202715 · Cited by 774 · see citing works

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

Gu, S.-M., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-194 · Cited by 663 · see citing works

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

Weber, B. H. F., Vogt, G., Pruett, R. C., Stöhr, H., & Felbor, U. (1994) · Nature Genetics · doi:10.1038/ng1294-352 · Cited by 656 · see citing works

Apoptosis: Final common pathway of photoreceptor death in rd, rds, and mutant mice

Chang, G.-Q., Hao, Y., & Wong, F. (1993) · Neuron · doi:10.1016/0896-6273(93)90072-y · Cited by 650 · see citing works

Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa.

Portera‐Cailliau, C., Sung, C.-H., Nathans, J., & Adler, R. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.3.974 · Cited by 624 · see citing works

Mutations in RPE65 cause Leber's congenital amaurosis

Marlhens, F., Bareil, C., Griffoin, J.-M., Zrenner, E., Amalric, P., Eliaou, C., Liu, S.-Y., Harris, E., Redmond, T. M., Arnaud, B., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-139 · Cited by 606 · see citing works

Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene () Essential for Maintenance of the Photoreceptor

Freund, C. L., Gregory, C. Y., Furukawa, T., Papaioannou, M. G., Looser, J., Ploder, L., Bellingham, J., Ng, D., Herbrick, J.-A., Duncan, A. M. V., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80440-7 · Cited by 564 · see citing works

THE ROLE OF THE PIGMENT EPITHELIUM IN THE ETIOLOGY OF INHERITED RETINAL DYSTROPHY IN THE RAT

Bok, D., & Hall, M. O. (1971) · The Journal of Cell Biology · doi:10.1083/jcb.49.3.664 · Cited by 537 · see citing works

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., Creighton, P., Erven, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0297-216 · Cited by 529 · see citing works

Constitutively active mutants of rhodopsin

Robinson, P. R., Cohen, G. B., Zhukovsky, E. A., & Oprian, D. D. (1992) · Neuron · doi:10.1016/0896-6273(92)90034-b · Cited by 514 · see citing works

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., & Weber, B. H. F. (1997) · Nature Genetics · doi:10.1038/ng1097-164 · Cited by 497 · see citing works

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.

Sung, C.-H., Schneider, B., Agarwal, N. A., Papermaster, D. S., & Nathans, J. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.19.8840 · Cited by 492 · see citing works

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)

Meindl, A., Dry, K. L., Herrmann, K., Manson, F. D. C., Ciccodicola, A., Edgar, A. J., Carvalho, M. R. S., Achatz, H., Hellebrand, H., Lennon, A., et al. (1996) · Nature Genetics · doi:10.1038/ng0596-35 · Cited by 480 · see citing works

Histone acetylation: chromatin in action

Wade, P. A., Pruss, D., & Wolffe, A. P. (1997) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(97)01016-5 · Cited by 468 · see citing works

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Perrault, I., Rozet, J., Calvas, P., Gerber, S., Camuzat, A., Dollfus, H., Châtelin, S., Souied, E. H., Ghazi, I., Leowski, C., et al. (1996) · Nature Genetics · doi:10.1038/ng1296-461 · Cited by 443 · see citing works

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

Rosenfeld, P. J., Cowley, G. S., McGee, T. L., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1992) · Nature Genetics · doi:10.1038/ng0692-209 · Cited by 422 · see citing works

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

Farrar, G. J., Kenna, P. F., Jordan, S. A., Kumar‐Singh, R., Humphries, M. M., Sharp, E. M., Sheils, D. M., & Humphries, P. (1991) · Nature · doi:10.1038/354478a0 · Cited by 387 · see citing works

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

Dryja, T. P., Berson, E. L., Rao, V. R., & Oprian, D. D. (1993) · Nature Genetics · doi:10.1038/ng0793-280 · Cited by 340 · see citing works

Phototransduction mechanism in retinal rods and cones. The Friedenwald Lecture.

Yau, K. (1994) · PubMed · Cited by 330 · see citing works

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

Weleber, R. G. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110097033 · Cited by 330 · see citing works

Mutation of the gene encoding cellular retinaldehyde–binding protein in autosomal recessive retinitis pigmentosa

Maw, M. A., Kennedy, B. N., Knight, A., Bridges, R., Roth, K. E., Mani, E. J., Mukkadan, J. K., Nancarrow, D. J., Crabb, J. W., & Denton, M. J. (1997) · Nature Genetics · doi:10.1038/ng1097-198 · Cited by 327 · see citing works

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein

Travis, G. H., Sutcliffe, J. G., & Bok, D. (1991) · Neuron · doi:10.1016/0896-6273(91)90122-g · Cited by 325 · see citing works

A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

Fuchs, S., Nakazawa, M., Maw, M. A., Tamai, M., Oguchi, Y., & Gal, A. (1995) · Nature Genetics · doi:10.1038/ng0795-360 · Cited by 301 · see citing works

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

Yamamoto, S., Sippel, K. C., Berson, E. L., & Dryja, T. P. (1997) · Nature Genetics · doi:10.1038/ng0297-175 · Cited by 277 · see citing works

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., McGee, T. L., Berson, E. L., & Yau, K. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.22.10177 · Cited by 276 · see citing works

Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa

Petters, R. M., Alexander, C. A., Wells, K. D., Collins, E. B., Sommer, J. R., BLANTON, M. L., Rojas, G., Hao, Y., Flowers, W. L., Banin, E., et al. (1997) · Nature Biotechnology · doi:10.1038/nbt1097-965 · Cited by 265 · see citing works

Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies

Bascom, R. A., Manara, S., Collins, L., Molday, R. S., Kalnins, V. I., & Mclnnes, R. R. (1992) · Neuron · doi:10.1016/0896-6273(92)90137-3 · Cited by 257 · see citing works

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

Sun, H., & Nathans, J. (1997) · Nature Genetics · doi:10.1038/ng0997-15 · Cited by 251 · see citing works

The structure of rhodopsin and the rod outer segment disk membrane

Dratz, E. A., & Hargrave, P. A. (1983) · Trends in Biochemical Sciences · doi:10.1016/0968-0004(83)90235-9 · Cited by 249 · see citing works

Rod photoreceptor neurite sprouting in retinitis pigmentosa

Li, Z., Kljavin, I., & Milam, A. (1995) · Journal of Neuroscience · doi:10.1523/jneurosci.15-08-05429.1995 · Cited by 245 · see citing works

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

Gal, A., Orth, U., Baehr, W., SCHWINGER, E., & Rosenberg, T. (1994) · Nature Genetics · doi:10.1038/ng0594-64 · Cited by 245 · see citing works

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

Payne, A. M. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.2.273 · Cited by 234 · see citing works

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

Jacobson, S. G., Cideciyan, A. V., Regunath, G., Rodriguez, F. J., Vandenburgh, K., Sheffield, V. C., & Stone, E. M. (1995) · Nature Genetics · doi:10.1038/ng0995-27 · Cited by 218 · see citing works

Untitled work

(1978) · PubMed · Cited by 208 · see citing works

Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

Dryja, T. P., Hahn, L. B., Reboul, T., & Arnaud, B. (1996) · Nature Genetics · doi:10.1038/ng0796-358 · Cited by 199 · see citing works

Retinal Degeneration in Mice Lacking the γ Subunit of the Rod cGMP Phosphodiesterase

Tsang, S. H., Gouras, P., Yamashita, C. K., Kjeldbye, H. M., Fisher, J., Farber, D. B., & Goff, S. P. (1996) · Science · doi:10.1126/science.272.5264.1026 · Cited by 181 · see citing works

The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)

Azarian, S. M., & Travis, G. H. (1997) · FEBS Letters · doi:10.1016/s0014-5793(97)00517-6 · Cited by 170 · see citing works

p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins.

Rosa, J. L., Casaroli-Marano, R. P., Buckler, A., Vilaró, S., & Barbacid, M. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00801.x · Cited by 130 · see citing works

Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.

Li, T., Franson, W. K., Gordon, J. W., Berson, E. L., & Dryja, T. P. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.8.3551 · Cited by 129 · see citing works

Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

Gregory-Evans, K., Fryer, A. E., Inglehearn, C. F., Duvall-Young, J., Whittaker, J. L., Gregory, C. Y., Butler, R. K., Ebenezer, N. D., Hunt, D. M., & Bhattacharya, S. S. (1994) · Nature Genetics · doi:10.1038/ng0294-210 · Cited by 119 · see citing works

Rhodopsin mutations in inherited retinal dystrophies and dysfunctions

Gal, A., Apfelstedt-Sylla, E., Janecke, A., & Zrennert, E. (1997) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(96)00021-3 · Cited by 117 · see citing works

Control of substrate flow at a branch in the visual cycle

Saari, J. C., Bredberg, D. L., & Noy, N. (1994) · Biochemistry · doi:10.1021/bi00176a045 · Cited by 108 · see citing works

Chapter 10 Interactions of Rod Cell Proteins with the Disk Membrane: Influence of Light, Ionic Strength, and Nucleotides

Kühn, H. (1981) · Current topics in membranes and transport · doi:10.1016/s0070-2161(08)60501-8 · Cited by 106 · see citing works

From mice to men: the cyclic GMP phosphodiesterase gene in vision and disease. The Proctor Lecture.

Farber, D. B. (1995) · PubMed · Cited by 100 · see citing works

Missense rhodopsin mutation in a family with recessive RP

Kumaramanickavel, G., Maw, M., Denton, M. J., John, S., Srikumari, C. R. S., Orth, U., Oehlmann, R., & Gal, A. (1994) · Nature Genetics · doi:10.1038/ng0994-10 · Cited by 94 · see citing works

Synthetic phosphopeptide from rhodopsin sequence induces retinal arrestin binding to photoactivated unphosphorylated rhodopsin

Puig, J., Arendt, A., Tomson, F. L., ABDULAEVA, G. V., Miller, R., Hargrave, P. A., & McDowell, J. H. (1995) · FEBS Letters · doi:10.1016/0014-5793(95)00225-x · Cited by 66 · see citing works

RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.

Kemp, C. M., Jacobson, S. G., Cideciyan, A. V., KIMURA, A. E., Sheffield, V. C., & Stone, E. M. (1994) · PubMed · Cited by 63 · see citing works

Cell loss in retinal dystrophies by apoptosis--death by informed consent!

Gregory, C. Y., & Bird, A. C. (1995) · British Journal of Ophthalmology · doi:10.1136/bjo.79.2.186 · Cited by 38 · see citing works

A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa

Sakuma, H., Inana, G., Murakami, A., Yajima, T., Weleber, R. G., Murphey, W. H., Gass, J. D. M., Hotta, Y., Hayakawa, M., Fujiki, K., et al. (1995) · Genomics · doi:10.1006/geno.1995.1066 · Cited by 34 · see citing works

Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7

Sparkes, R. S., Heinzmann, C., Goldflam, S., Kojis, T., Saari, J. C., Mohandas, T. K., Klisak, I. J., Bateman, J. B., & Crabb, J. W. (1992) · Genomics · doi:10.1016/0888-7543(92)90406-i · Cited by 32 · see citing works

Capping of the barbed ends of actin filaments by a high-affinity profilin-actin complex

DiNubile, M. J., & Huang, S. C. (1997) · Cell Motility and the Cytoskeleton · doi:10.1002/(sici)1097-0169(1997)37:3 · Cited by 14 · see citing works

Chapter 13 Cyclic AMP: Enrichment in Retinal Cones

Farber, D. B. (1981) · Current topics in membranes and transport · doi:10.1016/s0070-2161(08)60504-3 · Cited by 2 · see citing works

An inventory of the human ABC proteins

Klein, I., Sarkadi, B., & Váradi, A. (1999) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/s0005-2736(99)00161-3 · Cited by 583 · see citing works

Impaired retinal function and vitamin A availability in mice lacking retinol‐binding protein

Quadro, L., Blaner, W. S., Salchow, D. J., Vogel, S., Piantedosi, R., Gouras, P., Freeman, S., Cosma, M. P., Colantuoni, V., & Gottesman, M. E. (1999) · The EMBO Journal · doi:10.1093/emboj/18.17.4633 · Cited by 506 · see citing works

Genetic disorders of vision revealed by a behavioral screen of 400 essential loci in zebrafish

Neuhauss, S. C. F., Biehlmaier, O., Seeliger, M. W., Das, T., Kohler, K., Harris, W. A., & Baier, H. (1999) · The Journal of Neuroscience · doi:10.1523/jneurosci.19-19-08603.1999 · Cited by 414 · see citing works

Confronting Complexity: the Interlink of Phototransduction and Retinoid Metabolism in the Vertebrate Retina

McBee, J. K., Palczewski, K., Baehr, W., & Pepperberg, D. R. (2001) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(01)00002-7 · Cited by 366 · see citing works

Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy

Ali, R. R., Sarra, G., Stephens, C., de Alwis, M., Bainbridge, J. W., Munro, P., Fauser, S., Reichel, M. B., Kinnon, C., Hunt, D. M., et al. (2000) · Nature Genetics · doi:10.1038/77068 · Cited by 302 · see citing works

Behavioral genetic approaches to visual system development and function in zebrafish

Neuhauss, S. C. F. (2002) · Journal of Neurobiology · doi:10.1002/neu.10165 · Cited by 235 · see citing works

Molecular Genetics of Human Retinal Disease

Rattner, A., Sun, H., & Nathans, J. (1999) · Annual Review of Genetics · doi:10.1146/annurev.genet.33.1.89 · Cited by 228 · see citing works

Leber Congenital Amaurosis

Perrault, I., Rozet, J., Gerber, S., Ghazi, I., Leowski, C., Ducroq, D., Souied, E. H., Dufier, J., Münnich, A., & Kaplan, J. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2906 · Cited by 173 · see citing works

Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration

Burnight, E. R., Gupta, M., Wiley, L. A., Anfinson, K. R., Tran, A. A., Triboulet, R., Hoffmann, J. M., Klaahsen, D., Andorf, J. L., Jiao, C., et al. (2017) · Molecular Therapy · doi:10.1016/j.ymthe.2017.05.015 · Cited by 144 · see citing works

AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa

Smith, A. J., Schlichtenbrede, F. C., Tschernutter, M., Bainbridge, J. W., Thrasher, A. J., & Ali, R. R. (2003) · Molecular Therapy · doi:10.1016/s1525-0016(03)00144-8 · Cited by 139 · see citing works

Understanding the physiological role of retinol-binding protein in vitamin A metabolism using transgenic and knockout mouse models

Quadro, L., Hamberger, L., Colantuoni, V., Gottesman, M. E., & Blaner, W. S. (2003) · Molecular Aspects of Medicine · doi:10.1016/s0098-2997(03)00038-4 · Cited by 127 · see citing works

Gene replacement therapy in the retinal degeneration slow (rds)mouse: the effect on retinal degeneration following partial transduction of the retina

Sarra, G. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.21.2353 · Cited by 127 · see citing works

Gγ-like (ggl) domains: new frontiers in g-protein signaling and β-propeller scaffolding22Abbreviations: DEP, dishevelled/EGL-10/pleckstrin-related domain; DH, dbl-homology domain; GAP, guanosine triphosphatase-activating protein; GEF, guanine nucleotide exchange factor; GGL, G-gamma-like; GIRK, G-protein-gated inwardly rectifying potassium channel; GPCR, G-protein-coupled receptor; G protein, guanine nucleotide binding protein; GTPase, guanosine triphosphatase; mAChR, muscarinic acetylcholine receptor; MAPK, mitogen-activated protein kinase; PDE, phosphodiesterase; PDZ, PSD-95/Discs-large/ZO-1 related domain; PH, pleckstrin-homology domain; PI3Kγ, gamma isoform of phosphoinositide 3-kinase; PLC-β, beta isoform of phospholipase C; PTB, phosphotyrosine-binding domain; RACK1, receptor for activated C kinase type-1; RBD, Ras-binding domain; RGS, regulators of G-protein signaling; and SAPK, stress-activated protein kinase.

Sondek, J., & Siderovski, D. P. (2001) · Biochemical Pharmacology · doi:10.1016/s0006-2952(01)00633-5 · Cited by 120 · see citing works

The ABCA subclass of mammalian transporters

Broccardo, C., Luciani, M., & Chimini, G. (1999) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/s0005-2736(99)00170-4 · Cited by 116 · see citing works

Mutant rhodopsin transgene expression on a null background.

Frederick, J. M., Krasnoperova, N. V., Hoffmann, K., Church-Kopish, J., Rüther, K., Howes, K. A., Lem, J., & Baehr, W. (2001) · PubMed · Cited by 109 · see citing works

Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina

Wang, T., Steel, G., Milam, A. H., & Valle, D. L. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.3.1224 · Cited by 91 · see citing works

Q344ter Mutation Causes Mislocalization of Rhodopsin Molecules That Are Catalytically Active: A Mouse Model of Q344ter-Induced Retinal Degeneration

Concepcion, F. A., & Chen, J. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010904 · Cited by 83 · see citing works

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

Reymond, A., Volorio, S., Merla, G., Al-Maghtheh, M., Zuffardi, O., Bulfone, A., Ballabio, A., & Zollo, M. (1999) · Oncogene · doi:10.1038/sj.onc.1203140 · Cited by 82 · see citing works

Recent Advances in Our Understanding of Rhodopsin and Phototransduction

Pepe, I. M. (2001) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(01)00013-1 · Cited by 77 · see citing works

Functional and morphological evaluation of blue light-emitting diode-induced retinal degeneration in mice

Kim, G. H., Kim, H., Paik, S.-S., Jung, S. W., Kang, S., & Kim, I. (2016) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-015-3258-x · Cited by 67 · see citing works

Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice

Morrow, E. M., Furukawa, T., Raviola, E., & Cepko, C. L. (2005) · BMC Neuroscience · doi:10.1186/1471-2202-6-5 · Cited by 64 · see citing works

Characterization of Human Retinal Fascin Gene (FSCN2) at 17q25: Close Physical Linkage of Fascin and Cytoplasmic Actin Genes

Tubb, B. E., Bardien, S., Kashork, C. D., Shaffer, L. G., Ramagli, L. S., Xu, J., Siciliano, M. J., & Bryan, J. (2000) · Genomics · doi:10.1006/geno.2000.6156 · Cited by 61 · see citing works

P2X7 receptor-mRNA and -protein in the mouse retina; changes during retinal degeneration in BALBCrds mice

Franke, H., Klimke, K., Brinckmann, U., Grosche, J., Francke, M., Sperlágh, B., Reichenbach, A., Liebert, U. G., & Illés, P. (2005) · Neurochemistry International · doi:10.1016/j.neuint.2005.04.022 · Cited by 58 · see citing works

Gene networks: Dissecting pathways in retinal development and disease

Gregory, C. Y., Wallace, V. A., & Gregory-Evans, K. (2012) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2012.10.003 · Cited by 54 · see citing works

Advances in visual prostheses: engineering and biological challenges

Borda, E., & Ghezzi, D. (2022) · Progress in Biomedical Engineering · doi:10.1088/2516-1091/ac812c · Cited by 44 · see citing works

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

Mordes, D. A., Yuan, L., Xu, L., Kawada, M., Molday, R. S., & Wu, J. Y. (2007) · Neurobiology of Disease · doi:10.1016/j.nbd.2006.08.026 · Cited by 43 · see citing works

Differential occurrence of mutations causative of eye diseases in the Chinese population

Pang, C. P., & Lam, D. S. C. (2002) · Human Mutation · doi:10.1002/humu.10053 · Cited by 37 · see citing works

Synergistic effect of Bcl-2 and BAG-1 on the prevention of photoreceptor cell death.

Eversole-Cire, P., Fa, C., Simon, M. I., Takayama, S.-I. J., Reed, J., & Chen, J. (2000) · PubMed · Cited by 38 · see citing works

Dietary docosahexaenoic acid protects against N-methyl-N-nitrosourea-induced retinal degeneration in rats

Moriguchi, K., Yuri, T., Yoshizawa, K., Kiuchi, K., Takada, H., Inoue, Y., Hada, T., Matsumura, M., & Tsubura, A. (2003) · Experimental Eye Research · doi:10.1016/s0014-4835(03)00114-3 · Cited by 36 · see citing works

Retinal Degeneration Following Failed Photoreceptor Maturation in 5A11/Basigin Null Mice

Ochrietor, J. D., Moroz, T. M., Kadomatsu, K., Muramatsu, T., & Linser, P. J. (2001) · Experimental Eye Research · doi:10.1006/exer.2000.0974 · Cited by 36 · see citing works

Double Cone Dystrophy and RPE Degeneration in the Retina of the Zebrafish gnn Mutant

Biehlmaier, O., Neuhauss, S. C. F., & Köhler, K. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0363 · Cited by 28 · see citing works

Increased Expression of Osteopontin in Retinal Degeneration Induced by Blue Light-Emitting Diode Exposure in Mice

Chang, S. W., Kim, H., Kim, G. H., Park, S. J., & Kim, I. (2016) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2016.00058 · Cited by 26 · see citing works

The possibility of gene therapy for the treatment of choroidal neovascularization

Murata, T. (2000) · Ophthalmology · doi:10.1016/s0161-6420(00)00147-0 · Cited by 26 · see citing works

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

(2009) · Europe PMC (PubMed Central) · Cited by 24 · see citing works

Retinal function and morphology in two zebrafish models of oculo‐renal syndromes

Bahadori, R., Huber, M., Rinner, O., Seeliger, M. W., Geiger‐Rudolph, S., Geisler, R., & Neuhauss, S. C. F. (2003) · European Journal of Neuroscience · doi:10.1046/j.1460-9568.2003.02863.x · Cited by 24 · see citing works

Molecular genetics of Usher syndrome

Eudy, J. D., & Sümegi, J. (1999) · Cellular and Molecular Life Sciences · doi:10.1007/s000180050427 · Cited by 24 · see citing works

Morphological and functional evaluation of an animal model for the retinal degeneration induced byN-methyl-N-nitrosourea

Jeong, E., Paik, S.-S., Jung, S. W., Chun, M., & Kim, I. (2011) · Anatomy & Cell Biology · doi:10.5115/acb.2011.44.4.314 · Cited by 22 · see citing works

PHR1 Encodes an Abundant, Pleckstrin Homology Domain-containing Integral Membrane Protein in the Photoreceptor Outer Segments

Xu, S., Ladak, R., Swanson, D. A., Soltyk, A. M., Sun, H., Ploder, L., Vidgen, D., Duncan, A. M. V., Garami, E., Valle, D. L., et al. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.50.35676 · Cited by 21 · see citing works

Amelioration of Mouse Retinal Degeneration After Blue LED Exposure by Glycyrrhizic Acid-Mediated Inhibition of Inflammation

Kim, G. H., Paik, S.-S., Park, Y. S., Kim, H. G., & Kim, I. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00319 · Cited by 21 · see citing works

Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998^999ins4

Bareil, C., Hamel, C., Pallarès-Ruiz, N., Arnaud, B., DEMAILLE, J. G., & Claustres, M. (1999) · Ophthalmic Genetics · doi:10.1076/opge.20.3.173.2282 · Cited by 14 · see citing works

Bax is not the heterodimerization partner necessary for sustained anti-photoreceptor-cell-death activity of Bcl-2.

Eversole-Cire, P., Chen, J., & Simon, M. I. (2002) · PubMed · Cited by 12 · see citing works

Gene editing technology: Towards precision medicine in inherited retinal diseases

Ballios, B. G., Pierce, E. A., & Huckfeldt, R. M. (2021) · Seminars in Ophthalmology · doi:10.1080/08820538.2021.1887903 · Cited by 11 · see citing works

[34] Animal models of inherited retinal diseases

Frederick, J. M., Bronson, J. D., & Baehr, W. (2000) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(00)16746-1 · Cited by 9 · see citing works

Neuroprotective effect of NecroX-5 against retinal degeneration in rodents

Kim, H. I., Paik, S.-S., Kim, G. H., Kim, M., Kim, S. H., & Kim, I. (2016) · Neuroreport · doi:10.1097/wnr.0000000000000666 · Cited by 8 · see citing works

Co-Injection of Sulfotyrosine Facilitates Retinal Uptake of Hyaluronic Acid Nanospheres Following Intravitreal Injection

Eblimit, A., Makia, M. S., Strayve, D., Crane, R., Conley, S. M., Sinha, T., Acharya, G. S., Al‐Ubaidi, M. R., & Naash, M. I. (2021) · Pharmaceutics · doi:10.3390/pharmaceutics13091510 · Cited by 8 · see citing works

Effective intravitreal gene delivery to retinal pigment epithelium with hyaluronic acid nanospheres

Crane, R., Makia, M. S., Zeibak, S., Tebbe, L., Ikelle, L., Woods, C. R., Conley, S. M., Acharya, G. S., Naash, M. I., & Al‐Ubaidi, M. R. (2024) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2024.102222 · Cited by 8 · see citing works

Characterization of the human diacylglycerol kinase ε gene and its assessment as a candidate for inherited retinitis pigmentosa

Tang, W., Bardien, S., Bhattacharya, S. S., & Prescott, S. M. (1999) · Gene · doi:10.1016/s0378-1119(99)00345-5 · Cited by 7 · see citing works

New Nomenclature of Human ABC Transporter Genes.

Ishikawa, T., ALLIKIMETS, R., Dean, M. C., Higgins, C. F., Ling, V. W. T., & Wain, H. (2000) · Drug Metabolism and Pharmacokinetics · doi:10.2133/dmpk.15.8 · Cited by 7 · see citing works

Chapter 45 Retinal disease in vertebrates

Brockerhoff, S. E. (2001) · Progress in brain research · doi:10.1016/s0079-6123(01)31049-x · Cited by 7 · see citing works

Variables and Strategies in Development of Therapeutic Post-Transcriptional Gene Silencing Agents

Sullivan, J. M., Yau, E. H., Kolniak, T. A., Sheflin, L. G., Taggart, R. T., & Abdelmaksoud, H. E. (2011) · Journal of Ophthalmology · doi:10.1155/2011/531380 · Cited by 6 · see citing works

[40] Cloning and characterization of retinal transcription factors, using target site-based methodology

Chen, S., & Zack, D. J. (2000) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(00)16752-7 · Cited by 6 · see citing works

A Two-stage Approach Identifies a Q344X Mutation in the Rhodopsin Gene of a Chinese Singaporean Family with Autosomal Dominant Retinitis Pigmentosa

Yong, R., Chee, C., & Yap, E. (2005) · Annals of the Academy of Medicine Singapore · doi:10.47102/annals-acadmedsg.v34n1p94 · Cited by 5 · see citing works

Strain Background Disease Characteristics

Smith, R. S., & Sundberg, J. P. (2001) · CRC Press eBooks · doi:10.1201/9781420041606-7 · Cited by 4 · see citing works

The Beneficial Role of the Thyroid Hormone Receptor Beta 2 (thrb2) in Facilitating the First Feeding and Subsequent Growth in Medaka as Fish Larval Model

Wu, J., Lu, K., Xie, R., Zhu, C., Luo, Q., & Liang, X. (2025) · Cells · doi:10.3390/cells14050386 · Cited by 3 · see citing works

Fortschritte in der somatischen Gentherapie von Netzhautdegenerationen am Tiermodell

Schlichtenbrede, F. C., Sarra, G., Ali, R. R., Wiedemann, P., & Reichel, M. B. (2002) · Der Ophthalmologe · doi:10.1007/s00347-002-0633-x · Cited by 3 · see citing works

Generalized Inherited Retinal Dystrophies

Khani, S. C., & Fasiuddin, A. F. (2010) · Springer eBooks · doi:10.1007/978-3-642-12041-1_12 · Cited by 2 · see citing works

Retinal Degeneration is Accelerated when a Mutant Rhodopsin Transgene is Expressed on a Haploid or Null Rhodopsin Background

Frederick, J. M., Krasnoperova, N. V., Hoffmann, K., Baehr, W., Lem, J., & Rüther, K. (2007) · Springer eBooks · doi:10.1007/978-0-585-33172-0_10 · Cited by 2 · see citing works

Retinal Degenerations: Genetics, Mechanisms, and Therapies

MacDonald, I. M., Naash, M. I., & Ayyagari, R. (2011) · Journal of Ophthalmology · doi:10.1155/2011/764873 · Cited by 1 · see citing works

Molecular Genetics of X-Chromosomal Juvenile Retinoschisis

Huopaniemi, L. (2000) · Työväentutkimus Vuosikirja · Cited by 1 · see citing works

Restoration of compact discs

Sakmar, T. P. (2000) · Nature Genetics · doi:10.1038/76976 · Cited by 1 · see citing works

Molekulare Grundlagen erblicher Netzhautdegenerationen: Retinitis pigmentosa, Zapfen- und Makuladystrophien

Apfelstedt-Sylla, E., Gal, A., & Weber, B. H. F. (2000) · Springer eBooks · doi:10.1007/978-3-642-57044-5_3 · Cited by 1 · see citing works

Genetik

(2007) · Springer eBooks · doi:10.1007/978-3-540-30455-5_45 · Cited by 1 · see citing works

Molecular genetics of X-linked cone-rod dystrophy and Åland Island eye disease

Jalkanen, R. (2008) · Työväentutkimus Vuosikirja

Retinal Proteins

Thompson, D. A., Gal, A., & Baehr, W. (2002) · Wiley Encyclopedia of Molecular Medicine · doi:10.1002/0471203076.emm0927

Retina

Smith, R. S., Hawes, N. L., Chang, B., & Nishina, P. M. (2001) · Research methods for mutant mice series · doi:10.1201/9781420041606.ch10

Molekulare Genetik

Augustin, A. J. (2001) · Springer eBooks · doi:10.1007/978-3-662-05919-7_45

POSITIONAL CLONING OF THE USHER SYNDROME TYPE 3 GENE (USH3)

Joensuu, T. H. (2002) · Työväentutkimus Vuosikirja

Anàlisi genètica i molecular de distròfies retinianes autosòmiques recessives.

Parici, E. P. (2002) · Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona)

Clinical aspects: outer retinal dystrophies

Bird, A. C. (1995) · Springer eBooks · doi:10.1007/978-94-011-0533-0_17 · Cited by 3 · see citing works

Molecular genetics of human retinal dystrophies

Inglehearn, C. F. (1998) · Eye · doi:10.1038/eye.1998.147 · Cited by 92 · see citing works

The genetics revolution as seen through the eye

(2017) · Acta Ophthalmologica · doi:10.1111/j.1755-3768.2017.02511

Molecular genetics and prospects for therapy of the inherited retinal dystrophies

Bessant, D. A. R. (2001) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(00)00195-7 · Cited by 113 · see citing works

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.

Nash, B. M., Wright, D. C., Grigg, J., Bennetts, B., & Jamieson, R. V. (2015) · PubMed Central · doi:10.3978/j.issn.2224-4336.2015.04.03 · Cited by 95 · see citing works