Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. - Test2 - elhamkhani - TriplyDB

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

http://www.wikidata.org/entity/Q27919661

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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome An inducible CiliaGFP mouse model for in vivo visualization and analysis of cilia in live tissue.Dissection of epistasis in oligogenic Bardet-Biedl syndrome Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation Arl2 and Arl3 regulate different microtubule-dependent processes.Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3 The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function 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 Cellular Mechanisms of Ciliary Length Control Molecular views of Arf-like small GTPases in cilia and ciliopathies The evolution of land plant cilia Rab and Arf proteins in genetic diseases KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform Crystal structure of the small GTPase Arl6/BBS3 fromTrypanosoma brucei Structural insights into the small G-protein Arl13B and implications for Joubert syndrome Sensory ciliogenesis in Caenorhabditis elegans: assignment of IFT components into distinct modules based on transport and phenotypic profiles.The nonmotile ciliopathies.The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis The emerging role of Arf/Arl small GTPases in cilia and ciliopathies.Trafficking in and to the primary cilium.The roles of evolutionarily conserved functional modules in cilia-related trafficking.Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity The proteome of the mouse photoreceptor sensory cilium complex Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics

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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

http://www.wikidata.org/entity/Q27919661

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2004 nî lūn-bûn

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2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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name

Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Mutations in a member of the R ...... s causes Bardet-Biedl syndrome

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Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Nature Genetics

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Mutations in a member of the R ...... causes Bardet-Biedl syndrome.

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Alison J Ross

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David L Baillie

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Deanna S Compton

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Helen May-Simera

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Jane S Green

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Michel R Leroux

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Mieke M van Haelst

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Muneer A Esmail

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Patrick S Parfrey

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Philip L Beales

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P2860

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

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

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

Arf, Arl, Arp and Sar proteins: a family of GTP-binding proteins with a structural device for 'front-back' communication.

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

The structural GDP/GTP cycle of human Arf6

Profile hidden Markov models

Role for Arf3p in development of polarity, but not endocytosis, in Saccharomyces cerevisiae.

A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

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10.1038/NG1414

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9

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36

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Nicholas Katsanis

Keith Boroevich

Oliver E Blacque

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2004-09-01T00:00:00Z

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8396119

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1011476418

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15314642

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