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BARDET-BIEDL SYNDROME 8
Known as:
BBS8
National Institutes of Health
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Related topics
Related topics
12 relations
Autosomal recessive inheritance
Brachycephaly
Developmental 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
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice.
V. Kretschmer
,
S. Patnaik
,
F. Kretschmer
,
M. M. Chawda
,
Victor Hernandez-Hernandez
,
H. May-Simera
Investigative Ophthalmology and Visual Science
2019
Corpus ID: 85455955
Purpose Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function…
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2019
2019
Absence of BBSome function leads to astrocyte reactivity in the brain
Minati Singh
,
Janelle E Garrison
,
Kai Wang
,
V. Sheffield
Molecular Brain
2019
Corpus ID: 255978314
In humans, dysfunctional primary cilia result in Bardet-Biedl syndrome (BBS), which presents with clinical features including…
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2017
2017
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment
Ying Hsu
,
Janelle E Garrison
,
+7 authors
V. Sheffield
PLoS Genetics
2017
Corpus ID: 4702574
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans…
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2017
2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
A. Ullah
,
Muhammad Umair
,
+14 authors
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…
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Highly Cited
2015
Highly Cited
2015
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins
Yohei Katoh
,
Shohei Nozaki
,
David Hartanto
,
Rie Miyano
,
K. Nakayama
Journal of Cell Science
2015
Corpus ID: 31217480
ABSTRACT In this study, we elucidated the architectures of two multisubunit complexes, the BBSome and exocyst, through a novel…
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Highly Cited
2015
Highly Cited
2015
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea
H. May-Simera
,
R. Petralia
,
+7 authors
M. Kelley
Development
2015
Corpus ID: 82650
Primary cilia have been implicated in the generation of planar cell polarity (PCP). However, variations in the severity of…
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2009
2009
A functional and therapeutic investigation of ciliopathy proteins and ciliopathies
J. Tobin
2009
Corpus ID: 83429868
This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The…
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2006
2006
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
C. Stoetzel
,
V. Laurier
,
+7 authors
H. Dollfus
Journal of Human Genetics
2006
Corpus ID: 419869
AbstractBBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)—an autosomal recessive condition…
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Review
2005
Review
2005
[Update on Bardet-Biedl syndrome].
H. Dollfus
,
A. Verloes
,
+5 authors
J. Mandel
Journal Francais d'Ophtalmologie
2005
Corpus ID: 28964231
Highly Cited
2003
Highly Cited
2003
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
S. J. Ansley
,
J. Badano
,
+14 authors
N. Katsanis
Nature
2003
Corpus ID: 4310157
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity…
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