ReviewCurrent medicinal chemistry2019
Ocular Ciliopathies: Genetic and Mechanistic Insights into Developing Therapies.
Review in Current medicinal chemistry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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.
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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
14 citing papers in PubMed.
- A Rare Association of Congenital Glaucoma and Retinitis Pigmentosa: A 22-Year Follow-Up Case.Cureus · 2026Article
- Exome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa.Molecular biology reports · 2025Article
- Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5BMC molecular and cell biology · 2025Article
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.Molecular vision · 2025Article
- Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.International journal of molecular sciences · 2024Article
- Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies.Molecular medicine (Cambridge, Mass.) · 2024Review
- ARL13B promotes angiogenesis and glioma growth by activating VEGFA-VEGFR2 signaling.Neuro-oncology · 2023Article
- Article
- Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.European journal of medical genetics · 2022Article
- A homozygous in-frame duplication within the LRRCT consensus sequence ofOphthalmic genetics · 2022Article
- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021Review
- Biallelic Variants inInternational journal of molecular sciences · 2021Article
- The Role of Primary Cilia in the Crosstalk between the Ubiquitin⁻Proteasome System and Autophagy.Cells · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Developing suitable medicines for genetic diseases requires a detailed understanding of not only the pathways that cause the disease, but also the identification of the genetic components involved in disease manifestation. This article focuses on the complexities associated with ocular ciliopathies - a class of debilitating disorders of the eye caused by ciliary dysfunction. Ciliated cell types have been identified in both the anterior and posterior segments of the eye. Photoreceptors (rods and cones) are the most studied ciliated neurons in the retina, which is located in the posterior eye. The photoreceptors contain a specialized lightsensing outer segment, or cilium. Any defects in the development or maintenance of the outer segment can result in severe retinal ciliopathies, such as retinitis pigmentosa and Leber congenital amaurosis. A role of cilia in the cell types involved in regulating aqueous fluid outflow in the anterior segment of the eye has also been recognized. Defects in these cell types are frequently associated with some forms of glaucoma. Here, we will discuss the significance of understanding the genetic heterogeneity and the pathogenesis of ocular ciliopathies to develop suitable treatment strategies for these blinding disorders.
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Registered trials
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