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Nature Genetics|August 24, 2004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouseHeather M Kulaga, Carmen C Leitch, Erica R Eichers, et al.Human Molecular Genetics|June 21, 2019
Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypesJessica E Nesmith, Timothy L Hostelley, Carmen C Leitch, et al.Proceedings of the National Academy of Sciences of the United States of America|May 26, 2010
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndromeNorann A Zaghloul, Yangjian Liu, Jantje M Gerdes, et al.The Journal of Clinical Investigation|April 3, 2014
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediatorsYangfan P Liu, I-Chun Tsai, Manuela Morleo, et al.Journal of Cell Science|February 26, 2005
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesisJun Chul Kim, Young Y Ou, Jose L Badano, et al.Nature Genetics|October 2, 2007
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt responseJantje M Gerdes, Yangfan Liu, Norann A Zaghloul, et al.Nature Genetics|April 27, 2004
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progressionJun Chul Kim, Jose L Badano, Sonja Sibold, et al.Plos Genetics|March 29, 2008
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexesChunmei Li, Peter N Inglis, Carmen C Leitch, et al.Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.Hepatology (Baltimore, Md.)|December 28, 2016
TM6SF2 rs58542926 impacts lipid processing in liver and small intestineElizabeth A O'Hare, Rongze Yang, Laura M Yerges-Armstrong, et al.Pageof 4