SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. - Wikidata - awgldk - TriplyDB

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

http://www.wikidata.org/entity/Q45777752

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Pentylenetetrazol-induced epileptiform activity affects basal synaptic transmission and short-term plasticity in monosynaptic connections XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing Synaptic Wnt/GSK3β Signaling Hub in Autism Regulators of synaptic transmission: roles in the pathogenesis and treatment of epilepsy Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders Advancing the understanding of autism disease mechanisms through genetics Synaptic proteins and receptors defects in autism spectrum disorders Creative Activities in Music--A Genome-Wide Linkage Analysis.Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T⁺ tf/J mouse model of autism Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.Advances in imaging ultrastructure yield new insights into presynaptic biology TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.Dynamin, a membrane-remodelling GTPase.Temporal evolution of neurophysiological and behavioral features of synapsin I/II/III triple knock-out mice.Genetic forms of epilepsies and other paroxysmal disorders Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North Indian population.Porcine synapsin 1: SYN1 gene analysis and functional characterization of the promoter.SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth Synapsin II and Rab3a cooperate in the regulation of epileptic and synaptic activity in the CA1 region of the hippocampus.Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.O-linked β-N-acetylglucosamine (O-GlcNAc) site thr-87 regulates synapsin I localization to synapses and size of the reserve pool of synaptic vesicles.Redox Regulation and the Autistic Spectrum: Role of Tryptophan Catabolites, Immuno-inflammation, Autoimmunity and the Amygdala.Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders.Risk factors for autism: translating genomic discoveries into diagnostics.Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins The over-pruning hypothesis of autism.Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse.REST-Dependent Presynaptic Homeostasis Induced by Chronic Neuronal Hyperactivity.Epigenetic Treatment of Neuropsychiatric Disorders: Autism and Schizophrenia.Intrathecal immunoglobulin A and G antibodies to synapsin in a patient with limbic encephalitis.Specificity protein 1 (Sp1)-dependent activation of the synapsin I gene (SYN1) is modulated by RE1-silencing transcription factor (REST) and 5'-cytosine-phosphoguanine (CpG) methylation.Autism, epilepsy, and synaptopathies: a not rare association.

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P2860

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

http://www.wikidata.org/entity/Q45777752

description

2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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name

SYN1 loss-of-function mutation ...... se impaired synaptic function.

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SYN1 loss-of-function mutation ...... se impaired synaptic function.

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type

label

SYN1 loss-of-function mutation ...... se impaired synaptic function.

@en

SYN1 loss-of-function mutation ...... se impaired synaptic function.

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prefLabel

SYN1 loss-of-function mutation ...... se impaired synaptic function.

@en

SYN1 loss-of-function mutation ...... se impaired synaptic function.

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Human Molecular Genetics

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SYN1 loss-of-function mutation ...... se impaired synaptic function.

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Anna Corradi

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Caroline Meloche

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Dang Khoa Nguyen

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Enrico Defranchi

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Fabio Benfenati

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Franco Onofri

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Judith St-Onge

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Line Lapointe

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Lysanne Patry

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Manuela Fadda

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P2860

Advances in autism genetics: on the threshold of a new neurobiology

Neuroligins and neurexins link synaptic function to cognitive disease

Autism and brain development

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments.

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

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2297-2307

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10.1093/HMG/DDR122

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12

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20

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Laurent Mottron

Flavia Valtorta

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2011-03-25T00:00:00Z

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50867698

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