Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
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The dynamic cilium in human diseasesGenomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary propertiesJumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic EpidemiologyThe interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaBBardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesBBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypesIntrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSomeTRIM32 is an E3 ubiquitin ligase for dysbindinLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaThe TRIM-NHL protein TRIM32 activates microRNAs and prevents self-renewal in mouse neural progenitorsThe blind leading the obese: the molecular pathophysiology of a human obesity syndromeA novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese familyWilliams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligaseDeficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic componentIdentification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeBardet-Biedl SyndromeThe role of primary cilia in the development and disease of the retinaThe TRIM-NHL protein LIN-41 controls the onset of developmental plasticity in Caenorhabditis elegansIdentification and functional analysis of the vision-specific BBS3 (ARL6) long isoformThe nonmotile ciliopathies.The roles of evolutionarily conserved functional modules in cilia-related trafficking.Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementDisruption of a ciliary B9 protein complex causes Meckel syndromeNephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo deliveryLumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosisIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeComprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathwaysLeptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndromeA knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesityThe common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotypeLoss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targetingThe primary cilium: a signalling centre during vertebrate developmentThe proteome of the mouse photoreceptor sensory cilium complexOrigin and diversification of TRIM ubiquitin ligases.Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomicsThe N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.The neural stem cell fate determinant TRIM32 regulates complex behavioral traits.Prioritization of retinal disease genes: an integrative approachUnraveling the genetics of human obesity.Zebrafish orthologs of human muscular dystrophy genes
P2860
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P2860
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
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2006 nî lūn-bûn
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2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2006 թվականի ապրիլին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
@ast
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
@en
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
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type
label
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
@ast
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
@en
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
@nl
prefLabel
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
@ast
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
@en
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
@nl
P2093
P2860
P50
P3181
P356
P1476
Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)
@en
P2093
Annie P Chiang
Darryl Y Nishimura
Hsan-Jan Yen
John S Beck
Khalil Elbedour
Marwan K Tayeh
Rivka Carmi
Ruth E Swiderski
Terry A Braun
Thomas L Casavant
P2860
P304
P3181
P356
10.1073/PNAS.0600158103
P407
P577
2006-04-10T00:00:00Z