The primary cilium: a signalling centre during vertebrate development - Test2 - elhamkhani - TriplyDB

The primary cilium: a signalling centre during vertebrate development

The primary cilium: a signalling centre during vertebrate development

http://www.wikidata.org/entity/Q29547197

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Live imaging of individual cell divisions in mouse neuroepithelium shows asymmetry in cilium formation and Sonic hedgehog response Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease Mice lacking α-tubulin acetyltransferase 1 are viable but display α-tubulin acetylation deficiency and dentate gyrus distortion A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened RTTN mutations link primary cilia function to organization of the human cerebral cortex Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119.The Lowe syndrome protein OCRL1 is involved in primary cilia assembly TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia The deubiquitinating enzyme CYLD controls apical docking of basal bodies in ciliated epithelial cells The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation BBS mutations modify phenotypic expression of CEP290-related ciliopathies Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation CCDC41 is required for ciliary vesicle docking to the mother centriole The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome miR-129-3p controls cilia assembly by regulating CP110 and actin dynamics The role of RPGR in cilia formation and actin stability Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis Intraflagellar transport delivers tubulin isotypes to sensory cilium middle and distal segments Unique properties of Drosophila spermatocyte primary cilia Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment GRK2: multiple roles beyond G protein-coupled receptor desensitization Production of Basal Bodies in bulk for dense multicilia formation The cilia-regulated proteasome and its role in the development of ciliopathies and cancer Ciliogenesis and the DNA damage response: a stressful relationship Gorab Is Required for Dermal Condensate Cells to Respond to Hedgehog Signals during Hair Follicle Morphogenesis Cilia in autophagy and cancer Cellular Mechanisms of Ciliary Length Control Current topics of functional links between primary cilia and cell cycle Ciliary/Flagellar Protein Ubiquitination The Roles of Hedgehog Signaling in Upper Lip Formation Proliferation control in neural stem and progenitor cells Specialized Cilia in Mammalian Sensory Systems

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The primary cilium: a signalling centre during vertebrate development

http://www.wikidata.org/entity/Q29547197

description

2010 nî lūn-bûn

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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2010 թվականի մայիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

The primary cilium: a signalling centre during vertebrate development

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The primary cilium: a signalling centre during vertebrate development

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The primary cilium: a signalling centre during vertebrate development

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The primary cilium: a signalling centre during vertebrate development

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Nature Reviews Genetics

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The primary cilium: a signalling centre during vertebrate development

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Sarah C Goetz

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P2860

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

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

The Ciliopathies: An Emerging Class of Human Genetic Disorders

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

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

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling

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10.1038/NRG2774

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5

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Kathryn V. Anderson

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1047735807

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