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… (More)
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2017
2017
PURPOSE To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin… (More)
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2017
2017
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans… (More)
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2016
2016
These abstracts are licensed under a Creative Commons Attribution-NonCommercial-No Derivatives 4.0 International License. Go to… (More)
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2015
2015
Primary cilia have been implicated in the generation of planar cell polarity (PCP). However, variations in the severity of… (More)
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2015
2015
In this study, we elucidated the architectures of two multisubunit complexes, the BBSome and exocyst, through a novel application… (More)
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2009
2009
This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The… (More)
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2006
2006
AbstractBBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)—an autosomal recessive condition… (More)
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Review
2005
Review
2005
Until recently, Bardet-Biedl syndrome was considered as a classic autosomal recessive condition. The disorder is defined by the… (More)
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Highly Cited
2003
Highly Cited
2003
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity… (More)
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