ArticleMolecular medicine (Cambridge, Mass.)2012
Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa.
Article in Molecular medicine (Cambridge, Mass.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 23 citations in OpenAlex.
- Expanding the clinical and genetic spectrum ofExperimental biology and medicine (Maywood, N.J.) · 2026Article
- Correcting a patient-specific Rhodopsin mutation with adenine base editor in a mouse model.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.Human molecular genetics · 2022Article
- CRISPR genome surgery in a novel humanized model for autosomal dominant retinitis pigmentosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Dark noise and retinal degeneration from D190N-rhodopsin.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Hypoxic drive caused type 3 neovascularization in a preclinical model of exudative age-related macular degeneration.Human molecular genetics · 2019Article
- Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoCellular and molecular life sciences : CMLS · 2019Article
- Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.Genetics · 2019Article
- Sector retinitis pigmentosa: Report of ten cases and a review of the literature.Molecular vision · 2019Review
- Clustered Regularly Interspaced Short Palindromic Repeats-Based Genome Surgery for the Treatment of Autosomal Dominant Retinitis Pigmentosa.Ophthalmology · 2018Article
- Article
- Halting progressive neurodegeneration in advanced retinitis pigmentosa.The Journal of clinical investigation · 2015Article
- Silencing of tuberin enhances photoreceptor survival and function in a preclinical model of retinitis pigmentosa (an american ophthalmological society thesis).Transactions of the American Ophthalmological Society · 2014Article
- Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Constitutively active rhodopsin and retinal disease.Advances in pharmacology (San Diego, Calif.) · 2014Review
- The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death.The Journal of biological chemistry · 2013Article
- Therapeutic margins in a novel preclinical model of retinitis pigmentosa.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- Thermal stability of rhodopsin and progression of retinitis pigmentosa: comparison of S186W and D190N rhodopsin mutants.The Journal of biological chemistry · 2013Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Rhodopsin is the G protein-coupled receptor in charge of initiating signal transduction in rod photoreceptor cells upon the arrival of the photon. D190N (Rho(D190n)), a missense mutation in rhodopsin, causes autosomal-dominant retinitis pigmentosa (adRP) in humans. Affected patients present hyperfluorescent retinal rings and progressive rod photoreceptor degeneration. Studies in humans cannot reveal the molecular processes causing the earliest stages of the condition, thus necessitating the creation of an appropriate animal model. A knock-in mouse model with the D190N mutation was engineered to study the pathogenesis of the disease. Electrophysiological and histological findings in the mouse were similar to those observed in human patients, and the hyperfluorescence pattern was analogous to that seen in humans, confirming that the D190N mouse is an accurate model for the study of adRP.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.