Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

By S. J. Ansley, José L. Badano, O. Blacque, Josephine Hill, B. Hoskins, C. C. Leitch, Jun Chul Kim, A. Ross, E. Eichers, T. Teslovich and 7 more. Nature, 2003

714 citations recorded by the source corpus.

Subfields: Genetics, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/08139271f29bfa70c50cfe612cbb3c7ce286b02b

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In Genetics

1. Cori Bargmann

Citations in the corpus

• The Human Obesity Gene Map: The 2005 Update (2006, neutral): “1 BBS8 (89,90) 269700 Berardinelli-Seip congenital lipodystrophy 1 9q34.”
• A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. (2007, neutral): “Although current immunological reagents against BBS proteins have failed to detect BBS proteins inside the primary cilium of vertebrate cell lines (Ansley et al., 2003; Kim et al., 2004, 2005; M.V.N. and A.V.L., unpublished data), this is likely to reflect technical difficulties in the fixation and…”
• Chemosensation in C. elegans. (2006, background): “elegans cilium structure genes are orthologous to a human polycystic kidney disease gene and multiple human BBS disease genes, whose mutation leads to obesity, mental retardation, and other defects (Ansley et al., 2003; Blacque et al., 2004; Haycraft et al., 2001; Li et al., 2004; Qin et al., 2001).”