The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Open accessAbstract
Mutations in the genes encoding two proteins of the retinal rod phototransduction cascade, opsin and the beta subunit of rod cGMP phosphodiesterase, cause retinitis pigmentosa (RP) in some families. Here we report defects in a third member of this biochemical pathway in still other patients with this disease. We screened 94 unrelated patients with autosomal dominant RP and 173 unrelated patients with autosomal recessive RP for mutations in the gene encoding the alpha subunit of the rod cGMP-gated cation channel. Five mutant sequences cosegregated with disease among four unrelated families with autosomal recessive RP. Two of these were nonsense mutations early in the reading frame (Glu76End and Lys139End) and one was a deletion encompassing most if not all of the transcriptional unit; these three alleles would not be expected to encode a functional channel. The remaining two mutations were a missense mutation (Ser316Phe) and a frameshift [Arg654(1-bp del)] mutation truncating the last 32 aa in the C terminus. The latter two mutations were expressed in vitro and found to encode proteins that were predominantly retained inside the cell instead of being targeted to the plasma membrane. We conclude that the absence or paucity of functional cGMP-gated cation channels in the plasma membrane is deleterious to rod photoreceptors and is an uncommon cause of RP.
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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
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Self-citationDefective myosin VIIA gene responsible for Usher syndrome type IB
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Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci
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Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
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Self-citationA Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
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A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa
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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-citationCremers, F. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.355 · Cited by 548
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
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Cyclic Nucleotide-Gated Ion Channels: An Extended Family With Diverse Functions
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Metadata
- Authors
- Dryja, T. P., Finn, J. T., Peng, Y. W., McGee, T. L., Berson, E. L., & Yau, K. W.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1995-10-24
- Volume
- 92
- Issue
- 22
- Pages
- 10177-10181
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2025368485
- Cited by
- 277
- References
- 18
- FWCI
- 7.70
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. https://app.cochat.ai/papers/10.1073/pnas.92.22.10177
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- Dryja, T. P., Finn, J. T., Peng, Y. W., McGee, T. L., Berson, E. L., & Yau, K. W. (1995). Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.92.22.10177
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