ArticleScientific reports2017
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04751058 (Genetic Profile in Patients With Aortic Syndrome), which is not on this map. Cited by 48 papers.
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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.
Genetic Profile in Patients With Aortic Syndrome
Who cites it
48 citing papers in PubMed, 80 citations in OpenAlex.
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- Atypical retinitis pigmentosa associated withAmerican journal of ophthalmology case reports · 2026Article
- Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions.Journal of personalized medicine · 2026Review
- Elevating Jak-STAT signaling via SOCS3 deletion sustains photoreceptor viability and visual function in mouse models of retinitis pigmentosa.Cell communication and signaling : CCS · 2026Article
- Insights IntoHuman mutation · 2026Review
- Single-Cell Transcriptomics onBiomedicines · 2025Article
- BiallelicInternational journal of molecular sciences · 2025Article
- In vivo prime editing rescues photoreceptor degeneration in nonsense mutant retinitis pigmentosa.Nature communications · 2025Article
- Ablating VHL in rod photoreceptors modulates RPE glycolysis and improves preclinical model of retinitis pigmentosa.The Journal of clinical investigation · 2025Article
- A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.Journal of translational medicine · 2025Article
- "ArmedFrontiers in cell and developmental biology · 2025Review
- Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients.Current issues in molecular biology · 2024Article
- Housing RCS rats under specific pathogen-free conditions mildly ameliorates retinal degeneration and alters intestine microbiota.Scientific reports · 2024Article
- New Improved cGMP Analogues to Target Rod Photoreceptor Degeneration.Journal of medicinal chemistry · 2024Article
- Molecular mechanisms underlying inherited photoreceptor degeneration as targets for therapeutic intervention.Frontiers in cellular neuroscience · 2024Review
- Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies.Journal of clinical medicine · 2023Review
- Clinical applications of gene therapy for rare diseases: A review.International journal of experimental pathology · 2023Review
- Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.International journal of molecular sciences · 2023Review
- Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.BMC ophthalmology · 2023Article
- Modeling Retinitis Pigmentosa with Patient-Derived iPSCs.Advances in experimental medicine and biology · 2023Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) disorder. Although the relative prevalence of each form varies somewhat between populations, a major proportion (41% in Spain) of patients represent simplex cases (sRP) in which the mode of inheritance is unknown. Molecular genetic diagnostic is crucial, but also challenging, for sRP patients because any of the 81 RP genes identified to date may be causative. Herein, we report the use of a customized targeted gene panel consisting of 68 IRD genes for the molecular characterization of 106 sRP cases. The diagnostic rate was 62.26% (66 of 106) with a proportion of clinical refinements of 30.3%, demonstrating the high efficiency of this genomic approach even for clinically ambiguous cases. The high number of patients diagnosed here has allowed us to study in detail the genetic basis of the sRP. The solved sRP cohort is composed of 62.1% of arRP cases, 24.2% of adRP and 13.6% of xlRP, which implies consequences for counselling of patients and families.
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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.