Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia - Wikidata - wikimedia - TriplyDB

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

http://www.wikidata.org/entity/Q24297920

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Rare deletions at the neurexin 3 locus in autism spectrum disorder The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.Rate of de novo mutations and the importance of father's age to disease risk SYNGAP1: Mind the Gap Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia.Advancing the understanding of autism disease mechanisms through genetics A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders Deletion of α-neurexin II results in autism-related behaviors in mice Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders The specific α-neurexin interactor calsyntenin-3 promotes excitatory and inhibitory synapse development Interaction between autism-linked MDGAs and neuroligins suppresses inhibitory synapse development Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism Genetic targeting of NRXN2 in mice unveils role in excitatory cortical synapse function and social behaviors Synaptic proteins and receptors defects in autism spectrum disorders A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior.Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2.Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories.Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes.Autism-like behaviours and enhanced memory formation and synaptic plasticity in Lrfn2/SALM1-deficient mice Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder.The genetics of Autism Spectrum Disorders--a guide for clinicians.Chronic low-level domoic acid exposure alters gene transcription and impairs mitochondrial function in the CNS.Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes.Genetic insights into the functional elements of language.Genetic copy number variation and general cognitive ability MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.Identification of candidate intergenic risk loci in autism spectrum disorder.Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.Autism beyond diagnostic categories: characterization of autistic phenotypes in schizophrenia.Dileucine and PDZ-binding motifs mediate synaptic adhesion-like molecule 1 (SALM1) trafficking in hippocampal neurons Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.A Case of Autism with Ring Chromosome 14.Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

http://www.wikidata.org/entity/Q24297920

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2011 nî lūn-bûn

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2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2011 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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Ann Marie Craig

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Anne Noreau

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P2860

Neuroligins and neurexins link synaptic function to cognitive disease

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

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha

High frequency of neurexin 1beta signal peptide structural variants in patients with autism

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.

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

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia

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

Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

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Laurent Mottron

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postsynaptic membrane assembly

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