Evidence map›Paper›PMID 32747192›Full record

ReviewSeminars in cell & developmental biology2021

Primary cilia biogenesis and associated retinal ciliopathies.

Holly Y Chen, Ryan A Kelley, Tiansen Li, Anand Swaroop

Open access · hybridAbstract readReview
In one paragraph

Review in Seminars in cell & developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.

0numbers the graph read from it
0cells of the map it votes in
79citing papers in PubMed
10.8field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

79 citing papers in PubMed, 111 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Ciliary Defects in Inherited Retinal Diseases.Advanced genetics (Hoboken, N.J.) · 2026
    Review
  10. Studies of mice with a large deletion of the ARPKD-associatedbioRxiv : the preprint server for biology · 2026
    Article
  11. Article
  12. Article
  13. A human-specificMolecular therapy. Nucleic acids · 2025
    Article
  14. The exocyst in ciliogenesis.Renal failure · 2025
    Review
  15. Review
  16. Article
  17. Review
  18. Foxn3 is required to suppress aberrant ciliogenesis in nonphotoreceptor retinal neurons.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  19. Review
  20. Article

19 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Holly Y ChenNeurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD 20892, USA. Electronic address: holly.chen@nih.gov.
Ryan A KelleyNeurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD 20892, USA.
Tiansen LiNeurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD 20892, USA.
Anand SwaroopNeurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD 20892, USA. Electronic address: swaroopa@nei.nih.gov.
National Eye Institute · USNational Institutes of Health · US

Funding

Regulation of retinal developmentZIAEY000450 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2009 to 2025
$71.0M
Mechanisms, modeling and therapies of retinal and macular neurodegenerationZIAEY000546 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2015 to 2025
$36.3M
Disease mechanism and therapies for retinal degenerationZIAEY000490 · NEI · NATIONAL EYE INSTITUTE · PI LI, TIANSEN · 2010 to 2025
$30.4M
Interventional approaches for restoring visionZIAEY000474 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2009 to 2019
$15.5M
Intramural NIH HHS ZIA EY000450Intramural NIH HHS ZIA EY000474Intramural NIH HHS ZIA EY000490Intramural NIH HHS ZIA EY000546
6 · The paper itself

Abstract

The primary cilium is a ubiquitous microtubule-based organelle that senses external environment and modulates diverse signaling pathways in different cell types and tissues. The cilium originates from the mother centriole through a complex set of cellular events requiring hundreds of distinct components. Aberrant ciliogenesis or ciliary transport leads to a broad spectrum of clinical entities with overlapping yet highly variable phenotypes, collectively called ciliopathies, which include sensory defects and syndromic disorders with multi-organ pathologies. For efficient light detection, photoreceptors in the retina elaborate a modified cilium known as the outer segment, which is packed with membranous discs enriched for components of the phototransduction machinery. Retinopathy phenotype involves dysfunction and/or degeneration of the light sensing photoreceptors and is highly penetrant in ciliopathies. This review will discuss primary cilia biogenesis and ciliopathies, with a focus on the retina, and the role of CP110-CEP290-CC2D2A network. We will also explore how recent technologies can advance our understanding of cilia biology and discuss new paradigms for developing potential therapies of retinal ciliopathies.

Indexed as

AnimalsAntigens, NeoplasmBiological TransportCell Cycle ProteinsCentriolesCiliaCiliopathiesCytoskeletal ProteinsDisease Models, AnimalGene Expression RegulationHumansLight Signal TransductionMiceMicrotubule-Associated ProteinsMicrotubulesPhosphoproteinsAntigens, NeoplasmCC2D2A protein, humanCCP110 protein, humanCell Cycle ProteinsCep290 protein, humanCytoskeletal ProteinsMicrotubule-Associated ProteinsPhosphoproteinsCEP290CiliogenesisIntracellular transportPhotoreceptorRetinal degenerationSensory cilia

Identifiers

PMID32747192
PMCPMC7855621
OpenAlexW3046626682

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.