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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|July 3, 2003
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locusJose L Badano, Jun Chul Kim, Bethan E Hoskins, et al.Scientific Reports|July 2, 2024
Impact of Bariatric Surgery on metabolic health in a Uruguayan cohort and the emerging predictive role of FSTL1Leonardo Santos, Mariana Patrone, Victoria Prieto-Echagüe, 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.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.Scientific Reports|February 16, 2018
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28BRossina Novas, Magdalena Cardenas-Rodriguez, Paola Lepanto, et al.Plos Genetics|June 2, 2022
Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypesMatías Fabregat, Sofía Niño-Rivero, Sabrina Pose, 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.American Journal of Human Genetics|April 5, 2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndromePhilip L Beales, Jose L Badano, Alison J Ross, 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.Pageof 4