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BARDET-BIEDL SYNDROME 8

Known as: BBS8 
National Institutes of Health

Papers overview

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2019
2019
Purpose Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function… 
2019
2019
In humans, dysfunctional primary cilia result in Bardet-Biedl syndrome (BBS), which presents with clinical features including… 
2017
2017
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans… 
2017
2017
  • A. UllahMuhammad Umair W. Ahmad
  • Molecular Vision
  • 2017
  • Corpus ID: 4878693
Purpose To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin… 
Highly Cited
2015
Highly Cited
2015
ABSTRACT In this study, we elucidated the architectures of two multisubunit complexes, the BBSome and exocyst, through a novel… 
Highly Cited
2015
Highly Cited
2015
Primary cilia have been implicated in the generation of planar cell polarity (PCP). However, variations in the severity of… 
2009
2009
This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The… 
2006
2006
AbstractBBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)—an autosomal recessive condition… 
Review
2005
Review
2005
Highly Cited
2003
Highly Cited
2003
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity…