Scrutinizing ciliopathies by unraveling ciliary interaction networks - Test2 - elhamkhani - TriplyDB

Scrutinizing ciliopathies by unraveling ciliary interaction networks

Scrutinizing ciliopathies by unraveling ciliary interaction networks

http://www.wikidata.org/entity/Q27025614

about

Smelling the roses and seeing the light: gene therapy for ciliopathies Molecular complexes that direct rhodopsin transport to primary cilia The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signaling Handedness helps homing in swimming and flying animals.Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia.Hedgehog agonist therapy corrects structural and cognitive deficits in a Down syndrome mouse model Primary cilia signaling mediates intraocular pressure sensation.Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.Analysis of the Ush2a gene in medaka fish (Oryzias latipes).Clinical characteristics and current therapies for inherited retinal degenerations A network-based approach to dissect the cilia/centrosome complex interactome.The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.Reciprocal regulation of cilia and autophagy via the MTOR and proteasome pathways.Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access.Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.Disruption of polycystin-L causes hippocampal and thalamocortical hyperexcitability Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Mutations in TMEM231 cause Meckel-Gruber syndrome.Current insights into renal ciliopathies: what can genetics teach us?The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium Molecular assemblies that control rhodopsin transport to the cilia Primary cilia in neurodevelopmental disorders.Systemic diseases associated with retinal dystrophies.Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes Isolation of intraflagellar transport trains.Sensory Biology: Novel Peripheral Organization for Better Smell.Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.The Arf GEF GBF1 and Arf4 synergize with the sensory receptor cargo, rhodopsin, to regulate ciliary membrane trafficking.Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia.

P2860

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P2860

Scrutinizing ciliopathies by unraveling ciliary interaction networks

http://www.wikidata.org/entity/Q27025614

description

2011 nî lūn-bûn

@nan

2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

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2011年論文

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2011年论文

@wuu

name

Scrutinizing ciliopathies by unraveling ciliary interaction networks

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Scrutinizing ciliopathies by unraveling ciliary interaction networks

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Scrutinizing ciliopathies by unraveling ciliary interaction networks

@nl

type

label

Scrutinizing ciliopathies by unraveling ciliary interaction networks

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Scrutinizing ciliopathies by unraveling ciliary interaction networks

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Scrutinizing ciliopathies by unraveling ciliary interaction networks

@nl

prefLabel

Scrutinizing ciliopathies by unraveling ciliary interaction networks

@ast

Scrutinizing ciliopathies by unraveling ciliary interaction networks

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Scrutinizing ciliopathies by unraveling ciliary interaction networks

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Human Molecular Genetics

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Scrutinizing ciliopathies by unraveling ciliary interaction networks

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P2093

H. H. Arts

http://www.w3.org/2001/XMLSchema#string

J. van Reeuwijk

http://www.w3.org/2001/XMLSchema#string

R. Roepman

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P2860

The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex

The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes

TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Centriolar kinesin Kif24 interacts with CP110 to remodel microtubules and regulate ciliogenesis

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R149-57

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scholarly article

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10.1093/HMG/DDR354

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R2

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20

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51591075

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21862450

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