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

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

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

http://www.wikidata.org/entity/Q24533582

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The dynamic cilium in human diseases Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly 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 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 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 Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia Functional dissection of Rab GTPases involved in primary cilium formation 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)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 Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases Bardet-Biedl Syndrome The role of primary cilia in the development and disease of the retina Molecular views of Arf-like small GTPases in cilia and ciliopathies 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 The emerging role of Arf/Arl small GTPases in cilia and ciliopathies.A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome 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 primary cilium: a signalling centre during vertebrate development An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.Prioritization of retinal disease genes: an integrative approach Comparative assessment of performance and genome dependence among phylogenetic profiling methods.Novel approaches to studying the genetic basis of cerebellar development Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation.Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

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

http://www.wikidata.org/entity/Q24533582

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2004 nî lūn-bûn

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2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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American Journal of Human Genetics

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Comparative genomic analysis i ...... f Bardet-Biedl syndrome (BBS3)

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Amanda L Ferguson

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Annie P Chiang

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Darryl Nishimura

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Jenifer Secrist

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Khalil Elbedour

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Rivka Carmi

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Terry Braun

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Thomas Casavant

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P2860

Initial sequencing and analysis of the human genome

ADP-ribosylation factor (ARF)-like 4, 6, and 7 represent a subgroup of the ARF family characterization by rapid nucleotide exchange and a nuclear localization signal

The Sequence of the Human Genome

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

ADP ribosylation factor-like protein 2 (Arl2) regulates the interaction of tubulin-folding cofactor D with native tubulin

Gene ontology: tool for the unification of biology

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

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.

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

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475-484

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scholarly article

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4101553

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10.1086/423903

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3

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75

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Charles C Searby

Val C Sheffield

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2004-07-16T00:00:00Z

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8450496

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15258860

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1182025

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