Gene Symbol: bbs9
Description: Bardet-Biedl syndrome 9
Alias: protein PTHB1
Tayeh M, Yen H, Beck J, Searby C, Westfall T, Griesbach H, et al
. Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet. 2008;17:1956-67 pubmed publisher
..This study reveals an in vivo requirement for BBS function in limb bud patterning. Our results provide important new insights into the mechanism and biological significance of BBS. ..
Zaghloul N, Liu Y, Gerdes J, Gascue C, Oh E, Leitch C, et al
. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A. 2010;107:10602-7 pubmed publisher
..Importantly, superimposition of these results to human genetics data suggests a previously underappreciated complexity in disease architecture that might be shared among diverse clinical phenotypes. ..
Veleri S, Bishop K, Dalle Nogare D, English M, Foskett T, Chitnis A, et al
. Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. PLoS ONE. 2012;7:e34389 pubmed publisher
..Though BBS9 (also known as PTHB1) is reportedly a component of BBSome, its direct function has not yet been elucidated...
Christou Savina S, Beales P, Osborn D. Evaluation of zebrafish kidney function using a fluorescent clearance assay. J Vis Exp. 2015;:e52540 pubmed publisher
Lindstrand A, Frangakis S, Carvalho C, Richardson E, McFadden K, Willer J, et al
. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016;99:318-36 pubmed publisher
..5%), including 13 different deletions in eight BBS genes (BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, BBS9, and NPHP1) and a deletion and a duplication in other ciliopathy-associated genes (ALMS1 and NPHP4, respectively)...