Genetics of Human Bardet-Biedl Syndrome, an Updates.
Kohāt, Pakistan. In Clin Genet, Feb 2016
UNASSIGNED: Bardet-Biedl syndrome (BBS) is an autosomal recessive multi-systemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and hypogenitalism.
The BBSome controls IFT assembly and turnaround in cilia.
Rochester, United States. In Nat Cell Biol, 2012
From a whole-genome mutagenesis screen in Caenorhabditis elegans, we identified two hypomorphic mutations in dyf-2 and bbs-1 as the only mutants showing normal anterograde IFT transport but defective IFT turnaround at the ciliary tip.
Regulating intraflagellar transport.
Copenhagen, Denmark. In Nat Cell Biol, 2012
Bardet-Biedl syndrome (BBS) and IFT-A proteins are now implicated in regulation of IFT assembly at the ciliary base and tip.
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Gent, Belgium. In Hum Mutat, 2010
One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), nephronophthisis (NPHP), Joubert syndrome (related disorders) (JS[RD]), Bardet-Biedl syndrome (BBS), to the lethal Meckel-Grüber syndrome (MKS).