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

scientific article

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1009556400
P356DOI10.1007/S00439-011-0975-Z
P8608Fatcat IDrelease_6ja36i4dtvf7tdxb5uufvtlx6y
P932PMC publication ID3204930
P698PubMed publication ID21424692
P5875ResearchGate publication ID50598135

P50authorGuy A. RouleauQ3121500
Éric FombonneQ5386498
Laurent MottronQ15303095
Dan SpiegelmanQ75511254
Julie GauthierQ75511328
Salvatore CarbonettoQ88062039
Ann Marie CraigQ99353734
Jacques L. MichaudQ102286139
Pierre DrapeauQ113488674
Anne NoreauQ114410040
Nathalie ChampagneQ114410149
Mathieu LapointeQ114410150
Ronald G. LafrenièreQ114410151
Ferid FathalliQ114410152
Marie-Odile KrebsQ47503005
Tabrez J. SiddiquiQ52280123
P2093author name stringFadi F Hamdan
Lynn E DeLisi
Ridha Joober
Daisaku Yokomaku
Peng Huashan
P2860cites workNeuroligins and neurexins link synaptic function to cognitive diseaseQ22251092
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismQ24299042
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alphaQ24302161
High frequency of neurexin 1beta signal peptide structural variants in patients with autismQ24306560
Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autismQ24307957
A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum exportQ24312193
LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophreniaQ24324059
Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairmentsQ24328996
Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and lamininQ24337780
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyQ24534259
Functional impact of global rare copy number variation in autism spectrum disordersQ24596191
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophreniaQ24621518
LRRTMs and neuroligins bind neurexins with a differential code to cooperate in glutamate synapse developmentQ24621537
Mixed-culture assays for analyzing neuronal synapse formationQ80093517
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationQ24629022
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardationQ24629491
Autism genome-wide copy number variation reveals ubiquitin and neuronal genesQ24629598
Disruption of neurexin 1 associated with autism spectrum disorderQ24643899
Disruption of the neurexin 1 gene is associated with schizophreniaQ24647095
Contribution of SHANK3 mutations to autism spectrum disorderQ24648672
Neurexin-neuroligin signaling in synapse developmentQ24648824
Structural variation of chromosomes in autism spectrum disorderQ24656970
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsQ24676539
LRRTM2 functions as a neurexin ligand in promoting excitatory synapse formationQ26269925
A stoichiometric complex of neurexins and dystroglycan in brainQ26269938
Mapping autism risk loci using genetic linkage and chromosomal rearrangementsQ27315912
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophreniaQ28256580
Neurexins: three genes and 1001 productsQ28260363
Trans-synaptic interaction of GluRdelta2 and Neurexin through Cbln1 mediates synapse formation in the cerebellumQ28510819
Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosisQ28593220
Neuroligin 1: a splice site-specific ligand for beta-neurexinsQ29614429
A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexinsQ29620145
The neuropathology of schizophrenia. A critical review of the data and their interpretationQ30573678
Induction of GABAergic postsynaptic differentiation by alpha-neurexinsQ33611690
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersQ34401694
Neurexin 1alpha structural variants associated with autismQ34779660
Autism as a disorder of neural information processing: directions for research and targets for therapyQ35705869
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.Q35786397
How to build a central synapse: clues from cell cultureQ36336004
Sensorimotor gating and schizophrenia. Human and animal model studiesQ38140814
LRRTM2 interacts with Neurexin1 and regulates excitatory synapse formationQ39316804
Assessing the validity of an animal model of deficient sensorimotor gating in schizophrenic patientsQ40808959
CASK and protein 4.1 support F-actin nucleation on neurexinsQ43768975
Deletion of alpha-neurexins does not cause a major impairment of axonal pathfinding or synapse formationQ48249189
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectautismQ38404
schizophreniaQ41112
autism spectrum disorderQ1436063
neuroligin family protein bindingQ21102521
postsynaptic membrane assemblyQ21109059
Neurexin-2Q21174835
Neurexin-1Q21207908
Neuroligin 2Q21987300
Neurexin-1Q21990403
Neurexin IIQ55186693
P5008on focus list of Wikimedia projectScienceSourceQ55439927
P304page(s)563-73
P577publication date2011-10-01
P1433published inHuman GeneticsQ5937167
P1476titleTruncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
P478volume130

Reverse relations

cites work (P2860)
Q35842364A Case of Autism with Ring Chromosome 14.
Q37066504A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction
Q30366015A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior.
Q28079929A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.
Q38096335A matter of balance: role of neurexin and neuroligin at the synapse
Q36590631A proximity-based method to identify genomic regions correlated with a continuously varying environmental variable
Q64896125A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.
Q47969096A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder
Q38708466Adult Neurogenesis and Psychiatric Disorders
Q28069757Advancing the understanding of autism disease mechanisms through genetics
Q37557787An alternative splicing switch shapes neurexin repertoires in principal neurons versus interneurons in the mouse hippocampus
Q35286605Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
Q92395249Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge
Q48466433Association of neurexin 3 polymorphisms with smoking behavior
Q36217805Association testing of copy number variants in schizophrenia and autism spectrum disorders
Q33619607Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories
Q35620380Autism beyond diagnostic categories: characterization of autistic phenotypes in schizophrenia
Q38981431Autism genetics - an overview
Q33827328Autism spectrum disorder and epileptic encephalopathy: common causes, many questions
Q103825975Autism-associated miR-873 regulates ARID1B, SHANK3 and NRXN2 involved in neurodevelopment
Q33804802Autism-like behaviours and enhanced memory formation and synaptic plasticity in Lrfn2/SALM1-deficient mice
Q39180685Autoantibodies to Synaptic Receptors and Neuronal Cell Surface Proteins in Autoimmune Diseases of the Central Nervous System
Q37605727Balance within the Neurexin Trans-Synaptic Connexus Stabilizes Behavioral Control.
Q42136181CASK stabilizes neurexin and links it to liprin-α in a neuronal activity-dependent manner
Q93223361Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing
Q34069930Chronic low-level domoic acid exposure alters gene transcription and impairs mitochondrial function in the CNS.
Q28086869Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders
Q38242378Conserved and divergent processing of neuroligin and neurexin genes: from the nematode C. elegans to human
Q90866812Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Q44672682Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes
Q37497448CpG sites associated with NRP1, NRXN2 and miR-29b-2 are hypomethylated in monocytes during ageing
Q28252135Deletion of α-neurexin II results in autism-related behaviors in mice
Q27025683Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date
Q38223714Development of novel therapy of schizophrenia in children and adolescents.
Q33581309Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Q30432899Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2.
Q35763112Dileucine and PDZ-binding motifs mediate synaptic adhesion-like molecule 1 (SALM1) trafficking in hippocampal neurons
Q37708396Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Q37496956Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders
Q39238984Exonal elements and factors involved in the depolarization-induced alternative splicing of neurexin 2.
Q99563391Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia
Q36967887Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy
Q34539953Genetic copy number variation and general cognitive ability
Q34349576Genetic insights into the functional elements of language
Q28649716Genetic targeting of NRXN2 in mice unveils role in excitatory cortical synapse function and social behaviors
Q84797519Genetics of autism spectrum disorders
Q40767246Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases
Q92914432Global landscape and genetic regulation of RNA editing in cortical samples from individuals with schizophrenia
Q48760685Glutamate receptor δ1 induces preferentially inhibitory presynaptic differentiation of cortical neurons by interacting with neurexins through cerebellin precursor protein subtypes
Q41543882Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
Q27334217Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia
Q40637296Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.
Q42711564Human alpha- and beta-NRXN1 isoforms rescue behavioral impairments of Caenorhabditis elegans neurexin-deficient mutants
Q37008928Human neurexin-3α antibodies associate with encephalitis and alter synapse development.
Q34860194Identification of candidate intergenic risk loci in autism spectrum disorder
Q30461208Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder
Q41594457IgSF21 promotes differentiation of inhibitory synapses via binding to neurexin2α
Q36213513Immune system gene dysregulation in autism and schizophrenia.
Q37642418Impaired hippocampal neuroligin-2 function by chronic stress or synthetic peptide treatment is linked to social deficits and increased aggression.
Q28571273Interaction between autism-linked MDGAs and neuroligins suppresses inhibitory synapse development
Q41460041Interplay between maternal Slc6a4 mutation and prenatal stress: a possible mechanism for autistic behavior development
Q92237543Latrophilins: A Neuro-Centric View of an Evolutionary Conserved Adhesion G Protein-Coupled Receptor Subfamily
Q36038760Links between genetics and pathophysiology in the autism spectrum disorders
Q38239811Managing the ethical challenges of next-generation sequencing in genomic medicine
Q34764182MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.
Q38816786Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD.
Q38093545Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Q36716971Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links.
Q33888417Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder
Q28259910Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders
Q64237926Mutations in and in a patient with early-onset epileptic encephalopathy and respiratory depression
Q92027490Network-Based Integrative Analysis of Genomics, Epigenomics and Transcriptomics in Autism Spectrum Disorders
Q42639812Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.
Q102063568Neurexins in autism and schizophrenia-a review of patient mutations, mouse models and potential future directions
Q83228757Neurexophilin4 is a selectively expressed α-neurexin ligand that modulates specific cerebellar synapses and motor functions
Q33647511Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes
Q42320581Pan-neurexin perturbation results in compromised synapse stability and a reduction in readily releasable synaptic vesicle pool size
Q36589721Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.
Q24610600Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses
Q36403958Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Q36448230Physical Interactions and Functional Relationships of Neuroligin 2 and Midbrain Serotonin Transporters
Q24300898Rare deletions at the neurexin 3 locus in autism spectrum disorder
Q45796187Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
Q35844049Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.
Q24632353Rate of de novo mutations and the importance of father's age to disease risk
Q60112184Red fox genome assembly identifies genomic regions associated with tame and aggressive behaviours
Q57719675Regulation and postsynaptic binding of neurexins — drug targets for neurodevelopmental and neuropsychiatric disorders
Q37893976Risk factors for autism: translating genomic discoveries into diagnostics
Q26766506SYNGAP1: Mind the Gap
Q37997954Schizophrenia genetics: putting all the pieces together
Q37350686Shank mutant mice as an animal model of autism
Q90316321Stress-Induced Neuron Remodeling Reveals Differential Interplay Between Neurexin and Environmental Factors in Caenorhabditis elegans
Q57267880Synaptic Disorders
Q47444920Synaptic Neurexin Complexes: A Molecular Code for the Logic of Neural Circuits
Q35765423Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities
Q91525839Synaptic neurexin-1 assembles into dynamically regulated active zone nanoclusters
Q30009298Synaptic proteins and receptors defects in autism spectrum disorders
Q60938189Synaptopathology Involved in Autism Spectrum Disorder
Q48513662Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach
Q34323019Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes
Q38837365Systemic analysis of osteoblast-specific DNA methylation marks reveals novel epigenetic basis of osteoblast differentiation
Q35857541Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
Q89477367The Regulation of Reactive Neuroblastosis, Neuroplasticity, and Nutraceuticals for Effective Management of Autism Spectrum Disorder
Q24322902The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis
Q34034825The genetics of Autism Spectrum Disorders--a guide for clinicians
Q37559828The role of ionotropic glutamate receptors in childhood neurodevelopmental disorders: autism spectrum disorders and fragile x syndrome.
Q28511444The specific α-neurexin interactor calsyntenin-3 promotes excitatory and inhibitory synapse development
Q64090567The within-subject application of diffusion tensor MRI and CLARITY reveals brain structural changes in deletion mice
Q62749448Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
Q28645671Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism
Q50418437Wnt/β-catenin signaling stimulates the expression and synaptic clustering of the autism-associated Neuroligin 3 gene
Q38432867YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

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