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BARDET-BIEDL SYNDROME 8

Known as: BBS8 
 
National Institutes of Health

Related topics

Related topics

12 relations
Autosomal recessive inheritanceBrachycephalyDevelopmental delay (disorder)Hypogonadism
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Broader (1)

Bardet-Biedl Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Absence of BBSome function leads to astrocyte reactivity in the brain
In humans, dysfunctional primary cilia result in Bardet-Biedl syndrome (BBS), which presents with clinical features including… Expand
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2019
2019
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice.
Purpose Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function… Expand
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2017
2017
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans… Expand
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2017
2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
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
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins
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
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea
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
A functional and therapeutic investigation of ciliopathy proteins and ciliopathies
This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The… Expand
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2006
2006
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
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
[Update on Bardet-Biedl syndrome].
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
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity… Expand
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