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Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling jeune syndrome

Miller, Kerry A; Ah-Cann, Casey J; Welfare, Megan F; Tan, Tiong Y; Pope, Kate; Caruana, Georgina; Freckmann, Mary-Louise; Savarirayan, Ravi; Bertram, John F; Dobbie, Michael S; Bateman, John F; Farlie, Peter G


Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis. There are two broad categories of cilia; motile and non-motile, or primary, cilia. The central role of primary cilia in health and disease has become prominent in the past decade with the recognition of a number of human syndromes that result from defects in the formation or function of primary cilia....[Show more]

CollectionsANU Research Publications
Date published: 2013-08-29
Type: Journal article
Source: PLoS Genetics
DOI: 10.1371/journal.pgen.1003746


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