Cited by 911Genetic and Kidney Cyst DiseasesCystic Fibrosis Research AdvancesHedgehog Signaling Pathway Studies

The DOI matches its Crossref record; 307 of the 307 references it cites were found in a registry or an index; 187 of the 312 sources its claims cite were checked for support.

Cellular signalling by primary cilia in development, organ function and disease

Open access

Abstract

Primary cilia project in a single copy from the surface of most vertebrate cell types; they detect and transmit extracellular cues to regulate diverse cellular processes during development and to maintain tissue homeostasis. The sensory capacity of primary cilia relies on the coordinated trafficking and temporal localization of specific receptors and associated signal transduction modules in the cilium. The canonical Hedgehog (HH) pathway, for example, is a bona fide ciliary signalling system that regulates cell fate and self-renewal in development and tissue homeostasis. Specific receptors and associated signal transduction proteins can also localize to primary cilia in a cell type-dependent manner; available evidence suggests that the ciliary constellation of these proteins can temporally change to allow the cell to adapt to specific developmental and homeostatic cues. Consistent with important roles for primary cilia in signalling, mutations that lead to their dysfunction underlie a pleiotropic group of diseases and syndromic disorders termed ciliopathies, which affect many different tissues and organs of the body. In this Review, we highlight central mechanisms by which primary cilia coordinate HH, G protein-coupled receptor, WNT, receptor tyrosine kinase and transforming growth factor-β (TGFβ)/bone morphogenetic protein (BMP) signalling and illustrate how defects in the balanced output of ciliary signalling events are coupled to developmental disorders and disease progression.This Review describes the main signalling pathways that are coordinated by primary cilia to control developmental processes, tissue plasticity and organ function and how defects in the output of ciliary signalling events are coupled to developmental disorders and disease progression.Key pointsPrimary cilia emanate in a single copy from the centrosomal mother centriole (basal body) at the surface of most vertebrate cell types.Primary cilia possess a unique lipid and receptor composition and detect and convey extracellular cues to control cellular processes during development and in tissue homeostasis.Current evidence suggests that primary cilia coordinate a variety of signalling pathways, including those regulated by Hedgehog (HH), G protein-coupled receptors (GPCRs), WNT, receptor tyrosine kinases (RTKs) and transforming growth factor-β (TGFβ)/bone morphogenetic protein (BMP), to control developmental processes, tissue plasticity and organ function.The ability of primary cilia to balance the output of cellular signalling is dynamic and relies on the differentiation state and microenvironment of the cell.Dysfunction of primary cilia underlies a pleiotropic group of diseases and syndromic disorders termed ciliopathies, affecting many different organs in the body.Mechanistic insight into ciliary coordination of spatiotemporal signalling networks is critical for understanding the aetiology of ciliopathies and for the discovery of novel ciliopathy disease genes and drug targets.

Overview

Integrity signals

Registry

Crossref · 10.1038/s41581-019-0116-9

Cites

307 of 307 references verified0 citation errors · 0 not checkable

Statistics

Nothing to recompute.

Verification

Claims the paper makes

69 Partly supported · 44 No full text of the sources · 33 Couldn’t confirm · 31 Own interpretation · 13 No basis given · 8 Supported · 7 Supported so far · 3 Sources not found · 2 Not supported · 2 Not checked yet · 1 Mixed support · accuracy not yet measured

Show all 121 claims

  • It may state two separate claims as one. 83
  • Borderline: one of the tests for a substantial claim is unclear. 1
  • Probably not a substantial claim. 14
92 of 92
  • The paper relies on this without support.

    Cilia cannot synthesize proteins.

    “Cilia are unable to synthesize proteins; therefore, cilia-associated transport pathways also function during cilium biogenesis and maintenance by delivering the building blocks required for ciliary axoneme and”
  • The paper relies on this without support.

    Proper functioning of PC1 and PC2 requires their appropriate targeting to the ciliary compartment.

    “It is generally accepted that proper functioning of PC1 and PC2 relies on their appropriate targeting to the ciliary compartment, but the precise mechanism by which the polycystins function at cilia to prevent cyst formation and control left-right patterning during development is a matter of intense”
  • The paper relies on this without support.

    Findings from cultured cells and mouse models can be extrapolated to human development and disease.

    “Young Bbs4-knockout mice demonstrate impaired glucose handling before the onset of obesity, and ciliary dysfunction induced by knockdown of BBS4 or oral-facial-digital syndrome 1 protein (OFD-1) attenuates first-phase insulin secretion in pancreatic islet cells independent of glucose metabolism 235.”
  • The paper relies on this without support.

    Primary cilia are present on most cell types, but not all cell types in a given tissue or organ will be ciliated.

    “Cilia are present on most cell types, but not all cell types in a given tissue or organ will be ciliated.”
4 of 4

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Citations

Cites

Research works printed but not linked: 2

  1. Crudden, C. et al. in International Review of Cell and Molecular Biology Vol. 339. (ed. Shukla, A. K.) 1–40 (Academic Press, 2018).
  2. Vestergaard, M. L., Awan, A., Warzecha, C. B., Christensen, S. T. & Andersen, C. Y. in Human Embryonic Stem Cell Protocols (ed. Turksen, K.) 123–140 (Springer, NY, 2016).

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Metadata

Authors
Anvarian, Z., Mykytyn, K., Mukhopadhyay, S., Pedersen, L. B., & Christensen, S. T.
Affiliations
  • University of Copenhagen (DK)
  • The Ohio State University (US)
  • The University of Texas Southwestern Medical Center (US)
Corresponding author
Christensen, Søren Tvorup
Venue
Nature Reviews Nephrology
Published
2019-02-07
Volume
15
Issue
4
Pages
199-219
ISSN
  • 1745-8323 (ISSN-L)
  • 1759-5061
  • 1759-507X
OpenAlex
W2913985590
Cited by
845
References
307
Citations by year
2026: 86 · 2025: 165 · 2024: 127 · 2023: 135 · 2022: 122 · 2021: 112 · 2020: 72 · 2019: 24
FWCI
10.95
Type
journal article
Language
en
Open access
Locations
  • Nature Reviews Nephrology (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Lundbeckfonden (R54-2010-5375)
  • Novo Nordisk Fonden (NNF15OC0016886, NNF18OC0053024, NNF14OC0011535)
  • National Institutes of Health (R01‐grant)
  • National Institute of Mental Health (R21MH107021)
  • National Institute of General Medical Sciences (R01GM113023)
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 › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Hedgehog Signaling Pathway Studies
Keywords
primary cilia, Hedgehog signaling, ciliopathies, G protein-coupled receptor signaling, Wnt signaling, receptor tyrosine kinase signaling, signal transduction, tissue homeostasis, developmental disorders
MeSH terms
Cell Differentiation, Cell Movement, Cilia, Ciliary Motility Disorders, Homeostasis, Humans, Signal Transduction, Organogenesis, Hedgehog Proteins

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