Ciliopathies and Zebrafish as model organism

Author: N. Katsanis
Submitted: Sunday 12th of September 2010 07:53:28 AM
Submitted by: egf
Educational levels: expert, qc3

Abstract

The ciliopathies are a group of genetically heterogeneous but clinically overlapping disorders that are caused by structural and/or functional defects in the cilium and the basal body. Recent progress in elucidating the genetic and cellular etiology of these disorders is emphasizing the importance of cilia to mammalian cells and providing sometimes unexpected clues about how they communicate with the extracellular environment. Using Bardet-Biedl syndrome as a model ciliopathy, we will discuss how improved genetic and functional models for this disorder are illuminating new roles for the mammalian cilium, which in turn equip us with improved tools to dissect epistatic interactions that govern the penetrance and expressivity of most disease phenotypes.

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Citation

N. Katsanis. Ciliopathies and Zebrafish as model organism . EUROGENE portal. September 2010. online: http://eurogene.open.ac.uk/content/ciliopathies-and-zebrafish-model-organism

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