Ziliopathien

Translated title of the contribution: Ciliopathies

P. C. Harris, P. G. Czarnecki

Research output: Contribution to journalReview articlepeer-review

Abstract

Cilia fulfil many different functions: they serve as mechano-, chemo- and osmo-sensors and play an important role in many signaling pathways in terms of adequate organ development, maintaining tissue homeostasis and basic development processes. Most cell types in the body possess primary cilia, while motile cilia are found mainly in the respiratory tract, ependyma lining the brain ventricles and tubal epithelia. When cilia lose their function, the resulting diseases are described as ciliopathies. The present article discusses some of these diseases, including primary ciliary dyskinesia (PCD) and polycystic kidney disease (PKD), in particular autosomal-dominant PKD (ADPKD). In addition, we discuss the genes identified to date which play a role in the pathogenesis of ciliopathies. Many of these gene mutations cause more than one disease, and many of the characteristics mentioned are found in various diseases.

Translated title of the contributionCiliopathies
Original languageGerman
Pages (from-to)14-20
Number of pages7
JournalMedizinische Genetik
Volume21
Issue number1
DOIs
StatePublished - Mar 1 2009

Keywords

  • Ciliopathies
  • Motile cilia
  • Polycystic kidney disease (PKD)
  • Primary cilia
  • Primary ciliary dyskinesia (PCD)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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