C2cd3 is required for cilia formation and Hedgehog signaling in mouse. - Test2 - elhamkhani - TriplyDB

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

http://www.wikidata.org/entity/Q27967629

about

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment Update on oral-facial-digital syndromes (OFDS)A primer on the mouse basal body Human basal body basics SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube Coordinated translocation of mammalian Gli proteins and suppressor of fused to the primary cilium Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2.Analysis of hedgehog signaling in mouse intraflagellar transport mutants Clinical implications of hedgehog signaling pathway inhibitors Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome The Hedgehog pathway: role in cell differentiation, polarity and proliferation Genetic link between renal birth defects and congenital heart disease The relationship between sonic Hedgehog signaling, cilia, and neural tube defects Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function Utilizing the chicken as an animal model for human craniofacial ciliopathies.Targeting hedgehog signaling in cancer: research and clinical developments.Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia.Understanding Mechanisms of GLI-Mediated Transcription during Craniofacial Development and Disease Using the Ciliopathic Mutant, talpid2.Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans.Activation of the hedgehog-signaling pathway in human cancer and the clinical implications.The primary cilium as a Hedgehog signal transduction machine.Hedgehog signaling in skin cancers Primary cilia and graded Sonic Hedgehog signaling.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies.Primary Cilia and Mammalian Hedgehog Signaling.An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.Mutations in C2CD3 cause oral-facial-digital syndrome through deregulation of centriole length.Suppressor of Fused inhibits mammalian Hedgehog signaling in the absence of cilia WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.C2CD3 binds the mother centriole Sending mixed signals: Cilia-dependent signaling during development and disease.Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome.

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P2860

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

http://www.wikidata.org/entity/Q27967629

description

2008 nî lūn-bûn

@nan

2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2008年の論文

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2008年論文

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2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

@ast

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

@en

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

@nl

type

label

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

@ast

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

@en

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

@nl

altLabel

C2cd3 is required for cilia formation and Hedgehog signaling in mouse

@en

prefLabel

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

@ast

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

@en

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

@nl

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C2cd3 is required for cilia formation and Hedgehog signaling in mouse

@en

P2093

Aaron Wynkoop

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

Aimin Liu

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

Huiqing Zeng

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

Jinping Jia

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

P2860

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

Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

A gene for Meckel syndrome maps to chromosome 11q13.

The C2 domain calcium-binding motif: structural and functional diversity

Vertebrate Smoothened functions at the primary cilium.

Intraflagellar transport

Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein

Left-right asymmetric expression of the TGF beta-family member lefty in mouse embryos

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

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4049-4058

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

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scholarly article

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2112197

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10.1242/DEV.029835

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24

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135

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2008-11-12T00:00:00Z

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23469302

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P698

19004860

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

P921

Microtubule-associated protein tau

C2 calcium-dependent domain containing 3

Ras-related protein Rab-23

Tubulin, gamma 1

P932

3120044

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