Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

@article{Kulaga2004LossOB,
  title={Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse},
  author={Heather M. Kulaga and Carmen C. Leitch and Erica R. Eichers and Jose L Badano and Alysa Lesemann and Bethan E. Hoskins and James R Lupski and Philip L. Beales and Randall R. Reed and Nicholas Katsanis},
  journal={Nature Genetics},
  year={2004},
  volume={36},
  pages={994-998}
}
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 individuals with BBS have partial or complete anosmia. To test whether this phenotype is… CONTINUE READING
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