Gene Symbol: bbs7
Description: Bardet-Biedl syndrome 7
Alias: id:ibd5048, zgc:153772, Bardet-Biedl syndrome 7 protein
Yen H, Tayeh M, Mullins R, Stone E, Sheffield V, Slusarski D. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet. 2006;15:667-77 pubmed
..Knockdown of zebrafish bbs2, bbs4, bbs5, bbs6, bbs7 or bbs8 results in disruption of Kupffer's vesicle (KV), a ciliated organ thought to play a role in left-right ..
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. ..
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. ..
Balciuniene J, Nagelberg D, Walsh K, Camerota D, Georlette D, Biemar F, et al
. Efficient disruption of Zebrafish genes using a Gal4-containing gene trap. BMC Genomics. 2013;14:619 pubmed publisher
..These features, together with utility as highly specific Gal4 drivers, make gene trap mutants presented here especially useful to the research community. ..
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, ..
Blacque O, Leroux M. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci. 2006;63:2145-61 pubmed
..From these discoveries, a common theme has emerged, namely that the primary function of BBS proteins may be to mediate and regulate microtubule-based intracellular transport processes. ..
Davis E, Zhang Q, Liu Q, Diplas B, Davey L, Hartley J, et al
. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011;43:189-96 pubmed publisher
Mei X, Westfall T, Zhang Q, Sheffield V, Bassuk A, Slusarski D. Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. Dev Biol. 2014;392:245-55 pubmed publisher
..Here, we examine interactions between a core PCP component, Prickle2 (Pk2), and a central BBS gene, Bbs7, using gene knockdown in the zebrafish...