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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Bardet-Biedl syndrome 1

BBS1, BbsI
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: BBS, BBS4, HAD, CAN, Kms
Papers using BBS1 antibodies
NMR-Assisted Prediction of RNA Secondary Structure: Identification of a Probable Pseudoknot in the Coding Region of an R2 Retrotransposon
Supplier
Turner Douglas H. et al., In Journal of the American Chemical Society, 1995
... After linearizing the plasmid with BbsI restriction endonuclease (New England Biolabs, Inc.), the RNA was ...
Papers on BBS1
Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes.
New
Zaghloul et al., Baltimore, United States. In Hum Mol Genet, Feb 2016
Loss of the Alstrom gene, alms1, resulted in a significant decrease in β-cell production whereas loss of BBS genes, bbs1 or bbs4, resulted in a significant increase.
Effect of leg selection on the Berg Balance Scale scores of hemiparetic stroke survivors: A cross sectional study.
New
Ng et al., Hong Kong, Hong Kong. In Arch Phys Med Rehabil, Jan 2016
Fewer participants received a maximum score with the BBS1 formulation than the others.
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
New
Ozkinay et al., İzmir, Turkey. In Eur J Med Genet, Dec 2015
In this study, 15 patients with clinically diagnosed BBS were investigated using a next generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1).
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.
New
Park et al., Seoul, South Korea. In Diabetes Metab J, Oct 2015
Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome is caused by mutations in BBS1-16 genes.
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.
Toda et al., Sakai, Japan. In Plos One, 2014
The causative genes have been identified as BBS1-19.
Update on the genetics of bardet-biedl syndrome.
Review
Chaabouni-Bouhamed et al., Tunisia. In Mol Syndromol, 2014
BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described.
[Current status and implication of research on Bardet-Biedl syndrome].
Review
Xiao et al., Kunming, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2013
To date, 16 BBS genes (BBS1-BBS16) have been identified.
Genotype-phenotype correlations in Bardet-Biedl syndrome.
GeneRIF
Berson et al., Boston, United States. In Arch Ophthalmol, 2012
Patients with BBS1 mutations had a milder phenotype than did patients with mutations in other BBS genes.
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
GeneRIF
Neidhardt et al., Zürich, Switzerland. In Hum Mutat, 2011
this report describes the identification and characterization of a splice donor site mutation that leads to missplicing of BBS1 transcripts in Bardet-Biedl syndrome.
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex.
Impact
Sawa et al., Baltimore, United States. In Nature, 2011
In support of this model, loss of BBS1 leads to defects in migration, but not proliferation, whereas DISC1 knockdown leads to deficits in both.
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.
GeneRIF
Rosenberg et al., Glostrup, Denmark. In Br J Ophthalmol, 2009
A novel BBS1 mutation was identified, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate.
[Bardet-Biedl syndrome].
Review
Lacombe et al., Bordeaux, France. In Ann Endocrinol (paris), 2008
To date, mutations in 12 different genes (BBS1 to BBS12) are responsible for this phenotype.
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.
GeneRIF
Lloyd et al., Manchester, United Kingdom. In Ophthalmic Genet, 2008
Although neither proband fulfilled the typical criteria for BBS, this diagnosis was confirmed on mutation analysis.
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
GeneRIF
Welsh et al., Iowa City, United States. In Proc Natl Acad Sci U S A, 2008
Although BBS proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1, Bbs2, Bbs4, and Bbs6 mutant mice.
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.
Impact
Katsanis et al., Baltimore, United States. In Nat Genet, 2007
Here we show that bbs1, bbs4 and mkks (also known as bbs6), which encode basal body proteins, are required for convergence and extension in zebrafish and interact with wnt11 and wnt5b.
[Update on Bardet-Biedl syndrome].
Review
Mandel et al., Strasbourg, France. In J Fr Ophtalmol, 2005
To date, six different genes have been identified: BBS1, BBS2, BBS4, BBS6, BBS7 and BBS8.
Bardet-Biedl Syndrome
Review
Beales et al., Seattle, United States. In Unknown Journal, 2003
At least 19 genes are associated with BBS: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15), SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1 (BBS18), and IFT27 (BBS19).
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Impact
Sheffield et al., Iowa City, United States. In Nat Genet, 2002
What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13 p12 (BBS3), 15q22.3
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Impact
Sheffield et al., Iowa City, United States. In Nat Genet, 2001
Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Impact
Lupski et al., Houston, United States. In Nat Genet, 2000
We performed a genome screen with BBS families from Newfoundland that were excluded from BBS1-5 and identified linkage with D20S189.
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