Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling - Wikidata - awgldk - TriplyDB

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

http://www.wikidata.org/entity/Q27310130

about

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling Transition zone assembly and its contribution to axoneme formation in Drosophila male germ cells.Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Drosophila sensory cilia lacking MKS proteins exhibit striking defects in development but only subtle defects in adults.INPP5E regulates phosphoinositide-dependent cilia transition zone function.The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling.Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.Protein Interaction Analysis Provides a Map of the Spatial and Temporal Organization of the Ciliary Gating Zone.Permeability barriers for generating a unique ciliary protein and lipid composition.Microtubule Motors Drive Hedgehog Signaling in Primary Cilia.Genetic kidney diseases: Caenorhabditis elegans as model system.Routes and machinery of primary cilium biogenesis.Genes and molecular pathways underpinning ciliopathies.Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndrome.A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma.Cell type-specific regulation of ciliary transition zone assembly in vertebrates.The molecular machines that traffic signaling receptors into and out of cilia.BBSome trains remove activated GPCRs from cilia by enabling passage through the transition zone.Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice.

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Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

http://www.wikidata.org/entity/Q27310130

description

2015 nî lūn-bûn

@nan

2015 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

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Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

@en

Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

@nl

type

label

Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

@ast

Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

@en

Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

@nl

prefLabel

Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

@ast

Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

@en

Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

@nl

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JOURNAL.PGEN.1005627

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Conserved Genetic Interactions ...... ogenesis and Ciliary Signaling

@en

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Chunmei Li

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Jeremy F Reiter

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Julie K Kennedy

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Kaveh Ashrafi

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Laura E Yee

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Michel R Leroux

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Rachel V Bowie

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P2860

Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

Finding the missing heritability of complex diseases

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

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

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

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

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e1005627

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scholarly article

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3820874

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10.1371/JOURNAL.PGEN.1005627

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11

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11

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Oliver E Blacque

Francesc R Garcia-Gonzalo

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2015-11-01T00:00:00Z

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283512730

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26540106

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cilium morphogenesis

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4635004

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