A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse
Open accessAbstract
The rd7 mouse, an animal model for hereditary retinal degeneration, has some characteristics similar to human flecked retinal disorders. Here we report the identification of a deletion in a photoreceptor-specific nuclear receptor (mPNR) mRNA that is responsible for hereditary retinal dysplasia and degeneration in the rd7 mouse. mPNR was isolated from a pool of photoreceptor-specific cDNAs originally created by subtractive hybridization of mRNAs from normal and photoreceptorless rd mouse retinas. Localization of the gene corresponding to mPNR to mouse Chr 9 near the rd7 locus made it a candidate for the site of the rd7 mutation. Northern analysis of total RNA isolated from rd7 mouse retinas revealed no detectable signal after hybridization with the mPNR cDNA probe. However, with reverse transcription-PCR, we were able to amplify different fragments of mPNR from rd7 retinal RNA and to sequence them directly. We found a 380-nt deletion in the coding region of the rd7 mPNR message that creates a frame shift and produces a premature stop codon. This deletion accounts for more than 32% of the normal protein and eliminates a portion of the DNA-binding domain. In addition, it may result in the rapid degradation of the rd7 mPNR message by the nonsense-mediated decay pathway, preventing the synthesis of the corresponding protein. Our findings demonstrate that mPNR expression is critical for the normal development and function of the photoreceptor cells.
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The Nr2e3rd7 mouse has an exon 4,5 deletion in the Nr2e3 gene, causing a frameshift mutation that results in a premature stop codon.
“The Nr2e3rd7 mouse has an exon 4,5 deletion in the Nr2e3 gene, causing a frameshift mutation that results in a premature stop codon”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Akhmedov et al., 2000
Nr2e3rd7 mice have additional retinal vascular attenuation and mottled retinal pigmentation at 16 months of age.
“There is additional retinal vascular attenuation and mottled retinal pigmentation at 16 months of age”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Akhmedov et al., 2000
ERGs of homozygous Nr2e3rd7 mice show progressive reduction of both rod and cone signals starting at 5 months of age, and wave amplitudes were 50% of normal by 16 months of age.
“ERGs of homozygous Nr2e3rd7 mice show progressive reduction of both rod and cone signals starting at 5 months of age, and wave amplitudes were 50% of normal by 16 months of age”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Akhmedov et al., 2000
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Cites
The nuclear receptor superfamily: the second decade
Mangelsdorf, D. J., Thummel, C., Beato, M., Herrlich, P., Schütz, G., Umesono, K., Blumberg, B., Kastner, P., Mark, M., Chambon, P., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90199-x · Cited by 6,964 · see citing works
The RXR heterodimers and orphan receptors
Mangelsdorf, D. J., & Evans, R. M. (1995) · Cell · doi:10.1016/0092-8674(95)90200-7 · Cited by 3,133 · 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
Rickman, C. B., Li, T., Danciger, M., Baxter, L. C., Applebury, M., & Farber, D. B. (1990) · Nature · doi:10.1038/347677a0 · Cited by 852 · see citing works
Self-citationMultiplicity generates diversity in the retinoic acid signalling pathways
Leid, M., Kastner, P., & Chambon, P. (1992) · Trends in Biochemical Sciences · doi:10.1016/0968-0004(92)90014-z · Cited by 821 · see citing works
A type VII myosin encoded by the mouse deafness gene shaker-1
Gibson, F., Walsh, J. C., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., & Brown, S. D. M. (1995) · Nature · doi:10.1038/374062a0 · Cited by 682 · see citing works
McLaughlin, M. E., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1993) · Nature Genetics · doi:10.1038/ng0693-130 · Cited by 594 · see citing works
Zbar, B., Kishida, T., Chen, F., Schmidt, L. S., Maher, E. R., Richards, F. M., Crossey, P. A., Webster, A. R., Affara, N. A., Ferguson-Smith, M. A., et al. (1996) · Human Mutation · doi:10.1002/(sici)1098-1004(1996)8:4 · Cited by 503 · see citing works
Increasing the Complexity of Coactivation in Nuclear Receptor Signaling
Freedman, L. P. (1999) · Cell · doi:10.1016/s0092-8674(00)80708-4 · Cited by 445 · see citing works
Culbertson, M. R., & Culbertson, M. R. (1999) · Trends in Genetics · doi:10.1016/s0168-9525(98)01658-8 · Cited by 400 · see citing works
Travis, G. H., Brennan, M. B., Danielson, P. E., Kozak, C. A., & Sutcliffe, J. G. (1989) · Nature · doi:10.1038/338070a0 · Cited by 400 · see citing works
Self-citationA candidate gene for the mouse mutation tubby
Noben‐Trauth, K., Naggert, J. K., North, M. A., & Nishina, P. M. (1996) · Nature · doi:10.1038/380534a0 · Cited by 356 · see citing works
Self-citationMethodology in mammalian genetics
Burdette, W. J. (1963) · Holden-Day eBooks · doi:10.5962/bhl.title.6428 · Cited by 302 · see citing works
Orphan nuclear receptors—new ligands and new possibilities: Figure 1.Preprint
Blumberg, B., & Evans, R. M. (1998) · Genes & Development · doi:10.1101/gad.12.20.3149 · Cited by 301 · see citing works
Identification of a photoreceptor cell-specific nuclear receptor
Kobayashi, M., Takezawa, S., Hara, K., Yu, R. T., Umesono, Y., Agata, K., Taniwaki, M., Yasuda, K., & Umesono, K. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.9.4814 · Cited by 215 · see citing works
Hagstrom, S. A., North, M. A., Nishina, P. M., Berson, E. L., & Dryja, T. P. (1998) · Nature Genetics · doi:10.1038/ng0298-174 · Cited by 203 · see citing works
Self-citationIsolation of DNA from biological specimens without extraction with phenol.
Buffone, G. J., & Darlington, G. J. (1985) · Clinical Chemistry · doi:10.1093/clinchem/31.1.164 · Cited by 192 · see citing works
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) · Nature Genetics · doi:10.1038/ng0298-177 · Cited by 153 · see citing works
Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes.
Hawes, N. L., Smith, R. S., Chang, B., Davisson, M. T., Heckenlively, J. R., & John, S. W. M. (1999) · PubMed · Cited by 143 · see citing works
Self-citationAdamson, M. C., Silver, J. E., & Kozak, C. A. (1991) · Virology · doi:10.1016/0042-6822(91)91010-e · Cited by 126 · see citing works
Self-citationBruford, E. A., Riise, R., Teague, P., Porter, K., Thomson, K. L., Moore, A. T., Jay, M., Warburg, M., Schinzel, A., Tommerup, N., et al. (1997) · Genomics · doi:10.1006/geno.1997.4613 · Cited by 125 · see citing works
Molecular genetic markers spanning mouse chromosome 10
Kozak, C. A., Peyser, M., Krall, M., Mariano, T. M., Kumar, C. S., Pestka, S., & Mock, B. A. (1990) · Genomics · doi:10.1016/0888-7543(90)90039-w · Cited by 119 · see citing works
Self-citationMutations in the PDE6B Gene in Autosomal Recessive Retinitis Pigmentosa
Danciger, M., BLANEY, J., GAO, Y. Q., Zhao, D., Heckenlively, J. R., Jacobson, S. G., & Farber, D. B. (1995) · Genomics · doi:10.1006/geno.1995.0001 · Cited by 119 · see citing works
Self-citationTaylor, B. A., Navin, A., & Phillips, S. J. (1994) · Genomics · doi:10.1006/geno.1994.1323 · Cited by 89 · see citing works
The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors.
Reid, S. N., Akhmedov, N. B., Piriev, N. I., Kozak, C., Danciger, M., & Farber, D. B. (1999) · Gene · doi:10.1016/s0378-1119(98)00578-2 · Cited by 76 · see citing works
Self-citationIsolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse.
Rickman, C. B., Danciger, M., Kozak, C. A., & Farber, D. B. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.24.9722 · Cited by 71 · see citing works
Self-citationBayés, M., Giordano, M., Balcells, S., Grinberg, D., Vilageliu, L., Martinez, I., Ayuso, C., Benitez, J. J., Ramos-Arroyo, M. A., Chivelet, P., et al. (1995) · Human Mutation · doi:10.1002/humu.1380050307 · Cited by 71 · see citing works
Screening for mouse retinal degenerations
Heckenlively, J. R., Winston, J. V., & Roderick, T. H. (1989) · Documenta Ophthalmologica · doi:10.1007/bf00170972 · Cited by 32 · see citing works
Self-citationMitchell, S. J., McHale, D. P., Campbell, D. A., Lench, N., Mueller, R. F., Bundey, S., & MARKHAM, A. F. (1998) · The American Journal of Human Genetics · doi:10.1086/301821 · Cited by 16 · see citing works
Flagged first, then by citations
1 of the 30 references couldn’t be matched to a known paper.
Research works printed but not linked: 3
- [14]Hawes NL, Smith RS, Chang B, Davisson M, Heckenlively JR, John SW. Mol Vis. 1999;5:22. [[PubMed](https://pubmed.ncbi.nlm.nih.gov/10493779/)] [[Google Scholar](https://scholar.google.com/scholar_lookup?journal=Mol%20Vis&author=NL%20Hawes&author=RS%20Smith&author=B%20Chang&author=M%20Davisson&author=JR%20Heckenlively&volume=5&publication_year=1999&pages=22&pmid=10493779&)]
- [15]Buffone G J, Darlington G J. Clin Chem. 1985;31:164–165. [[PubMed](https://pubmed.ncbi.nlm.nih.gov/3965205/)] [[Google Scholar](https://scholar.google.com/scholar_lookup?journal=Clin%20Chem&author=G%20J%20Buffone&author=G%20J%20Darlington&volume=31&publication_year=1985&pages=164-165&pmid=3965205&)]
- [23]Gerber S, Santos L, Lopez L, Gribouval O, Ferraz F, Kaplan J. Invest Ophthalmol Visual Sci. 1999;40:S604. [[Google Scholar](https://scholar.google.com/scholar_lookup?journal=Invest%20Ophthalmol%20Visual%20Sci&author=S%20Gerber&author=L%20Santos&author=L%20Lopez&author=O%20Gribouval&author=F%20Ferraz&volume=40&publication_year=1999&pages=S604&)]
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Bookout, A. L., Jeong, Y., Downes, M., Yu, R. T., Evans, R. M., & Mangelsdorf, D. J. (2006) · Cell · doi:10.1016/j.cell.2006.06.049 · Cited by 1,015 · see citing works
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Chang, B., Hawes, N. L., Hurd, R. E., Davisson, M. T., Nusinowitz, S., & Heckenlively, J. R. (2002) · Vision Research · doi:10.1016/s0042-6989(01)00146-8 · Cited by 840 · see citing works
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Swaroop, A., Kim, D., & Forrest, D. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2880 · Cited by 560 · see citing works
Chang, B., Khanna, H., Hawes, N. L., Jimeno, D., He, S., Lillo, C., Parapuram, S. K., Cheng, H., Scott, A., Hurd, R. E., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl107 · Cited by 379 · see citing works
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Cheng, H. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh173 · Cited by 268 · see citing works
van de Pavert, S. A., Kantardzhieva, A., Malysheva, A. N., Meuleman, J., Versteeg, I. A. J., Levelt, C. N., Klooster, J., Geiger, S., Seeliger, M. W., Rashbass, P., et al. (2004) · Journal of Cell Science · doi:10.1242/jcs.01301 · Cited by 250 · see citing works
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Milam, A. H., Rose, L., Cideciyan, A. V., Barakat, M., Tang, W.-X., Gupta, N., Alemán, T. S., Wright, A. F., Stone, E. M., Sheffield, V. C., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.022533099 · Cited by 238 · see citing works
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Corbo, J. C., & Cepko, C. L. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010011 · Cited by 174 · see citing works
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Roosing, S., Thiadens, A. A. H. J., Hoyng, C. B., Klaver, C. C. W., den Hollander, A. I., & Cremers, F. P. M. (2014) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2014.05.001 · Cited by 146 · see citing works
Pacione, L. R., Szego, M. J., Ikeda, S., Nishina, P. M., & McInnes, R. R. (2003) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.26.041002.131416 · Cited by 142 · see citing works
Self-citationLi, J., Oh, E. C. T., Ng, L., Srinivas, M., Brooks, M., Swaroop, A., & Forrest, D. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0902425106 · Cited by 140 · see citing works
Lyu, P., Hoang, T. V., Santiago, C. P., Thomas, E. D., Timms, A. E., Appel, H., Gimmen, M. Y., Le, N., Jiang, L., Kim, D. W., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.109994 · Cited by 137 · see citing works
Oh, E. C. T., Cheng, H., Hong, H., Jia, L., Khan, N. W., & Swaroop, A. (2008) · Brain Research · doi:10.1016/j.brainres.2008.01.028 · Cited by 132 · see citing works
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Xiang, M. (2012) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-012-1183-2 · Cited by 110 · see citing works
Schorderet, D. F., & Escher, P. (2009) · Human Mutation · doi:10.1002/humu.21096 · Cited by 110 · see citing works
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Haider, N. B., DeMarco, P. J., Nystuen, A., Huang, X., Smith, R. S., McCall, M. A., Naggert, J. Κ., & Nishina, P. M. (2006) · Visual Neuroscience · doi:10.1017/s095252380623027x · Cited by 86 · see citing works
Self-citationMouse mutants as models for congenital retinal disorders
Dalke, C., & Graw, J. (2005) · Experimental Eye Research · doi:10.1016/j.exer.2005.06.004 · Cited by 85 · see citing works
Jacobson, S. G., Cideciyan, A. V., Alemán, T. S., Sumaroka, A., Schwartz, S., Windsor, E. A. M., Román, A. J., Héon, E., Stone, E. M., & Thompson, D. A. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0599 · Cited by 81 · see citing works
Naturally occurring animal models with outer retina phenotypes
Baehr, W., & Frederick, J. M. (2009) · Vision Research · doi:10.1016/j.visres.2009.04.008 · Cited by 79 · see citing works
Mouse Model Resources for Vision Research
Won, J., Shi, L. Y., Hicks, W. L., Wang, J., Hurd, R. E., Naggert, J. Κ., Chang, B., & Nishina, P. M. (2010) · Journal of Ophthalmology · doi:10.1155/2011/391384 · Cited by 79 · see citing works
Self-citationMollema, N., Yuan, Y., Jelcick, A. S., Sachs, A. J., von Alpen, D. C., Schorderet, D. F., Escher, P., & Haider, N. B. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017494 · Cited by 79 · see citing works
van de Pavert, S. A., Meuleman, J., Malysheva, A. N., Aartsen, W. M., Versteeg, I. A. J., Tonagel, F., Kamphuis, W., McCabe, C. J., Seeliger, M. W., & Wijnholds, J. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.3496-06.2007 · Cited by 77 · see citing works
Mouse models of ocular diseases
Chang, B., Hawes, N. L., Hurd, R. E., Wang, J., Howell, D., Davisson, M. T., Roderick, T. H., Nusinowitz, S., & Heckenlively, J. R. (2005) · Visual Neuroscience · doi:10.1017/s0952523805225075 · Cited by 75 · see citing works
Self-citationGenetic analysis of photoreceptor cell development in the zebrafish retina
Doerre, G., & Malicki, J. J. (2002) · Mechanisms of Development · doi:10.1016/s0925-4773(01)00571-8 · Cited by 74 · see citing works
Chen, J., Rattner, A., & Nathans, J. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl138 · Cited by 73 · see citing works
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
Escher, P., Gouras, P., Roduit, R., Tiab, L., Bolay, S., Delarive, T., Chen, S., Tsai, C., Hayashi, M., Zernant, J., et al. (2008) · Human Mutation · doi:10.1002/humu.20858 · Cited by 72 · see citing works
Copland, D. A., Wertheim, M. S., Armitage, W. J., Nicholson, L. B., Raveney, B. J. E., & Dick, A. D. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-2348 · Cited by 70 · see citing works
Optogenetic Gene Therapy for the Degenerate Retina: Recent Advances
McClements, M. E., Staurenghi, F., MacLaren, R. E., & Cehajic‐Kapetanovic, J. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.570909 · Cited by 70 · see citing works
Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene
Wang, N., Fine, H. F., Chang, S., Chou, C. L., Cella, W., Tosi, J., Lin, C.-S., Nagasaki, T., & Tsang, S. H. (2009) · British Journal of Ophthalmology · doi:10.1136/bjo.2008.153577 · Cited by 69 · see citing works
Retinoic Acid Regulates the Expression of Photoreceptor Transcription Factor NRL
Khanna, H., Akimoto, M., Siffroi‐Fernandez, S., Friedman, J. S., Hicks, D., & Swaroop, A. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m605500200 · Cited by 69 · see citing works
Li, S., Datta, S., Brabbit, E., Love, Z., Woytowicz, V., Flattery, K., Capri, J., Yao, K., Wu, S., Imboden, M., et al. (2021) · Gene Therapy · doi:10.1038/s41434-020-0134-z · Cited by 68 · see citing works
The retinal mosaics of opsin expression in invertebrates and vertebrates
Rister, J., & Desplan, C. (2011) · Developmental Neurobiology · doi:10.1002/dneu.20905 · Cited by 62 · see citing works
de Melo, J., Peng, G.-H., Chen, S., & Blackshaw, S. (2011) · Development · doi:10.1242/dev.061846 · Cited by 65 · see citing works
Animal modelling for inherited central vision loss
Kostic, C., & Arsenijévic, Y. (2015) · The Journal of Pathology · doi:10.1002/path.4641 · Cited by 64 · see citing works
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice
Friedman, J. S., Chang, B., Krauth, D. S., López, I., Waseem, N. H., Hurd, R. E., Feathers, K. L., Branham, K. E. H., Shaw, M., Thomas, G. E., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002897107 · Cited by 63 · see citing works
Self-citationYanagi, Y., Takezawa, S., & Kato, S. (2002) · PubMed · Cited by 62 · see citing works
The role of opsin expression and apoptosis in determination of cone types in human retina
Cornish, E. E., Xiao, M., Yang, Z., Provis, J. M., & Hendrickson, A. E. (2004) · Experimental Eye Research · doi:10.1016/j.exer.2004.01.004 · Cited by 62 · see citing works
Minireview: The Role of Nuclear Receptors in Photoreceptor Differentiation and Disease
Forrest, D., & Swaroop, A. (2012) · Molecular Endocrinology · doi:10.1210/me.2012-1010 · Cited by 60 · see citing works
Omori, Y., Kubo, S., Kon, T., Furuhashi, M., Narita, H., Kominami, T., Ueno, A. M., Tsutsumi, R., Chaya, T., Yamamoto, H., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1707021114 · Cited by 60 · see citing works
Ezra, D. G. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.062406 · Cited by 60 · see citing works
Cheng, H., Khan, N. W., Roger, J. E., & Swaroop, A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr334 · Cited by 60 · see citing works
Preparation and square wave electroporation of retinal explant cultures
Donovan, S. L., & Dyer, M. A. (2006) · Nature Protocols · doi:10.1038/nprot.2006.454 · Cited by 58 · see citing works
Li, T., Lewallen, M. E., Chen, S., Yu, W., Zhang, N., & Xie, T. (2013) · Cell Research · doi:10.1038/cr.2013.48 · Cited by 56 · see citing works
Genetic modifiers of vision and hearing
Haider, N. B. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.10.1195 · Cited by 55 · see citing works
Roger, J. E., Ranganath, K., Zhao, L., Cojocaru, R. I., Brooks, M., Gotoh, N., Veleri, S., Hiriyanna, A., Rachel, R. A., Campos, M. M., et al. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.3591-11.2012 · Cited by 52 · see citing works
Pias3-dependent SUMOylation controls mammalian cone photoreceptor differentiation
Onishi, A., Peng, G.-H., Chen, S., & Blackshaw, S. (2010) · Nature Neuroscience · doi:10.1038/nn.2618 · Cited by 52 · see citing works
Peng, G.-H., & Chen, S. (2005) · Visual Neuroscience · doi:10.1017/s0952523805225063 · Cited by 52 · see citing works
Kim, E. J., Grant, G. R., Bowman, A. S., Haider, N., Gudiseva, H. V., & Chavali, V. R. M. (2018) · Scientific Reports · doi:10.1038/s41598-018-21104-7 · Cited by 50 · see citing works
Dual role of Nr2e3 in photoreceptor development and maintenance
Webber, A. L., Hodor, P. G., Thut, C. J., Vogt, T., Zhang, T., Holder, D., & Petrukhin, K. E. (2008) · Experimental Eye Research · doi:10.1016/j.exer.2008.04.006 · Cited by 49 · see citing works
Kumar, R. A., McGhee, K. A., Leach, S. R., Bonaguro, R. J., Maclean, A. W., Aguirre-Hernández, R., Abrahams, B. S., Coccaro, E. F., Hodgins, S., Turecki, G., et al. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30696 · Cited by 48 · see citing works
Cruz, N. M., Yuan, Y., Leehy, B. D., Baid, R., Kompella, U., DeAngelis, M. M., Escher, P., & Haider, N. B. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087942 · Cited by 47 · see citing works
Takezawa, S., Yokoyama, A., Okada, M., Fujiki, R., Iriyama, A., Yanagi, Y., Ito, H., Takada, I., Kishimoto, M., Miyajima, A., et al. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601548 · Cited by 47 · see citing works
RetractedHayashi, T., Gekka, T., Goto‐Omoto, S., Takeuchi, T., Kubo, A., & Kitahara, K. (2005) · Ophthalmology · doi:10.1016/j.ophtha.2005.07.002 · Cited by 47 · see citing works
Tan, M. H. E., Zhou, X. E., Soon, F.-F., Li, X., Li, J., Yong, E., Melcher, K., & Xu, H. E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0074359 · Cited by 46 · see citing works
Peng, G.-H., & Chen, S. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1109209108 · Cited by 43 · see citing works
The Determination of Rod and Cone Photoreceptor Fate
Cepko, C. L. (2015) · Annual Review of Vision Science · doi:10.1146/annurev-vision-090814-121657 · Cited by 46 · see citing works
Macular Function Assessed by Microperimetry in Patients with Enhanced S-Cone Syndrome
Sohn, E. H., Chen, F. K., Rubin, G. S., Moore, A. T., Webster, A. R., & MacLaren, R. E. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2009.10.046 · Cited by 45 · see citing works
The BALB/c mouse: Effect of standard vivarium lighting on retinal pathology during aging
Bell, B. A., Kaul, C. A., Bonilha, V. L., Rayborn, M. E., Shadrach, K. G., & Hollyfield, J. G. (2015) · Experimental Eye Research · doi:10.1016/j.exer.2015.04.009 · Cited by 44 · see citing works
Fundus Autofluorescence Findings in a Mouse Model of Retinal Detachment
Secondi, R., Kong, J., Blonska, A. M., Staurenghi, G., & Sparrow, J. R. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-9672 · Cited by 44 · see citing works
Wightman, B., Ebert, B., Carmean, N., Weber, K. P., & Clever, S. (2005) · Developmental Biology · doi:10.1016/j.ydbio.2005.08.032 · Cited by 44 · see citing works
Mice lacking Period 1 and Period 2 circadian clock genes exhibit blue cone photoreceptor defects
Hakkari, O. A.-H., Felder‐Schmittbuhl, M., Garrido, M. G., Beck, S. C., Seide, C., Sothilingam, V., Tanimoto, N., Seeliger, M. W., Bennis, M., & Hicks, D. (2013) · European Journal of Neuroscience · doi:10.1111/ejn.12103 · Cited by 41 · see citing works
- Authors
- 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., Danciger, M., Davisson, M. T., & Farber, D. B.
- Affiliations
- University of California, Los Angeles (US)
- Jules Stein Eye Institute, University of California School of Medicine, Los Angeles, CA 90095-7000; The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609-1500; National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892; Department of Biology, Loyola Marymount University, Los Angeles, CA 90045; and Molecular Biology Institute, University of California, Los Angeles, CA 90095
- Corresponding author
- Farber, Debora B.
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2000-05-09
- Volume
- 97
- Issue
- 10
- Pages
- 5551-5556
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC25866
- OpenAlex
- W2127724565
- Cited by
- 221
- References
- 30
- Citations by year
- 2026: 6 · 2025: 5 · 2024: 4 · 2023: 6 · 2022: 1 · 2021: 7 · 2020: 6 · 2019: 3 · 2018: 6 · 2017: 14 · 2016: 2 · 2015: 9 · 2014: 5 · 2013: 7 · 2012: 9
- FWCI
- 3.14
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Funders
- Research to Prevent Blindness
- National Institutes of Health
- National Eye Institute (R01EY008285, R01EY007758, EY 11996, EY07758, R01EY011996, EY08285)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- inherited retinal degeneration, photoreceptors, nuclear receptors, nonsense mutation, frame shift, DNA-binding domain, nonsense-mediated mRNA decay, photoreceptor development, retinal dysplasia, mouse chromosome 9
- MeSH terms
- Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Electroretinography, Genetic Markers, Humans, Mice, Inbred C57BL, Mice, Inbred Strains, Mice, Mutant Strains, Molecular Sequence Data, Retinal Degeneration, RNA, Messenger, Transcription Factors, Sequence Deletion, DNA Primers, Receptors, Cytoplasmic and Nuclear, Codon, Terminator, Reverse Transcriptase Polymerase Chain Reaction, Photoreceptor Cells, Vertebrate, Mice, Orphan Nuclear Receptors
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