Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11) - Test2 - elhamkhani - TriplyDB

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

http://www.wikidata.org/entity/Q24546392

about

The dynamic cilium in human diseases Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology The 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 NFkappaB Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome TRIM32 is an E3 ubiquitin ligase for dysbindin Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia The TRIM-NHL protein TRIM32 activates microRNAs and prevents self-renewal in mouse neural progenitors The blind leading the obese: the molecular pathophysiology of a human obesity syndrome A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome Bardet-Biedl Syndrome The role of primary cilia in the development and disease of the retina The TRIM-NHL protein LIN-41 controls the onset of developmental plasticity in Caenorhabditis elegans Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform The nonmotile ciliopathies.The roles of evolutionarily conserved functional modules in cilia-related trafficking.Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management Disruption of a ciliary B9 protein complex causes Meckel syndrome Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity The 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 phenotype Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting The primary cilium: a signalling centre during vertebrate development The proteome of the mouse photoreceptor sensory cilium complex Origin and diversification of TRIM ubiquitin ligases.Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics The 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 approach Unraveling the genetics of human obesity.Zebrafish orthologs of human muscular dystrophy genes

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Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

http://www.wikidata.org/entity/Q24546392

description

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)

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Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)

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Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)

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type

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Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)

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Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)

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Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)

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Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)

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Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)

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Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)

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Proceedings of the National Academy of Sciences of the United States of America

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Homozygosity mapping with SNP ...... et-Biedl syndrome gene (BBS11)

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Annie P Chiang

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Darryl Y Nishimura

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Hsan-Jan Yen

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John S Beck

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Khalil Elbedour

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Marwan K Tayeh

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Rivka Carmi

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Ruth E Swiderski

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Terry A Braun

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Thomas L Casavant

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P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

The tripartite motif family identifies cell compartments.

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

Identification of a novel human zinc finger protein that specifically interacts with the activation domain of lentiviral Tat proteins

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

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6287-6292

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scholarly article

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3712417

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10.1073/PNAS.0600158103

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16

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103

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Diane C Slusarski

Todd E. Scheetz

Val C Sheffield

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2006-04-10T00:00:00Z

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7172919

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16606853

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1458870

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