The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
Open accessAbstract
Mutations in the gene encoding the beta subunit of rod cGMP phosphodiesterase are known causes of photoreceptor degeneration in two animal models of retinitis pigmentosa, the rd (retinal degeneration) mouse and the Irish setter dog with rod/cone dysplasia. Here we report a screen of 92 unrelated patients with autosomal recessive retinitis pigmentosa for defects in the human homologue of this gene. We identified seven different mutations that cosegregate with the disease. They were found among four patients with each patient heterozygously carrying two mutations. All of these mutations are predicted to affect the putative catalytic domain, probably leading to a decrease in phosphodiesterase activity and an increase in cGMP levels within rod photoreceptors. Mutations in the gene encoding the beta subunit of rod phosphodiesterase are the most common identified cause of autosomal recessive retinitis pigmentosa, accounting for approximately 4% of cases in North America.
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Cites
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.
Kunkel, L. M., Smith, K. D., Boyer, S. H., Borgaonkar, D. S., Wachtel, S. S., Miller, O. J., Breg, W. R., Jones, H. W., & Rary, J. M. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.3.1245 · Cited by 1,334
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
Self-citationBowes, C., Li, T., Danciger, M., Baxter, L. C., Applebury, M. L., & Farber, D. B. (1990) · Nature · doi:10.1038/347677a0 · Cited by 852
McLaughlin, M. E., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1993) · Nature Genetics · doi:10.1038/ng0693-130 · Cited by 596
Self-citationPittler, S. J., & Baehr, W. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.19.8322 · Cited by 564
Visual excitation and recovery
Stryer, L. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)99072-1 · Cited by 528
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 512
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
Kajiwara, K., Hahn, L. B., Mukai, S., Travis, G. H., Berson, E. L., & Dryja, T. P. (1991) · Nature · doi:10.1038/354480a0 · Cited by 471
Self-citationRhodopsin mutations in autosomal dominant retinitis pigmentosa.
Sung, C. H., Davenport, C. M., Hennessey, J. C., Maumenee, I. H., Jacobson, S. G., Heckenlively, J. R., Nowakowski, R., Fishman, G., Gouras, P., & Nathans, J. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.15.6481 · Cited by 461
A Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
Marmor, M. F. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110018004 · Cited by 459
Cited by
Hartong, D. T., Berson, E. L., & Dryja, T. P. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69740-7 · Cited by 2,924
Self-citationRetinal degeneration mutants in the mouse
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
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
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
Update on viral gene therapy clinical trials for retinal diseases
Cheng, S.-Y., & Punzo, C. (2022) · Human Gene Therapy · doi:10.1089/hum.2022.159 · Cited by 49
Metadata
- Authors
- McLaughlin, M. E., Ehrhart, T. L., Berson, E. L., & Dryja, T. P.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1995-04-11
- Volume
- 92
- Issue
- 8
- Pages
- 3249-3253
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2025299744
- Cited by
- 288
- References
- 34
- FWCI
- 6.39
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. https://app.cochat.ai/papers/10.1073/pnas.92.8.3249
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- McLaughlin, M. E., Ehrhart, T. L., Berson, E. L., & Dryja, T. P. (1995). Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.92.8.3249
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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