reviewNew England Journal of MedicineApr 20, 2011GREEN OA

Ciliopathies

FHFriedhelm HildebrandtTBThomas BenzingNKNicholas Katsanis

Howard Hughes Medical Institute · Michigan Medicine · +4 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

A ciliopathy is a disease in which a hairlike cellular organelle called the cilium is dysfunctional. Most proteins altered in these single-gene disorders function at the level of the cilium–centrosome complex. This review considers the role of the cilium in disease.

Citation impact

1,353
total citations
FWCI
60.20
Percentile
100%
References
81
Citations per year

Authors

3

Topics & keywords

Topics
Keywords
  • Ciliopathies
  • Cilium
  • Ciliopathy
  • Organelle
  • Medicine
  • Ciliogenesis
  • Centrosome
  • Function (biology)
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