Document Detail

Assessing PCP in the Cochlea of Mammalian Ciliopathy Models.
MedLine Citation:
PMID:  22218906     Owner:  NLM     Status:  In-Data-Review    
The increased availability of mouse models of human genetic ciliary diseases has led to advances in our understanding of the diverse cellular roles played by cilia. The family of so-called "ciliopathies" includes Alström Syndrome, Bardet-Biedl Syndrome, Primary Ciliary Dyskinesia, and Polycystic Kidney Disease, among many others. In mouse models of Alström Syndrome and Bardet-Biedl Syndrome, we have shown developmental defects in the mechano-sensory stereociliary bundles on the apical surfaces of "hair" cells in the cochlea, the mammalian hearing organ. Stereocilia are specialized actin-based microvilli, whose characteristic patterning is thought to be dependent on the hair cell's primary cilium ("kinocilium"). Ciliopathy-associated proteins are localized to the ciliary axoneme and/or the ciliary basal body, or to the bundle itself. Ciliopathy-associated genes functionally interact with genes of the noncanonical Wnt pathway, and so implicate PCP in the control of hair cell development.
Daniel J Jagger; Andrew Forge
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Methods in molecular biology (Clifton, N.J.)     Volume:  839     ISSN:  1940-6029     ISO Abbreviation:  Methods Mol. Biol.     Publication Date:  2012  
Date Detail:
Created Date:  2012-01-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9214969     Medline TA:  Methods Mol Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  239-48     Citation Subset:  IM    
Centre for Auditory Research, UCL Ear Institute, University College London, London, UK,
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