| Literature DB >> 19477114 |
Madeline A Lancaster1, Joseph G Gleeson.
Abstract
Genetic diseases known as ciliopathies have recently entered the limelight, placing new importance on a previously mysterious organelle: the primary cilium. Mutations affecting the primary cilium in both humans and animal models can lead to a plethora of distinct phenotypes including retinal degeneration, kidney cysts, and brain malformations. New findings are quickly lending insight into the functions of this cellular extension that seems to be especially important in modulation of subcellular signaling cascades at various stages of development and adult homeostasis.Entities:
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Year: 2009 PMID: 19477114 PMCID: PMC2953615 DOI: 10.1016/j.gde.2009.04.008
Source DB: PubMed Journal: Curr Opin Genet Dev ISSN: 0959-437X Impact factor: 5.578