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BARDET-BIEDL SYNDROME 8

Known as: BBS8 
 
National Institutes of Health

Papers overview

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2019
2019
In humans, dysfunctional primary cilia result in Bardet-Biedl syndrome (BBS), which presents with clinical features including… Expand
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2019
2019
Purpose Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function… Expand
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2017
2017
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans… Expand
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2017
2017
Purpose To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin… Expand
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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… Expand
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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… Expand
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2009
2009
This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The… Expand
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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… Expand
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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… Expand
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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… Expand
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