The role of primary cilia in neuronal function - Test2 - elhamkhani - TriplyDB

The role of primary cilia in neuronal function

The role of primary cilia in neuronal function

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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways Type 3 adenylyl cyclase: a key enzyme mediating the cAMP signaling in neuronal cilia NEK1 variants confer susceptibility to amyotrophic lateral sclerosis Functional characterization of putative cilia genes by high-content analysis Lack of dopaminergic inputs elongates the primary cilia of striatal neurons Targeting of vasoactive intestinal peptide receptor 2, VPAC2, a secretin family G-protein coupled receptor, to primary cilia.The primary cilium: a signalling centre during vertebrate development Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.Mutation of Dcdc2 in mice leads to impairments in auditory processing and memory ability.Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability.Global gene expression profiling of healthy human brain and its application in studying neurological disorders.Basal body proteins regulate Notch signaling through endosomal trafficking.Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice Purkinje cell compartmentalization in the cerebellum of the spontaneous mutant mouse dreher Investigation of modifier genes within copy number variations in Rett syndrome Developmental disruptions underlying brain abnormalities in ciliopathies.Loss of Llgl1 in retinal neuroepithelia reveals links between apical domain size, Notch activity and neurogenesis.Development and distribution of neuronal cilia in mouse neocortex Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs.Transcriptional insights on the regenerative mechanics of axotomized neurons in vitro Primary cilia and dendritic spines: different but similar signaling compartments.Functional Genomics Identifies Tis21-Dependent Mechanisms and Putative Cancer Drug Targets Underlying Medulloblastoma Shh-Type Development.The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L.The primary cilium in different tissues-lessons from patients and animal models.Diffusion tensor imaging and fiber tractography in brain malformations.Oncoprotein stabilization in brain tumors.Clinical utility gene card for: Joubert syndrome Nuclear roles for cilia-associated proteins.Copine-7 binds to the cell surface receptor, nucleolin, and regulates ciliogenesis and Dspp expression during odontoblast differentiation.Clinical utility gene card for: Joubert syndrome--update 2013.The type 3 adenylyl cyclase is required for novel object learning and extinction of contextual memory: role of cAMP signaling in primary cilia.Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.Enteric neurons show a primary cilium.Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.The mouse radial spoke protein 3 is a nucleocytoplasmic shuttling protein that promotes neurogenesis.Molecular characterization of Joubert syndrome in Saudi Arabia.

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The role of primary cilia in neuronal function

http://www.wikidata.org/entity/Q24632925

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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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The role of primary cilia in neuronal function

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The role of primary cilia in neuronal function

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The role of primary cilia in neuronal function

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The role of primary cilia in neuronal function

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The role of primary cilia in neuronal function

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The role of primary cilia in neuronal function

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The role of primary cilia in neuronal function

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J.NBD.2009.12.022

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Neurobiology of Disease

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The role of primary cilia in neuronal function

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Jeong Ho Lee

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Joseph G Gleeson

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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

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Proteomic characterization of the human centrosome by protein correlation profiling

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

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