Cilia in cell signaling and human disorders
Open accessAbstract
One of the most widespread cellular organelles in nature is cilium, which is found in many unicellular and multicellular organisms. Formerly thought to be a mostly vestigial organelle, the cilium has been discovered in the past several decades to play critical motile and sensory roles involved in normal organogenesis during development. The role of cilia has also been implicated in an ever increasing array of seemingly unrelated human diseases, including blindness, kidney cysts, neural tube defects and obesity. In this article we review some of the recent developments in research on cilia, and how defects in ciliogenesis and function can give rise to developmental disorders and disease.
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Impaired Shh signaling results in similar phenotypes as those observed in patients with disrupted cilia structure or function.
“Impaired Shh signaling results in similar phenotypes as those observed in patients with disrupted cilia structure or function [37–42].”
From Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure (2018) · cites this paper as [40]
The Hedgehog section links cilia to Hedgehog signaling and says that this pathway contributes to development of the cerebellar vermis. The Ciliopathies section reports cerebellar vermis hypoplasia in patients with Joubert syndrome, a ciliopathy. These passages support a connection, but do not directly establish that impaired Shh signaling produces phenotypes similar to those observed in patients with disrupted cilia. (LLM, conf=0.78)
Experimental — accuracy not yet measuredAll ciliopathies share one phenotype, cognitive impairment.
“All ciliopathies share one phenotype, cognitive impairment [37–42].”
From Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure (2018) · cites this paper as [40]
The CILIOPATHIES section describes mental retardation as a classical feature of Joubert syndrome, which it identifies as a ciliopathy. It describes ciliopathies as a diverse group united by involvement of the cilium, not by cognitive impairment; it does not support the claim that all ciliopathies share that phenotype. No page number is available in our copy. (LLM, conf=0.87)
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Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia
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A Novel MAP Kinase Regulates Flagellar Length in Chlamydomonas
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OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
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Primary Cilia in Normal and Pathological Tissues
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Ftm is a novel basal body protein of cilia involved in Shh signalling
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The PCP Pathway Instructs the Planar Orientation of Ciliated Cells in the Xenopus Larval Skin
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Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease
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Primary Cilia Are Not Required for Normal Canonical Wnt Signaling in the Mouse Embryo
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Morphants: A New Systematic Vertebrate Functional Genomics Approach
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Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
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Xenopus, the next generation: X. Tropicalis genetics and genomics
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Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
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Jagged2a-Notch Signaling Mediates Cell Fate Choice in the Zebrafish Pronephric Duct
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A CDK-related kinase regulates the length and assembly of flagella in Chlamydomonas
Tam, L., Wilson, N. F., & Lefebvre, P. A. (2007) · The Journal of Cell Biology · doi:10.1083/jcb.200610022 · Cited by 125 · see citing works
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Iomini, C., Li, L., Esparza, J. M., & Dutcher, S. K. (2009) · Genetics · doi:10.1534/genetics.109.101915 · Cited by 117 · see citing works
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
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Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis
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Primary Cilia Regulate Branching Morphogenesis during Mammary Gland Development
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Flagellum Mutants of Chlamydomonas reinhardii
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Genetic analysis of long-flagella mutants of Chlamydomonas reinhardtii.
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An Essential Role for Dermal Primary Cilia in Hair Follicle Morphogenesis
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Dishevelled links basal body docking and orientation in ciliated epithelial cells
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Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene
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Genetic and genomic prospects for Xenopus tropicalis research
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Planar Polarity in the Ciliated Epidermis of Xenopus Embryos
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The cellular and developmental program connecting the centrosome and cilium duplication cycle
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Flagged first, then by citations
1 of the 137 references couldn’t be matched to a known paper.
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Evolution of modular intraflagellar transport from a coatomer-like progenitor
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Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure
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The role of primary cilia in the pathophysiology of neural tube defects
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Earliest ultrasound findings and description of splicing mutations in Meckel–Gruber syndrome
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Self-citationBARMR1/FAM92A1, a novel gene encoding BAR domain protein with multi-functions
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Mechanism of pancreatic and liver malformations in human fetuses with short‐rib polydactyly syndrome
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- Authors
- Duldulao, N. A., Li, J., & Sun, Z.
- Affiliations
- Yale University (US)
- Corresponding author
- Sun, Zhaoxia
- ORCID
- Sun, Zhaoxia
- Venue
- Protein & Cell
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-08
- Volume
- 1
- Issue
- 8
- Pages
- 726-736
- ISSN
- 1674-800X (ISSN-L)
- 1674-8018
- PMC
- PMC4875200
- OpenAlex
- W2041377808
- Cited by
- 13
- References
- 137
- Citations by year
- 2025: 1 · 2022: 1 · 2021: 1 · 2020: 1 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 1 · 2013: 1 · 2012: 3
- FWCI
- 0.17
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Protein & Cell (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (R01HL175156)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- cilia, ciliogenesis, signal transduction, motile cilia, sensory cilia, organogenesis, developmental disorders, ciliopathies, blindness, renal cysts, neural tube defects, obesity
- MeSH terms
- Abnormalities, Multiple, Animals, Cerebellar Diseases, Cilia, Flagella, Humans, Polycystic Kidney Diseases, Signal Transduction, Protein Transport, Models, Animal, Wnt Proteins, Hedgehog Proteins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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