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Bardet-Biedl syndrome 4 (disorder)

Known as: BARDET-BIEDL SYNDROME 4, BBS4 
National Institutes of Health

Related topics

Related topics

13 relations
Abnormal renal morphologyAutosomal recessive inheritanceBrachydactylyCryptorchidism
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Broader (1)

Bardet-Biedl Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Autophagy Promotes Primary Ciliogenesis by Removing OFD1 from Centriolar Satellites
The primary cilium is a microtubule-based organelle that functions in sensory and signalling pathways. Defects in ciliogenesis… Expand
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Highly Cited
2013
Highly Cited
2013
Cycling of the signaling protein phospholipase D through cilia requires the BBSome only for the export phase
The BBSome, a regulator of ciliary membrane protein composition, is required only for the export phase of a process that… Expand
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Highly Cited
2010
Highly Cited
2010
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population
Background Bardet–Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and… Expand
Highly Cited
2008
Highly Cited
2008
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, including obesity and… Expand
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Highly Cited
2007
Highly Cited
2007
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
Primary cilia and basal bodies are evolutionarily conserved organelles that mediate communication between the intracellular and… Expand
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Highly Cited
2005
Highly Cited
2005
Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.
Necdin and Magel2 are related proteins inactivated in Prader-Willi syndrome (PWS), a sporadic chromosomal deletion disorder. We… Expand
Highly Cited
2004
Highly Cited
2004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease… Expand
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Highly Cited
2002
Highly Cited
2002
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy… Expand
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Highly Cited
2002
Highly Cited
2002
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity… Expand
Highly Cited
2001
Highly Cited
2001
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Bardet–Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary… Expand
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