Article
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Nature genetics - 1 Sept 2004
Kulaga Heather M, Leitch Carmen C, Eichers Erica R, Badano Jose L, Lesemann Alysa, Hoskins Bethan E, Lupski James R, Beales Philip L, Reed Randall R, Katsanis Nicholas
Abstract excerpt
Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease, nephronophthisis and hydrocephalus. We proposed that the pleiotropic phenotype of Bardet-Biedl syndrome (BBS), which encompasses retinal degeneration, truncal obesity, renal and limb malformations and developmental delay, is due to dysfunction of basal bodies and cilia. Here we show that...
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