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Bardet-Biedl syndrome 7

BBS7, BBS2L1, Bardet-Biedl syndrome 7
This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011] (from NCBI)
Top mentioned proteins: BBS, BBS1, BBS4, Kms, BBS8
Papers on BBS7
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).
Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.
New
Imyanitov et al., Saint Petersburg, Russia. In Mol Syndromol, Jul 2015
A homozygous c.1967_1968delTAinsC (p.Leu656fsX673; RefSeq NM_176824.2) mutation in BBS7 was identified in both affected children, while their healthy sibling and the non-consanguineous parents were heterozygous for this allele.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
New
Reymond et al., Lausanne, Switzerland. In Am J Hum Genet, Jun 2015
Overexpression of BBS7 rescues head size and neuroanatomical defects of kctd13 morphants, whereas suppression or overexpression of CEP290 rescues phenotypes induced by KCTD13 under- or overexpression, respectively.
Preclinical pharmacokinetic, biodistribution, imaging and therapeutic efficacy of (177)Lu-Labeled glycated bombesin analogue for gastrin-releasing peptide receptor-positive prostate tumor targeting.
New
Park et al., Taejŏn, South Korea. In Nucl Med Biol, Mar 2015
The present study describes the in vitro and in vivo preclinical characteristics of (177)Lu-DOTA-Lys(glucose)-4 aminobenzoic acid-BBS7-14 ((177)Lu-DOTA-gluBBN) to prepare radiolabeled candidates for the treatment of GRPR-expressing prostate tumors.
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.
Toda et al., Sakai, Japan. In Plos One, 2014
We also found 3 previously reported mutations in the BBS2 (p.R413X and p.R480X) and BBS7 (p.C243Y) genes in 2 patients.
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.
Slusarski et al., Iowa City, United States. In Dev Biol, 2014
Here, we examine interactions between a core PCP component, Prickle2 (Pk2), and a central BBS gene, Bbs7, using gene knockdown in the zebrafish.
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
Najmabadi et al., Tehrān, Iran. In J Hum Genet, 2014
Screening of the remaining patients for six other genes (BBS3, BBS4, BBS6, BBS7, BBS9 and BBS12) revealed five novel mutations.
[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa].
Sheng et al., China. In Zhonghua Yan Ke Za Zhi, 2014
A frameshift mutation on BBS7 gene was detected in No.2 pedigree, the patients of this pedigree combined with central obesity, polydactyly and mental handicap.
The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis.
Santama et al., Nicosia, Cyprus. In Cell Mol Life Sci, 2014
We document the normal ciliary recruitment, during these silencing regimes, of basal body proteins critical for ciliogenesis, namely CP110, CEP290, cenexin, Chibby, AurA, Rab8, and BBS7.
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
Sheffield et al., Iowa City, United States. In J Cell Sci, 2013
BBS7 is both a unique subunit of the BBSome and displays direct physical interaction with a second BBS complex, the BBS chaperonin complex.
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
Sheffield et al., Iowa City, United States. In J Biol Chem, 2012
Three additional BBS genes (BBS6, BBS10, and BBS12) have homology to type II chaperonins and interact with CCT/TRiC proteins and BBS7 to form a complex termed the BBS-chaperonin complex.
A genome-wide scan of selective sweeps in two broiler chicken lines divergently selected for abdominal fat content.
Li et al., Harbin, China. In Bmc Genomics, 2011
A number of genes in the significant core regions, including RB1, BBS7, MAOA, MAOB, EHBP1, LRP2BP, LRP1B, MYO7A, MYO9A and PRPSAP1, were detected.
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
GeneRIF
Héon et al., Toronto, Canada. In Hum Mutat, 2009
small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
GeneRIF
Xia et al., Beibei, China. In Mol Vis, 2007
This study describes a novel mutation in BBS7 causing Bardet-Biedl syndrome in a Chinese family.
[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.
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.
Review
Sheffield, Iowa City, United States. In Pediatr Res, 2004
The predicted BBS1, BBS2, BBS4, BBS7, and BBS8 gene products do not seem to be molecular chaperones, on the basis of a lack of sequence similarity to the chaperonin family of proteins.
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 a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
GeneRIF
Katsanis et al., Baltimore, United States. In Am J Hum Genet, 2003
A novel Bardet-Biedl syndrome protein is identified anad characterized.
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