Property Summary

NCBI Gene PubMed Count 54
PubMed Score 53.44
PubTator Score 51.22

Knowledge Summary

Patent

No data available

Expression

Protein-protein Interaction (12)

Gene RIF (26)

PMID Text
26254420 BBS1 emerged as a novel predictor of overall survival in MPM.
26103456 M390R mutation in BBS1 reduces surface expression of insulin receptor in fibroblasts derived from BBS patients.
26022370 We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4.
25494902 A homozygous BBS1 p.M390R mutation is associated with Bardet-Biedl syndrome.
24939912 Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1.
24691443 loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment.
24681783 mediates endosomal recycling, sorting and signal transduction of Notch receptors
24611735 Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations.
24611592 novel BBS1 mutations in Bardet-Biedl syndrome patients in Spain
23559858 Exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1.
23432027 Novel mutations (c.1110G>A and c.39delA (p.G13fs*41)) in BBS1 found in Tunisian families with Bardet-Biedl syndrome.
23143442 Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS.
22940089 Our findings confirm the consistent pathogenicity of the BBS1 M390R mutation in Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
22410627 Patients with BBS1 mutations had a milder phenotype than did patients with mutations in other BBS genes.
21520335 this report describes the identification and characterization of a splice donor site mutation that leads to missplicing of BBS1 transcripts in Bardet-Biedl syndrome.
20801516 Observational study of genetic testing. (HuGE Navigator)
19077438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18766993 Although neither proband fulfilled the typical criteria for BBS, this diagnosis was confirmed on mutation analysis.
18669544 A novel BBS1 mutation was identified, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate.
17065520 The cardinal feature of retinal degeneration in BBS1 can show a wide spectrum of disease expression.
15517396 disease-associated alleles occur at relatively high frequencies in normal haplotypes
14993910 Observational study of gene-disease association. (HuGE Navigator)
12837689 The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype.
12677556 BBS1 participates in complex inheritance and in different families, mutations in BBS1 can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype
12567324 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with this protein.
12524598 This protein has amino acid sequence homolgy with mice. Missense mutation accounts for about 80% of all BBS1 mutations on a similar genetic background across populations.

AA Sequence

MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKV      1 - 70
LKGPLVMTESPLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWN     71 - 140
QAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNL    141 - 210
ADEDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSK    211 - 280
HPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGL    281 - 350
ANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGGSEVGPPPA    351 - 420
QAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLSTTAREPLKLHA    421 - 490
VVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGI    491 - 560
SDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA                                         561 - 593
//

Text Mined References (60)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26254420 2015 Computational genomic analysis of PARK7 interactome reveals high BBS1 gene expression as a prognostic factor favoring survival in malignant pleural mesothelioma.
26103456 2015 Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.
26022370 2015 Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
25494902 2014 Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
24939912 2014 Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
24691443 2014 Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
24681783 2014 Basal body proteins regulate Notch signaling through endosomal trafficking.
24611735 2015 Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
24611592 2014 Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
24550735 2014 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
23943788 2014 BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
23559858 2013 Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
23432027 2014 Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
23143442 2012 BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
22940089 2012 Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.
22302990 2012 Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
22228099 2012 BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.
22139371 2011 Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
22072986 2011 A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
21520335 2011 U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20603001 2010 The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.
20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19150989 2009 Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
19077438 2009 Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
18766993 2008 Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.
18762586 2008 Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.
18669544 2009 A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.
18000879 2008 Novel interaction partners of Bardet-Biedl syndrome proteins.
17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.
17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
17065520 2006 Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16327777 2006 Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
15517396 2005 Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15314642 2004 Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
14993910 2004 Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12920096 2003 Further support for digenic inheritance in Bardet-Biedl syndrome.
12837689 2003 Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
12567324 2003 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
12524598 2003 Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
11096143 2000 Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.
10577922 1999 A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.
10577921 1999 Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
9039982 1997 Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.