ReviewHuman genetics2019
Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.
Review in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 50 citations in OpenAlex.
- Deletion in CACNA1F gene causes X-linked progressive retinal atrophy in English Cocker Spaniel dogs.BMC veterinary research · 2026Article
- Histopathologic and ultrastructural features of the choriocapillaris in dogs with sudden acquired retinal degeneration syndrome and progressive retinal atrophy.Veterinary pathology · 2026Article
- Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant.Veterinary ophthalmology · 2026Article
- Evaluating the outcomes of pluripotent stem-cell-derived photoreceptor transplantation in retinal repair.The FEBS journal · 2025Review
- Analysis of canine gene constraint identifies new variants for orofacial clefts and stature.Genome research · 2025Article
- Consensus guidelines for nomenclature of companion animal inherited retinal disorders.Veterinary ophthalmology · 2025Article
- Article
- Bringing the Genomic Revolution to Comparative Oncology: Human and Dog Cancers.Annual review of biomedical data science · 2024Review
- Large-scale genomic analysis of the domestic dog informs biological discovery.Genome research · 2024Review
- Article
- Genome-wide analyses reveals an association between invasive urothelial carcinoma in the Shetland sheepdog and NIPAL1.NPJ precision oncology · 2024Article
- Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs.Veterinary record open · 2023Article
- Article
- Reduced inspired oxygen decreases retinal superoxide radicals and promotes cone function and survival in a model of retinitis pigmentosa.Free radical biology & medicine · 2023Article
- Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.Cold Spring Harbor perspectives in medicine · 2023Review
- A comprehensive review of genomic perspectives of canine diseases as a model to study human disorders.Canadian journal of veterinary research = Revue canadienne de recherche veterinaire · 2023Review
- Dog-human translational genomics: state of the art and genomic resources.Journal of applied genetics · 2022Review
- Systemic immunosuppression promotes survival and integration of subretinally implanted human ESC-derived photoreceptor precursors in dogs.Stem cell reports · 2022Article
- Roles of plant-based ingredients and phytonutrients in canine nutrition and health.Journal of animal physiology and animal nutrition · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders eventually leading to blindness with different ages of onset, progression and severity. Human RP, first characterized by the progressive degeneration of rod photoreceptor cells, shows high genetic heterogeneity with more than 90 genes identified. However, about one-third of patients have no known genetic causes. Interestingly, dogs are also severely affected by similar diseases, called progressive retinal atrophy (PRA). Indeed, RP and PRA have comparable clinical signs, physiopathology and outcomes, similar diagnosis methods and most often, orthologous genes are involved. The many different dog PRAs often segregate in specific breeds. Indeed, undesired alleles have been selected and amplified through drastic selection and excessive use of inbreeding. Out of the 400 breeds, nearly 100 have an inherited form of PRA, which are natural animal models that can be used to investigate the genetics, disease progression and therapies in dogs for the benefit of both dogs and humans. Recent knowledge on the canine genome and access to new genotyping and sequencing technologies now efficiently allows the identification of mutations involved in canine genetic diseases. To date, PRA genes identified in dog breeds correspond to the same genes in humans and represent relevant RP models, and new genes found in dogs represent good candidate for still unknown human RP. We present here a review of the main advantages of the dog models for human RP with the genes already identified and an X-linked PRA in the Border collie as a model for orphan X-linked RPs in human.
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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.