ArticleThe British journal of ophthalmology1993
Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.
Article in The British journal of ophthalmology, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 32 citations in OpenAlex.
- A small molecule enhances arrestin-3 binding to the βCommunications chemistry · 2025Article
- Arrestin-1 engineering facilitates complex stabilization with native rhodopsin.Scientific reports · 2019Article
- Enhanced Mutant Compensates for Defects in Rhodopsin Phosphorylation in the Presence of Endogenous Arrestin-1.Frontiers in molecular neuroscience · 2018Article
- Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant.Investigative ophthalmology & visual science · 2018Article
- The cytoplasmic tail of rhodopsin triggers rapid rod degeneration in kinesin-2 mutants.The Journal of biological chemistry · 2017Article
- Enhanced phosphorylation-independent arrestins and gene therapy.Handbook of experimental pharmacology · 2014Article
- Targeting individual GPCRs with redesigned nonvisual arrestins.Handbook of experimental pharmacology · 2014Article
- The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death.The Journal of biological chemistry · 2013Article
- Engineering visual arrestin-1 with special functional characteristics.The Journal of biological chemistry · 2013Article
- The functional cycle of visual arrestins in photoreceptor cells.Progress in retinal and eye research · 2011Review
- Custom-designed proteins as novel therapeutic tools? The case of arrestins.Expert reviews in molecular medicine · 2010Review
- Enhanced arrestin facilitates recovery and protects rods lacking rhodopsin phosphorylation.Current biology : CB · 2009Article
- Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients.Journal of genetics · 2001Article
- Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 1997Article
- Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.The British journal of ophthalmology · 1995Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
A family is described in which an 8 base pair deletion (nucleotides 5252-5259, codons 341-343) of the rhodopsin gene cosegregates with autosomal dominant retinitis pigmentosa (adRP). The deletion results in a shift in the reading frame, causing a rhodopsin molecule extended by one residue and substantially altered at the carboxyl terminus. Phenotypic expression is relatively mild. In affected members, night blindness did not occur before the age of 16, and late onset of visual field loss was consistently reported. Even older individuals (59 and 76 years) had preserved central islands in the visual field; a younger female patient had normal visual fields until the age of 34. ERG and psychophysical tests showed well preserved cone function at stages of virtually abolished rod function. Phenotypic differences and similarities between this form of adRP and others associated with mutations at the carboxyl terminus of the rhodopsin molecule are discussed. The cause of RP by mutations in this region remains to be clarified.
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