A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha
about
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Neuroligins and neurexins link synaptic function to cognitive diseaseTruncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaCNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in DrosophilaMouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments.Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationMultiple rare variants in the etiology of autism spectrum disordersDisruption of the neurexin 1 gene is associated with schizophreniaAutism spectrum disorders and childhood-onset schizophrenia: clinical and biological contributions to a relation revisitedNeurexin 1 (NRXN1) deletions in schizophreniaCopy number variation and schizophreniaNeurexins physically and functionally interact with GABA(A) receptorsAn autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampusRIM1alpha and interacting proteins involved in presynaptic plasticity mediate prepulse inhibition and additional behaviors linked to schizophreniaBehavioral phenotypes of genetic mouse models of autism.Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.The Crystal Structure of the α-Neurexin-1 Extracellular Region Reveals a Hinge Point for Mediating Synaptic Adhesion and FunctionGenetic aspects of autism spectrum disorders: insights from animal modelsCommon mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disordersMutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disordersUsing Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autismGenetic targeting of NRXN2 in mice unveils role in excitatory cortical synapse function and social behaviorsNeurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disordersHotspots of large rare deletions in the human genomeDevelopmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2.Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.Uncovering molecular biomarkers that correlate cognitive decline with the changes of hippocampus' gene expression profiles in Alzheimer's disease.Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans.Neurexin in embryonic Drosophila neuromuscular junctions.Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.The macromolecular architecture of extracellular domain of alphaNRXN1: domain organization, flexibility, and insights into trans-synaptic dispositionAltered social behaviours in neurexin 1α knockout mice resemble core symptoms in neurodevelopmental disorders.Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersNRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disordersA case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population.A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletionSynaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.Neuroligin 1 modulates striatal glutamatergic neurotransmission in a pathway and NMDAR subunit-specific manner.Evidence of novel fine-scale structural variation at autism spectrum disorder candidate lociPhenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
P2860
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P2860
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@ast
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@en
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@en-gb
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@nl
type
label
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@ast
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@en
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@en-gb
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@nl
prefLabel
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@ast
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@en
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@en-gb
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@nl
P2093
P50
P921
P3181
P356
P1476
A patient with vertebral, cogn ...... de novo deletion of NRXN1alpha
@en
P2093
P304
P3181
P356
10.1136/JMG.2007.054437
P407
P577
2007-12-05T00:00:00Z