ArticleHuman molecular genetics2016
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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.
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Who cites it
26 citing papers in PubMed, 38 citations in OpenAlex.
- The EH-binding protein EHBP1 operates in a ciliary functional module affected by INPP5E dysfunction.Journal of cell science · 2026Article
- L-DOPA Promotes Post-Treatment Neurovascular and Synaptic Homeostasis in Early Diabetic Retinopathy.Investigative ophthalmology & visual science · 2026Article
- Advances in RPGR gene therapy for X‑linked retinitis pigmentosa: From preclinical insights to clinical application (Review).International journal of molecular medicine · 2026Review
- L-DOPA treatment promotes sustained neurovascular and synaptic homeostasis in the diabetic retina.bioRxiv : the preprint server for biology · 2026Article
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- Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of anInternational journal of molecular sciences · 2024Article
- RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency.International journal of molecular sciences · 2023Article
- Modeling Retinitis Pigmentosa with Patient-Derived iPSCs.Advances in experimental medicine and biology · 2023Review
- Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel IntronicJournal of personalized medicine · 2022Article
- Oxidative Stress Resistance 1 Gene Therapy Retards Neurodegeneration in the rd1 Mutant Mouse Model of Retinopathy.Investigative ophthalmology & visual science · 2021Article
- Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases.Journal of cell science · 2021Article
- Article
- Article
- Primary cilia biogenesis and associated retinal ciliopathies.Seminars in cell & developmental biology · 2021Review
- RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).Human molecular genetics · 2021Article
- Article
- X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.Ophthalmology. Retina · 2020Article
- Review
- A Common Outer Retinal Change in Retinal Degeneration by Optical Coherence Tomography Can Be Used to Assess Outcomes of Gene Therapy.Human gene therapy · 2019Article
- Ocular Ciliopathies: Genetic and Mechanistic Insights into Developing Therapies.Current medicinal chemistry · 2019Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in RPGR (retinitis pigmentosa GTPase regulator) are the most common cause of X-linked RP, a severe blindness disorder. RPGR mutations result in clinically variable disease with early- to late-onset phenotypic presentation. Molecular mechanisms underlying such heterogeneity are unclear. Here we show that phenotypic expression of Rpgr-loss in mice is influenced genetically by the loss of Cep290, a human ciliopathy gene. We found that Rpgr
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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.