Cited by 203Retinal Development and DisordersRetinal Diseases and TreatmentsOcular Disorders and Treatments

The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

Haider, N. B.·2001·Human Molecular Genetics

Open this paper in CoChat — free account

Abstract

The rd7 mouse is a model for hereditary retinal degeneration characterized clinically by retinal spotting throughout the fundus and late onset retinal degeneration, and histologically by retinal dysplasia manifesting as folds and whorls in the photoreceptor layer. This study demonstrates that the rd7 phenotype results from a splicing error created by a genomic deletion of an intron and part of an exon. Hematoxylin/eosin staining of rd7 tissue shows that the whorls in the outer nuclear layer of the retina do not appear during embryonic development but manifest by postnatal day 12.5 (P12.5). Furthermore, in situ hybridization data indicates that the Nr2e3 message is first present at barely discernable levels at embryonic day 18.5, becomes abundant by P2.5, and reaches maximal adult levels by P10.5. Results from these experiments indicate that Nr2e3 message is expressed prior to the development of S-cones. This data coincides with studies in humans showing that mutations in Nr2e3 result in a unique type of retinal degeneration known as enhanced S-cone syndrome, where patients have a 30-fold increase in S-cone sensitivity compared to normal. Immunohistochemical staining of cone cells demonstrates that rd7 retinas have an increased number of cone cells compared to wild-type retinas. Thus, Nr2e3 may function by regulating genes involved in cone cell proliferation, and mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell-cell interactions.

Integrity signals

Registry

Crossref · 10.1093/hmg/10.16.1619

Cites

29 of 29 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

A thyroid hormone receptor that is required for the development of green cone photoreceptors
Ng, L., Hurley, J. B., Dierks, B. D., Srinivas, M., Saltó, C., Vennström, B., Reh, T. A., & Forrest, D. (2001) · Nature Genetics · doi:10.1038/83829 · Cited by 576
The Murine Cone Photoreceptor
Applebury, M. L., Antoch, M. P., Baxter, L. C., Chun, L. L. Y., Falk, J. D., Farhangfar, F., Kage, K., Krzystolik, M. G., Lyass, L., & Robbins, J. T. (2000) · Neuron · doi:10.1016/s0896-6273(00)00062-3 · Cited by 566
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) · Nature Genetics · doi:10.1038/72777 · Cited by 507
The structure of the nuclear hormone receptors
Kumar, R., & Thompson, E. B. (1999) · Steroids · doi:10.1016/s0039-128x(99)00014-8 · Cited by 433
Rods and cones in the mouse retina. II. Autoradiographic analysis of cell generation using tritiated thymidine
Carter‐Dawson, L. D., & LaVail, M. M. (1979) · The Journal of Comparative Neurology · doi:10.1002/cne.901880205 · Cited by 411
Unique topographic separation of two spectral classes of cones in the mouse retina
Szél, Á., Röhlich, P., Gaffé, A. R., Juliusson, B., Aguirre, G. K., & Veen, T. V. (1992) · The Journal of Comparative Neurology · doi:10.1002/cne.903250302 · Cited by 301
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) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.10.5551 · Cited by 221
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
Diagnostic Clinical Findings of a New Syndrome with Night Blindness, Maculopathy, and Enhanced S Cone Sensitivity
Marmor, M. F., Jacobson, S. G., Foerster, M. H., Kellner, U., & Weleber, R. G. (1990) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)76980-6 · Cited by 203
The steroid receptor superfamily: mechanisms of diversity
Fuller, P. J. (1991) · The FASEB Journal · doi:10.1096/fasebj.5.15.1743440 · Cited by 200

Show all 29 references

Sorted by citations

Items 101–200 of 203

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization
Scipio, M. D., Tavares, E. S., Deshmukh, S., Audo, I. S., Green-Sanderson, K., Zubak, Y., Zine-Eddine, F., Pearson, A., Vig, A., Tang, C. Y., et al. (2020) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.61.10.36 · Cited by 32
“44,48 Furthermore, the proband’s SD-OCT demonstrated characteristic retinal rosettes previously described in the rd7 mouse model mutant for Nr2e3 49 and human patients with NR2E3 -related ESCS (Vincent, A, IOVS, 2013, 54, 15, ARVO E-Abstract).”
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations
Garafalo, A. V., Calzetti, G., Cideciyan, A. V., Román, A. J., Saxena, S., Sumaroka, A., Choi, W., Wright, A. F., & Jacobson, S. G. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.18-24518 · Cited by 29
Potential of Small Molecule–Mediated Reprogramming of Rod Photoreceptors to Treat Retinitis Pigmentosa
Nakamura, P. A., Tang, S., Shimchuk, A. A., Ding, S., & Reh, T. A. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-20177 · Cited by 24
CERKL Knockdown Causes Retinal Degeneration in Zebrafish
Riera, M., Burguera, D., García‐Fernàndez, J., & Gonzàlez‐Duarte, R. (2013) · PLoS ONE · doi:10.1371/journal.pone.0064048 · Cited by 24
“, math5, NR2E3) [50], [51], cell cycle regulators (e.”
TrkB/BDNF signaling regulates photoreceptor progenitor cell fate decisions
Turner, B. A., Sparrow, J. R., Cai, B., Monroe, J. A., Mikawa, T., & Hempstead, B. L. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.08.025 · Cited by 25
“The production of rod photoreceptors is favored in cells expressing the transcription factor NR2ε3 (Haider et al., 2001), or exposed to FGF (McFarlane et al., 1998) and hedgehog family members (Levine et al., 1997; Stenkamp et al., 2000).”
Background
Retinal pathology of a patient with Goldmann-Favre Syndrome
Bonilha, V. L., Fishman, G. A., Rayborn, M. E., & Hollyfield, J. G. (2009) · Ophthalmic Genetics · doi:10.3109/13816810903176765 · Cited by 24
Physiological function of S-cone system is not enhanced in rd7 mice
Ueno, S., Kondo, M., Miyata, K., Hirai, T., Miyata, T., Usukura, J., Nishizawa, Y., & Miyake, Y. (2005) · Experimental Eye Research · doi:10.1016/j.exer.2005.04.013 · Cited by 24
Genetic modifiers as relevant biological variables of eye disorders
Meyer, K. J., & Anderson, M. G. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx180 · Cited by 22
Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration
Liu, F., Qin, Y., Huang, Y., Gao, P., Li, J., Yu, S., Jia, D., Chen, X. '., Lv, Y., Tu, J., et al. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1009841 · Cited by 25
“This may explain why the S-cones but not the green-cones are alternatively increased in the Nrl and Nr2e3 knockout mice [10,11,32,37].”
BackgroundResult
Disruption of the Gene Encoding the β1-Subunit of Transducin in the Rd4 /+ Mouse
Kitamura, E., Danciger, M., Yamashita, C. K., Rao, N. P., Nusinowitz, S., Chang, B., & Farber, D. B. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1164 · Cited by 23
Loss of NR2E3 represses AHR by LSD1 reprogramming, is associated with poor prognosis in liver cancer
Khanal, T., Choi, K., Leung, Y., Wang, J., Kim, D., Govindarajah, V., Cho, S., Puga, A., Ho, S., & Kim, K. (2017) · Scientific Reports · doi:10.1038/s41598-017-11106-2 · Cited by 23
Generation of three-dimensional retinal organoids expressing rhodopsin and S- and M-cone opsins from mouse stem cells
Ueda, K., Onishi, A., Shinichiro, I. T. O., Nakamura, M., & Takahashi, M. (2017) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2017.12.092 · Cited by 23
Nr2e3 and Nrl can reprogram retinal precursors to the rod fate in Xenopus retina
McIlvain, V. A., & Knox, B. E. (2007) · Developmental Dynamics · doi:10.1002/dvdy.21128 · Cited by 23
“The retina-specific orphan nuclear receptor (Nr2e3) (Kobayashi et al., 1999) also plays a crucial role in photoreceptor development and maintenance (Akhmedov et al., 2000; Haider et al., 2001; Yanagi et al., 2002).”
BackgroundInfluential
A Strong and Highly Significant QTL on Chromosome 6 that Protects the Mouse from Age-Related Retinal Degeneration
Danciger, M., Lyon, J., Worrill, D., LaVail, M. M., & Yang, H. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-1252 · Cited by 22
Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis.
Chen, C., Xie, Y., Sun, T., Tian, L., Xu, K. Y., Zhang, X., & Li, Y. (2020) · PubMed Central · Cited by 21
The enhanced S-cone syndrome in children
Khan, A. O., Aldahmesh, M. A., & Meyer, B. F. (2007) · British Journal of Ophthalmology · doi:10.1136/bjo.2006.097956 · Cited by 21
Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease
Toms, M., Ward, N., & Moosajee, M. (2023) · Genes · doi:10.3390/genes14071325 · Cited by 21
“A common hallmark of NR2E3-related disease is an abnormally increased number of cone photoreceptors that are sensitive to short wavelength (blue) light, the S-cones, which has been evidenced by psychophysical, electrophysiological [3,4], and histopathological [5] examination of patients, and animal studies [6].”
Background
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene
Langmann, T., Lai, C. C.-L., Weigelt, K., Tam, B. M., Warneke-Wittstock, R., Moritz, O. L., & Weber, B. H. F. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn737 · Cited by 20
“CRX is a nuclear protein critical for general photoreceptor maturation in both rods and cones (24,25), while NR2E3 and NRL have specific roles in rod photoreceptor maturation and suppression of cone proliferation (19,26,27).”
Background
Multimodal Regulation Orchestrates Normal and Complex Disease States in the Retina
Olivares, A. M., Jelcick, A. S., Reinecke, J. B., Leehy, B. D., Haider, A., Morrison, M. A., Cheng, L. Z., Chen, D. F., DeAngelis, M. M., & Haider, N. B. (2017) · Scientific Reports · doi:10.1038/s41598-017-00788-3 · Cited by 20
Vision in Observers With Enhanced S-Cone Syndrome: An Excess of S-Cones but Connected Mainly to Conventional S-Cone Pathways
Ripamonti, C., Aboshiha, J., Henning, G. B., Sergouniotis, P. I., Michaelides, M., Moore, A. T., Webster, A. R., & Andrew Stockman, A. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-12897 · Cited by 20
Circadian clocks, retinogenesis and ocular health in vertebrates: new molecular insights
Béry, A., Bagchi, U., Bergen, A. A. B., & Felder‐Schmittbuhl, M. (2022) · Developmental Biology · doi:10.1016/j.ydbio.2022.02.001 · Cited by 22
Engineering Retina from Human Retinal Progenitors (Cell Lines)
Dutt, K., & Cao, Y. (2008) · Tissue Engineering Part A · doi:10.1089/ten.tea.2007.0358 · Cited by 20
Core-clock genes Period 1 and 2 regulate visual cascade and cell cycle components during mouse eye development
Bagchi, U., Gegnaw, S. T., Milićević, N., Sandu, C., ten Brink, J. B., Jongejan, A., Hicks, D., Moerland, P. D., Felder‐Schmittbuhl, M., & Bergen, A. A. B. (2020) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2020.194623 · Cited by 19
“When overexpressed in developing photoreceptors, Nr2e3 drives their differentiation towards a rod fate at the expense of cones [75], whereas its absence may lead to “hyperfunction” of S-cones [76, 77].”
Background
Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain
von Alpen, D. C., Tran, H. V., Guex, N., Venturini, G., Munier, F. L., Schorderet, D. F., Haider, N. B., & Escher, P. (2015) · Human Mutation · doi:10.1002/humu.22775 · Cited by 18
“The excess of S-cones observed in the absence of NR2E3 disrupts the retinal architecture by formation of rosettes and whorls in the retina [Akhmedov et al., 2000; Haider et al., 2001; Jacobson et al., 2004].”
Background
Deregulation of NR2E3, an orphan nuclear receptor, by benzo(a)pyrene-induced oxidative stress is associated with histone modification status change of the estrogen receptor gene promoter
Khanal, T., Kim, D., Johnson, A. L., Choubey, D., & Kim, K. (2015) · Toxicology Letters · doi:10.1016/j.toxlet.2015.06.1708 · Cited by 17
“NR2E3 is an orphan nuclear receptor that is a vital player in retina development, differentiation and survival (Kobayashi et al., 1999; Akhmedov et al., 2000; Haider et al., 2001; Milam et al., 2002).”
Background
In Pursuit of Synthetic Modulators for the Orphan Retina-Specific Nuclear Receptor NR2E3
Qin, Q., Knapinska, A. M., Dobri, N., Madoux, F., Chase, P. S., Hodder, P., & Petrukhin, K. E. (2012) · Journal of Ocular Pharmacology and Therapeutics · doi:10.1089/jop.2012.0135 · Cited by 16
Rethinking Nuclear Receptors as Potential Therapeutic Targets for Retinal Diseases
Choudhary, M., & Malek, G. (2016) · SLAS DISCOVERY · doi:10.1177/1087057116659856 · Cited by 16
“Furthermore, the autosomal recessive retinal degeneration 7 (rd7) mouse, identified at the Jackson Laboratory, has been presented as a murine model for NR2E3-associated retinal disease.(30,46) These rd7 mice are characterized by retinal folding associated with retinal spots and late-onset retinal degeneration(46) and…”
Background
Bilateral ischaemic retinal vasculopathy in scleroderma
Minasian, M. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.061499 · Cited by 16
EST analysis of mouse retina and RPE/choroid cDNA libraries.
Ida, H., Boylan, S. A., Weigel, A. L., Smit‐McBride, Z., Chao, A., Gao, J., Buchoff, P., Wistow, G. J., & Hjelmeland, L. M. (2004) · PubMed · Cited by 16
Development of the High Throughput Screening Assay for Identification of Agonists of an Orphan Nuclear Receptor
Kapitskaya, M. Z., Cunningham, M. E. A., Lacson, R., Kornienko, O., Bednár̂, B., & Petrukhin, K. E. (2006) · Assay and Drug Development Technologies · doi:10.1089/adt.2006.4.253 · Cited by 14
Interspecies Correlations between Human and Mouse NR2E3-Associated Recessive Disease
Iannaccone, A., Brabbit, E., Lopez-Miro, C., Love, Z., Griffiths, V., Kedrov, M., & Haider, N. B. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10030475 · Cited by 14
“The retinal degeneration 7 (rd7) murine model, Nr2e3rd7/rd7 (rd7), lacks a functional Nr2e3 gene and is a model for all Nr2e3 associated retinal degenerations [24,42].”
BackgroundResultInfluential
Retinal Imaging Findings in Inherited Retinal Diseases
Corradetti, G., Verma, A., Tojjar, J., Almidani, L., Oncel, D., Emamverdi, M., Bradley, A., Lindenberg, S., Nittala, M. G., & Sadda, S. R. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13072079 · Cited by 13
Comparative Evaluation and Profiling of Chemical Tools for the Nuclear Hormone Receptor Family 2
Lewandowski, M., Busch, R., Marschner, J. A., & Merk, D. (2025) · ACS Pharmacology & Translational Science · doi:10.1021/acsptsci.4c00719 · Cited by 13
“81,82 Furthermore, PNR is necessary for the repression of cone-specific transcription and the activation of rhodopsin expression in adult rod photoreceptor cells, ensuring the E u r op e P M C F und e r s A u t ho r M a nu s c r i p t s E u r op e P M C F und e r s A u t ho r M a nu s c r i p t s…”
A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 rd7/rd7 retinas
Nystuen, A., Sachs, A. J., Yuan, Y., Heuermann, L., & Haider, N. B. (2008) · Mammalian Genome · doi:10.1007/s00335-008-9138-5 · Cited by 13
“In the nmf193 mutant, the haploinsufficiency of Prph2 causes a slow progressive degeneration of the photoreceptors, grossly similar to that of the Nr2e3rd7/rd7 mutant (Akhmedov et al. 2000; Haider et al. 2001).”
Influential
℮-conome: an automated tissue counting platform of cone photoreceptors for rodent models of retinitis pigmentosa
Clérin, E., Wicker, N., Mohand‐Saïd, S., Poch, O., Sahel, J., & Léveillard, T. (2011) · BMC Ophthalmology · doi:10.1186/1471-2415-11-38 · Cited by 13
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
Acar, C., Mears, A. J., Yashar, B. M., Maheshwary, A. S., Andréasson, S., Baldi, A., Sieving, P. A., Iannaccone, A., Musarella, M. A., Jacobson, S. G., et al. (2003) · PubMed · Cited by 13
Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models
Aísa-Marín, I., López-Iniesta, M. J., Navarro, S. M., Lillo, J., Navarro, G., de la Villa, P., & Marfany, G. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105122 · Cited by 12
A novel mutation in the RDS gene in an Italian family with pattern dystrophy
Testa, F. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.064188 · Cited by 12
FIZ1 is expressed during photoreceptor maturation, and synergizes with NRL and CRX at rod-specific promoters in vitro
Mali, R. S., Zhang, X., Hoerauf, W. W., Doyle, D., Devitt, J., Loffreda-Wren, J. L., & Mitton, K. P. (2006) · Experimental Eye Research · doi:10.1016/j.exer.2006.10.009 · Cited by 12
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome
Rocha‐Sousa, A., Hayashi, T., Gomes, N. L., Penas, S. C., Brandão, E., Rocha, P., Urashima, M., Yamada, H., Tsuneoka, H., & Falcão‐Reis, F. (2010) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-010-1482-y · Cited by 12
“Functionally, NR2E3 protein regulates the proper differentiation and maturation of rod and cone photoreceptors [6–10].”
Background
Hereditary Vitreoretinal Degenerations
Edwards, A. O., & Robertson, J. E. (2006) · Elsevier eBooks · doi:10.1016/b978-0-323-02598-0.50026-4 · Cited by 12
Effect of vascular endothelial growth factor upregulation on retinal gene expression in the Kimba mouse
Binz, N., Rahman, I. S. A., Chinnery, H. R., McKeone, R., Simpson, K., Speed, T. P., Lai, C., & Rakoczy, P. E. (2012) · Clinical and Experimental Ophthalmology · doi:10.1111/j.1442-9071.2012.02845.x · Cited by 11
An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency
Kong, Y., Zhao, L., Charette, J. R., Hicks, W. L., Stone, L. V., Nishina, P. M., & Naggert, J. Κ. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy238 · Cited by 11
General and Special Histopathology
Smith, R. S., Zabeleta, A., John, S. W. M., Bechtold, L. S., Ikeda, S., Relyea, M., Sundberg, J. P., Kao, W. W. ‐., & Liu, C. (2001) · Research methods for mutant mice series · doi:10.1201/9781420041606.ch13 · Cited by 11
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
Udar, N., Small, K. W., Chalukya, M., Silva-Garcia, R., & Marmor, M. F. (2011) · PubMed Central · Cited by 10
Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases
Aísa-Marín, I., Rovira, Q., Díaz, N., Calvo‐López, L., Vaquerizas, J. M., & Marfany, G. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2024.106463 · Cited by 9
Inherited retinal disease-associated uveitis
Hung, J., Jain, T., Khatri, A., Nguyen, T. T., Nguyen, C. D.-T., Yavari, N., Mobasserian, A., Karaca, I., Mohammadi, S. S., Gupta, A., et al. (2025) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2025.03.011 · Cited by 9
Insights from Genetic Model Systems of Retinal Degeneration: Role of Epsins in Retinal Angiogenesis and VEGFR2 Signaling.
Dong, Y., Cai, X., Wu, Y., Liu, Y., Deng, L., & Chen, H. (2017) · PubMed · Cited by 8
In vivo analysis of onset and progression of retinal degeneration in the Nr2e3rd7/rd7 mouse model of enhanced S-cone sensitivity syndrome
Venturini, G., Kokona, D., Steiner, B. L., Bulla, E. G., Jovanovic, J., Zinkernagel, M. S., & Escher, P. (2021) · Scientific Reports · doi:10.1038/s41598-021-98271-7 · Cited by 8
The enhanced S-cone syndrome in children
Khan, A. O., Aldahmesh, M. A., & Meyer, B. F. (2009) · BMJ Case Reports · doi:10.1136/bcr.10.2008.1163 · Cited by 8
Ocular presentation of the SAPHO syndrome
Smith, M. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.057430 · Cited by 8
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.
Fradot, M., Lorentz, O., Wurtz, J., Sahel, J., & Léveillard, T. (2007) · PubMed Central · Cited by 8
Mouse Models of RP
Chang, B., Hawes, N. L., Davisson, M. T., & Heckenlively, J. R. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-186-4_8 · Cited by 7
“The function of Nr2e3 may be involved in cone cell proliferation, and mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell–cell interactions ( 55 ).”
Background
Ethmoidal sinus mucocele: an unusual cause of acquired Brown syndrome
Bhola, R. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.062349 · Cited by 7
The Xenopus ortholog of the nuclear hormone receptor Nr2e3 is primarily expressed in developing photoreceptors
Luna, R. I. M., & El‐Hodiri, H. M. (2007) · The International Journal of Developmental Biology · doi:10.1387/ijdb.062236rm · Cited by 7
Orphan nuclear receptor NR2E3 is a new molecular vulnerability in solid tumors by activating p53
Wang, Y., Kroll, T. G., Hao, L., & Wen, Z. H. (2025) · Cell Death and Disease · doi:10.1038/s41419-025-07337-1 · Cited by 6
“Deletion of a 380-nt fragment in the mouse Nr2e3 coding region disrupts the DNA-binding domain (DBD), leading to similar retinal degenerations observed in the rd7 mouse model [10].”
IVF babies with ROP at higher gestational age and birth weight: implications of changing screening criteria
Minasian, M. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.062935 · Cited by 6
Outer retinal tubulation associated with photoreceptor degeneration
Lin, V., Lee, W. Y., Kang, E. Y., Liu, P., & Wang, N.-K. (2026) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2026.101435 · Cited by 4
Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration
Goverdhan, S. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.064139 · Cited by 5
Pathobiology of the Outer Retina: Genetic and Nongenetic Causes of Disease
Haider, N. B., Cruz, N. M., Allocca, M., & Yuan, J. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-386456-7.04706-7 · Cited by 6
Mouse Genetic Approaches to Access Pathways Important in Retinal Function
Nishina, P. M., & Naggert, J. Κ. (2003) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-0067-4_4 · Cited by 5
Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication
Adele, R., Hussein, R., Tavares, E. S., Ahmed, K., Scipio, M. D., Charish, J., Liang, M., Monis, S., Tumber, A. K., Chen, X., et al. (2024) · JCI Insight · doi:10.1172/jci.insight.178768 · Cited by 4
“Multiple mouse models of retinal degeneration display photoreceptor rosettes between P8 and P28 [rd7 ( Nr2e3 rd7/rd7 ), Crb1 –/– , and Nrl −/− mice] and subsequent ONL thinning (55-58).”
Active DNA demethylation upstream of rod-photoreceptor fate determination is required for retinal development
Hernández‐Núñez, I., Urman, A., Zhang, X., Jacobs, W., Hoffmann, C. M., Rebba, S., Harding, E. G., Li, Q., Mao, F., Cani, A. K., et al. (2025) · PLoS Biology · doi:10.1371/journal.pbio.3003332 · Cited by 4
“…in Tet tcKO retinas at both the transcript and protein level, we also compared Tet tcKO methylation profiles to methylation profiles of sorted photoreceptors from rd7 mice, a model where the rod-promoting NR2E3 transcription factor is mutated and all photoreceptors are cone-like [30,79,80,103].”
Disorders of Color Vision
Deeb, S. S., & Motulsky, A. G. (2012) · doi:10.1093/med/9780195326147.003.0030 · Cited by 4
The unfulfilled gene and nervous system development in Drosophila
Bates, K. E., Molnar, J., & Robinow, S. (2014) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2014.06.013 · Cited by 3
Morphological and Functional Comparison of Mice Models for Retinitis Pigmentosa
Gopalakrishnan, P., Beryozkin, A., Banin, E., & Sharon, D. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-27681-1_53 · Cited by 3
Evaluating therapeutic potential of NR2E3 doses in the rd7 mouse model of retinal degeneration
McNamee, S. M., Akula, M., Love, Z., Nasraty, N., Nystuen, K., Singh, P., Upadhyay, A. K., DeAngelis, M. M., & Haider, N. B. (2024) · Scientific Reports · doi:10.1038/s41598-024-67095-6 · Cited by 3
“Our previous studies of rd7 mice treated with Nr2e3 showed improved ERG responses measured up to 3-months post treatment 16,18 .”
BackgroundMethodInfluential
OCULAR FUNDUS IMAGES BY SCANNING LASER OPHTHALMOSCOPY IN A PATIENT WITH ENHANCED S-CONE SYNDROME
Usui, T., Ichibe, M., Tanimoto, N., Ueki, S., Takagi, M., Hasegawa, S., Abe, H., Miyagawa, Y., & Nakazawa, M. (2004) · Retina · doi:10.1097/00006982-200412000-00016 · Cited by 3
Elevated PRDM13 Disrupts Photoreceptor Function and Survival in the Mammalian Retina
Nettesheim, E. R., Rowe, A. A., Yee, T., Alshaikhsalama, A. M., Cepica, T. B., Dutt, V., Virani, S. S., Wickersham, G., Mahajan, V. B., Small, K. W., et al. (2025) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.66.11.38 · Cited by 2
“NR2E3 is expressed in the photoreceptor ONL, 38 and the decrease over time is likely due to photoreceptor degeneration in our PRDM13-OE retinas.”
Influential
In vivo efficacy of NRL knockdown with cell-penetrating siRNA in retinal degeneration
Lee, H., Jang, H., Chae, J., Lee, H. K., Son, C., Park, C., Ha, T., Yum, M.-J., Park, S., Hong, S. W., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-07299-6 · Cited by 2
Cell Fate Determination of Photoreceptor Cells
Cepko, C. L. (2014) · Springer eBooks · doi:10.1007/978-4-431-54880-5_9 · Cited by 2
Overexpression of Retinal Degeneration Slow (RDS) Protein Adversely Affects Rods in the rd7 Model of Enhanced S-Cone Syndrome
Chakraborty, D., Conley, S. M., & Naash, M. I. (2013) · PLoS ONE · doi:10.1371/journal.pone.0063321 · Cited by 2
“approximately 2-fold increase in blue opsin (S-opsin) expressing cells [16,17].”
BackgroundMethodInfluential
SUMO Weighs In on a Photoreceptor Finish
LaBonne, C. (2009) · Developmental Cell · doi:10.1016/j.devcel.2009.01.017 · Cited by 2
Hereditary Vitreoretinal Degenerations
Tang, S., Ding, X., & Luo, Y. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4557-0737-9.00041-2 · Cited by 2
Management of Cataracts and Glaucoma
Spencer, N. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2005.068098 · Cited by 2
Transcriptional Factors Involved in Photoreceptor Differentiation
Akimoto, M. (2005) · Seminars in Ophthalmology · doi:10.1080/08820530590921864 · Cited by 2
Nr2e3 -Deficient Mice Show Evidence for Elevated Photoreceptor Bioenergetics and Retinal Visual Cycle Activity Based on OCT Metabolic Biomarkers
Berkowitz, B. A., Podolsky, R. H., Burgoyne, T., Hayes, M. J., Katz, R., Waseem, R., Soetedjo, J., Ataman, E. S., & Roberts, R. (2026) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.67.4.57 · Cited by 1
Coupling ex vivo electroporation of mouse retinas and luciferase reporter assays to assess rod-specific promoter activity
Boulling, A., & Escher, P. (2016) · Experimental Eye Research · doi:10.1016/j.exer.2016.06.002 · Cited by 1
Correction: Genetic Variations Strongly Influence Phenotypic Outcome in the Mouse Retina
Jelcick, A. S., Yuan, Y., Leehy, B. D., Cox, L. C., Silveira, A. C., Qiu, F., Schenk, S., Sachs, A. J., Morrison, M. A., Nystuen, A., et al. (2011) · PLoS ONE · doi:10.1371/annotation/f375292d-9fc7-4e3c-9dc7-af0aee76fa15 · Cited by 1
An Update on the Regulation of Rod Photoreceptor Development
Levine, E. M., & Fuhrmann, S. (2008) · Humana Press eBooks · doi:10.1007/978-1-59745-374-5_3
How to Make a Rod Photoreceptor: The Role of bZIP Transcription Factor NRL in Retinal Development.
Oh, E. C. T. (2008) · Deep Blue (University of Michigan)
Chapter 16 Experimental genetic disorders and visual neurophysiology
Peachey, N. S., & Ball, S. L. (2005) · Handbook of clinical neurophysiology · doi:10.1016/s1567-4231(09)70213-8
S- and M-Cone Electroretinograms in rd7 Mice with NR2E3 Gene Mutation
Ueno, S., Kondo, M., Takahashi, A., & Miyake, Y. (2003) · Springer eBooks · doi:10.1007/978-4-431-68447-3_36
Resumos expandidos do 33o Congresso Brasileiro ANCLIVEPA
da Silva, A. W. C. (2012) · Archives of Veterinary Science · doi:10.5380/avs.v17i1.26746
NR2E3-Linked Retinal Degenerations
Schorderet, D. F., Haider, N. B., & Escher, P. (2012) · doi:10.1093/med/9780195326147.003.0029
11 Modeling Neuroretinal Development and Disease in Stem Cells
Lamba, D. A. (2017) · CRC Press eBooks · doi:10.1201/9781315402185-12
Assessment and modulation of gliosis in inherited eye disease and its impact on cell replacement therapy
Graca, A. B. (2017) · UCL Discovery (University College London)
Induction of Rod and Cone Photoreceptor-Specific Progenitors from Stem Cells
Ballios, B. G., Khalili, S., Shoichet, M. S., & van der Kooy, D. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-27378-1_90
Title of Dissertation
Monson, J. (2019) · Scholarship & Creative Works - Digital UNC a service of University Libraries (University of Northern Colorado)
Degenerative Night-Blinding Disorders and Cone and Cone–Rod Dystrophies
Kheir, W. J., Yu, M., Senatore, A., Racioppi, A., Gattegna, R., Creel, D. J., & Iannaccone, A. (2019) · Springer eBooks · doi:10.1007/978-3-030-30417-1_6
Orphan nuclear receptor NR2E3 and its small-molecule agonist induce cancer cell apoptosis through regulating p53, IFNα and MYC pathwaysPreprint
Wang, Y., Kroll, T. G., Hao, L., Sharma, A., Zhou, V., Moat, L. F., Mayer, J. G., Shukla, S. S., Hebbring, S. J., Guo, S., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.26.573366
“The deletion of a 380-nt fragment in the mouse Nr2e3 coding region damages the DBD domain and results in similar retinal degenerations in the rd7 mouse model (10).”
Background
Mouse NR2E3 R296Q Mutation Disrupts Photoreceptor Developmental Paradigm and Leads to Early‐Onset Progressive Retinal Degeneration by Suppressing RXRG Signaling
Jin, J., Wang, S., Huang, Y., & Xie, S. (2025) · The FASEB Journal · doi:10.1096/fj.202402980r
Disorders of Color Vision
Neitz, M., & Neitz, J. (2025) · Oxford University Press eBooks · doi:10.1093/med/9780197659403.003.0036
NR2E3-Linked Retinal Degenerations
Escher, P. (2025) · Oxford University Press eBooks · doi:10.1093/med/9780197659403.003.0035
Deletion of versican V0/V2 isoforms in mice leads to retinal dysplasia
Hoffmann, A. K., Bauer, N., Geigenfeind, M. C., Seibold, S., Seitz, R., Fuchshofer, R., Tamm, E. R., & Dillinger, A. E. (2025) · Experimental Eye Research · doi:10.1016/j.exer.2025.110819
A robust cis -regulatory network ensures Otx2 expression during retinal development
Purvis, I. J., Olmos, O. E. O., Park, K. U., Kaufman, M. L., Henry, C. M., Schaaf, C., Clise, O. J., Tesdahl, C. D., Haas, A., & Brzezinski, J. A. (2026) · Development · doi:10.1242/dev.204881
“We stained these retinas with the rod marker NR2E3 (Haider et al., 2000, 2001; Bumsted O ’ Brien et al., 2004; Peng et al., 2005) and observed that these OTX2-negative cells were NR2E3 + (Fig.”
Role of the Glycogen Synthase Kinase 3 for the Retinal Development and Homeostasis
Braginskaja, E. (2018) · theses.fr (ABES) · doi:10.70675/72532a81z164ez4786z8c84zaf55afbdfa1d
“Photoreceptors overexpress S-opsin and progressively degenerate (Haider et al., 2001).”
Allele-specific knockout by CRISPR/Cas to treat autosomal dominant retinitis pigmentosa caused by the G56R mutation in NR2E3
Diakatou, M. (2021) · theses.fr (ABES) · doi:10.70675/64d1153fz8732z45e4zb419z2eb0e32507e9
Biological rhythms in retinal development
Bagchi, U. (2022) · theses.fr (ABES) · doi:10.70675/f3adc3caz635bz4f0ezbd7az684aff912e21
The connection between circadian clock impairment and retinal disease
Gegnaw, S. T. (2023) · theses.fr (ABES) · doi:10.70675/96a2aa96za6cez420ez978cz9066584466ff

Authors: Haider, N. B.
Affiliations: Jackson Laboratory (US)
Corresponding author: Haider, N. B.
ORCID: Haider, N. B.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2001-08-01
Volume: 10
Issue: 16
Pages: 1619-1626
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/10.16.1619
OpenAlex: W2157773282
Cited by: 202
References: 29
Citations by year: 2026: 5 · 2025: 10 · 2024: 4 · 2023: 4 · 2022: 3 · 2021: 6 · 2020: 7 · 2019: 5 · 2018: 3 · 2017: 9 · 2016: 6 · 2015: 8 · 2014: 5 · 2013: 8 · 2012: 11
FWCI: 3.15
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
Funders: National Institutes of Health (NRSA T32)
National Eye Institute (EY 11996, R01EY011996)
National Cancer Institute (#CA34196, P30CA034196)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (T32 HD07065-21, T32HD007065)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Health Sciences › Medicine › Ophthalmology › Ocular Disorders and Treatments
Keywords: NR2E3, retinal degeneration, retinal dysplasia, S-cone photoreceptors, intron deletion, splicing errors, enhanced S-cone syndrome
MeSH terms: Animals, Cell Count, Cell Differentiation, Cell Division, Female, Fundus Oculi, Genotype, Humans, Immunohistochemistry, Male, Mice, Inbred C57BL, Mutation, Phenotype, Retina, Retinal Degeneration, Transcription Factors, Retinal Dysplasia, Retinal Cone Photoreceptor Cells, Receptors, Cytoplasmic and Nuclear, Gene Expression Profiling, Mice, Orphan Nuclear Receptors

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks