Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
J Med Genet. 2008 May;45(5):257-67. doi: 10.1136/jmg.2007.054999. Epub 2008 Jan 4.

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies.

Author information

  • 1Section of Opthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.

Abstract

Primary cilia have a broad tissue distribution and are present on most cell types in the human body. Until recently, they were considered to be redundant organelles, but progress over the past 5 years has led to an understanding of their role in normal mammalian development. The class of inherited disorders that involve aberrant ciliary function are known as ciliopathies, and although their range of severity can vary, they share some common and unexpected clinical phenotypes. The aim of this review is to assess recent insights into the structure, function and formation of primary cilia, and relate this to the pathology, molecular genetics and cell biology of the ciliopathies.

PMID:
18178628
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk