ArticleCilia2012
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.
Article in Cilia, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 1 of them a synthesis that pooled it.
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
102 citing papers in PubMed, 1 synthesis or guideline pooled it, 148 citations in OpenAlex.
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- Functions and trafficking mechanisms of RIC-8 inMolecular biology of the cell · 2026Article
- L-DOPA Promotes Post-Treatment Neurovascular and Synaptic Homeostasis in Early Diabetic Retinopathy.Investigative ophthalmology & visual science · 2026Article
- L-DOPA treatment promotes sustained neurovascular and synaptic homeostasis in the diabetic retina.bioRxiv : the preprint server for biology · 2026Article
- Cell-specific roles for the conserved Galpha chaperone RIC-8 in cilia biology.bioRxiv : the preprint server for biology · 2026Article
- Visualization of photoreceptor outer segment renewal using AAV-delivered Dendra2-tagged rhodopsin.bioRxiv : the preprint server for biology · 2025Article
- Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development.Journal of cell science · 2025Article
- Novel photoreceptor-specific promoters for gene therapy in mid- to late-stage retinal degeneration.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation ofbioRxiv : the preprint server for biology · 2025Article
- Ciliary ARL13B Is Essential for Vision and Morphogenesis of Cone Outer Segments.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.bioRxiv : the preprint server for biology · 2025Article
- Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance.Communications biology · 2024Article
- AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model ofInternational journal of molecular sciences · 2024Article
- iU-ExM: nanoscopy of organelles and tissues with iterative ultrastructure expansion microscopy.Nature communications · 2023Article
- Article
- Abnormal centriolar biomarker ratios correlate with unexplained bull artificial insemination subfertility: a pilot study.Scientific reports · 2023Article
- Genome editing in the treatment of ocular diseases.Experimental & molecular medicine · 2023Review
- Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.International journal of molecular sciences · 2023Review
- Article
- Eupatilin improves cilia defects in human CEP290 ciliopathy models.bioRxiv : the preprint server for biology · 2023Article
42 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Ciliopathies encompass a broad array of clinical findings associated with genetic defects in biogenesis and/or function of the primary cilium, a ubiquitous organelle involved in the transduction of diverse biological signals. Degeneration or dysfunction of retinal photoreceptors is frequently observed in diverse ciliopathies. The sensory cilium in a photoreceptor elaborates into unique outer segment discs that provide extensive surface area for maximal photon capture and efficient visual transduction. The daily renewal of approximately 10% of outer segments requires a precise control of ciliary transport. Here, we review the ciliopathies with associated retinal degeneration, describe the distinctive structure of the photoreceptor cilium, and discuss mouse models that allow investigations into molecular mechanisms of cilia biogenesis and defects. We have specifically focused on two ciliary proteins - CEP290 and RPGR - that underlie photoreceptor degeneration and syndromic ciliopathies. Mouse models of CEP290 and RPGR disease, and of their multiple interacting partners, have helped unravel new functional insights into cell type-specific phenotypic defects in distinct ciliary proteins. Elucidation of multifaceted ciliary functions and associated protein complexes will require concerted efforts to assimilate diverse datasets from in vivo and in vitro studies. We therefore discuss a possible framework for investigating genetic networks associated with photoreceptor cilia biogenesis and pathology.
Identifiers
What OpenQuestion holds
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.