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Search results 101 to 199 out of 199 for Bbs1

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0.023s
Type Details Score
Strain
Attribute String: congenic, gene trap, mutant strain
Publication
First Author: Su X
Year: 2014
Journal: Hum Mol Genet
Title: Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
Volume: 23
Issue: 20
Pages: 5441-51
Publication
First Author: McNally RS
Year: 2011
Journal: J Biol Chem
Title: DJ-1 enhances cell survival through the binding of Cezanne, a negative regulator of NF-kappaB.
Volume: 286
Issue: 6
Pages: 4098-106
Publication
First Author: Kaushik AP
Year: 2009
Journal: J Orthop Res
Title: Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.
Volume: 27
Issue: 8
Pages: 1093-9
Publication
First Author: Shah AS
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
Volume: 105
Issue: 9
Pages: 3380-5
Publication
First Author: Liu YP
Year: 2014
Journal: J Clin Invest
Title: Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Volume: 124
Issue: 5
Pages: 2059-70
Publication  
First Author: Brun A
Year: 2019
Journal: Exp Eye Res
Title: In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies.
Volume: 186
Pages: 107721
Publication  
First Author: Xie C
Year: 2022
Journal: JCI Insight
Title: Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies.
Volume: 7
Issue: 15
Publication  
First Author: Uytingco CR
Year: 2019
Journal: J Cell Sci
Title: BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia.
Volume: 132
Issue: 5
Publication
First Author: Zhang Q
Year: 2012
Journal: Hum Mol Genet
Title: BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.
Volume: 21
Issue: 9
Pages: 1945-53
Publication
First Author: Hsu Y
Year: 2020
Journal: Sci Rep
Title: The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina.
Volume: 10
Issue: 1
Pages: 8321
Publication
First Author: Yee LE
Year: 2015
Journal: PLoS Genet
Title: Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling.
Volume: 11
Issue: 11
Pages: e1005627
Publication
First Author: Ross AJ
Year: 2005
Journal: Nat Genet
Title: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Volume: 37
Issue: 10
Pages: 1135-40
Publication
First Author: Loktev AV
Year: 2008
Journal: Dev Cell
Title: A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
Volume: 15
Issue: 6
Pages: 854-65
Publication
First Author: Seo S
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
Volume: 107
Issue: 4
Pages: 1488-93
Publication
First Author: Zhang Q
Year: 2012
Journal: J Biol Chem
Title: Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
Volume: 287
Issue: 24
Pages: 20625-35
Publication
First Author: Zhang B
Year: 2017
Journal: J Biol Chem
Title: DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle.
Volume: 292
Issue: 4
Pages: 1351-1360
Publication
First Author: Wei Q
Year: 2012
Journal: Nat Cell Biol
Title: The BBSome controls IFT assembly and turnaround in cilia.
Volume: 14
Issue: 9
Pages: 950-7
Publication
First Author: Zhang Q
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
Volume: 108
Issue: 51
Pages: 20678-83
Publication
First Author: Forti E
Year: 2007
Journal: Int J Biochem Cell Biol
Title: Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis.
Volume: 39
Issue: 5
Pages: 1055-62
Publication
First Author: Yates LL
Year: 2010
Journal: Hum Mol Genet
Title: The planar cell polarity gene Vangl2 is required for mammalian kidney-branching morphogenesis and glomerular maturation.
Volume: 19
Issue: 23
Pages: 4663-76
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication      
First Author: NIH Mouse Knockout Inventory
Year: 2004
Journal: MGI Direct Data Submission
Title: Information obtained from the NIH Mouse Knockout Inventory
Publication      
First Author: The Jackson Laboratory Backcross DNA Panel Mapping Resource
Year: 1999
Journal: Database Release
Title: JAX BSS Panel Mapping Data
Publication        
First Author: Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom
Year: 2023
Title: Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity
Publication
First Author: Ko MS
Year: 2000
Journal: Development
Title: Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development.
Volume: 127
Issue: 8
Pages: 1737-49
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
Publication      
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication        
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication      
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication
First Author: Badano JL
Year: 2003
Journal: Am J Hum Genet
Title: Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
Volume: 72
Issue: 3
Pages: 650-8
Allele
Name: Bardet-Biedl syndrome 1; targeted mutation 2, Val C Sheffield
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
Allele  
Name: Bardet-Biedl syndrome 1; targeted mutation 1, Val C Sheffield
Allele Type: Targeted
Genotype
Symbol: Bbs1/Bbs1
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Bbs1/Bbs1 Tg(Pdgfra-cre)1Clc/?
Background: involves: 129S6/SvEvTac * C57BL/6
Zygosity: cn
Has Mutant Allele: true
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: human
Allele
Name: Bardet-Biedl syndrome 1; gene trap 1, Nicholas Katsanis
Allele Type: Gene trapped
Attribute String: Null/knockout
Genotype
Symbol: Bbs1/Bbs1
Background: involves: 129S7/SvEvBrd * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
Publication
First Author: Katsanis N
Year: 2002
Journal: Am J Hum Genet
Title: BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Volume: 71
Issue: 1
Pages: 22-9
Protein Domain
Type: Family
Description: Bardet-Biedl syndrome is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation []. Bardet-Biedl syndrome proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10) form the BBSome complex, which may function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. The ciliary trafficking function of BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [].Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. Of the 12 known BBS genes, BBS1 is the most commonly mutated [].This entry represents BBS4. It may participate in triallelic inheritance with BBS2 and BBS1 [].
Publication
First Author: Rahmouni K
Year: 2008
Journal: J Clin Invest
Title: Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
Volume: 118
Issue: 4
Pages: 1458-67
Publication
First Author: Romano S
Year: 2008
Journal: Int J Mol Med
Title: Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.
Volume: 21
Issue: 6
Pages: 731-6
Publication
First Author: Rabinovich-Nikitin I
Year: 2012
Journal: PLoS One
Title: Beneficial effect of antibodies against β- secretase cleavage site of APP on Alzheimer's-like pathology in triple-transgenic mice.
Volume: 7
Issue: 10
Pages: e46650
Publication
First Author: Dilan TL
Year: 2018
Journal: Hum Mol Genet
Title: Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.
Volume: 27
Issue: 2
Pages: 283-294
Publication
First Author: Chamling X
Year: 2013
Journal: PLoS One
Title: Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
Volume: 8
Issue: 3
Pages: e59101
Publication
First Author: Mykytyn K
Year: 2003
Journal: Am J Hum Genet
Title: Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Volume: 72
Issue: 2
Pages: 429-37
Protein Domain
Type: Family
Description: Bardet-Biedl syndrome is a member of genetic ciliopathies, but the link between cilia/centrosome deficits and metabolic abnormalities is not completely clear []. Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterised by many features, including retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. BBS genes play an important role in maintaining leptin sensitivity in proopiomelanocortin neurons []. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. Of the 12 known BBS genes, BBS1 is the most commonly mutated [].This group represents a Bardet-Biedl syndrome 7 protein.
Protein Domain
Type: Family
Description: Bardet-Biedl syndrome is a member of genetic ciliopathies, but the link between cilia/centrosome deficits and metabolic abnormalities is not completely clear []. Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterised by many features, including retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. BBS genes play an important role in maintaining leptin sensitivity in proopiomelanocortin neurons []. A relatively high incidence of BBS is found inthe mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. Of the 12 known BBS genes, BBS1 is the most commonly mutated [].This entry represents BBS2, which is required for leptin receptor signalling in the hypothalamus []. BBS2 and 4 are also required for the localisation of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia [].
Publication  
First Author: Guo DF
Year: 2023
Journal: Mol Metab
Title: The BBSome regulates mitochondria dynamics and function.
Volume: 67
Pages: 101654
Protein
Organism: Mus musculus/domesticus
Length: 715  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 47  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 715  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 673  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 520  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 520  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 150  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 673  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 715  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 715  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 721  
Fragment?: false
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication
First Author: Carninci P
Year: 2000
Journal: Genome Res
Title: Normalization and subtraction of cap-trapper-selected cDNAs to prepare full-length cDNA libraries for rapid discovery of new genes.
Volume: 10
Issue: 10
Pages: 1617-30
Publication  
First Author: Carninci P
Year: 1999
Journal: Methods Enzymol
Title: High-efficiency full-length cDNA cloning.
Volume: 303
Pages: 19-44
Publication
First Author: Shibata K
Year: 2000
Journal: Genome Res
Title: RIKEN integrated sequence analysis (RISA) system--384-format sequencing pipeline with 384 multicapillary sequencer.
Volume: 10
Issue: 11
Pages: 1757-71
Publication
First Author: Katayama S
Year: 2005
Journal: Science
Title: Antisense transcription in the mammalian transcriptome.
Volume: 309
Issue: 5740
Pages: 1564-6