(Q38008851)

26 August 2017

title

Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions (English)

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26 August 2017

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Shenfeng Qiu

1

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26 August 2017

Kimberly A Aldinger

series ordinal

2

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26 August 2017

Pat Levitt

series ordinal

3

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26 August 2017

publication date

8 May 2012

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Developmental Neuroscience

26 August 2017

published in

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26 August 2017

volume

34

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26 August 2017

issue

2-3

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26 August 2017

page(s)

88-100

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Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007.

26 August 2017

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Solving the autism puzzle a few pieces at a time

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Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders

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Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.

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Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation.

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The genetics of child psychiatric disorders: focus on autism and Tourette syndrome

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The clinical-basic interface in defining pathogenesis in disorders of neurodevelopmental origin

21 January 2018

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Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

21 January 2018

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Behavioural phenotyping assays for mouse models of autism

21 January 2018

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SnapShot: genetics of autism.

21 January 2018

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The challenge of translation in social neuroscience: a review of oxytocin, vasopressin, and affiliative behavior

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The genetics of autism: key issues, recent findings, and clinical implications

21 January 2018

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The conundrums of understanding genetic risks for autism spectrum disorders

21 January 2018

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Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

21 January 2018

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The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

21 January 2018

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Cell adhesion molecules: signalling functions at the synapse

21 January 2018

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Molecular mechanisms of synaptic specificity in developing neural circuits

21 January 2018

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Neuroligins and neurexins link synaptic function to cognitive disease

21 January 2018

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

21 January 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

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

21 January 2018

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Postsynaptic N-methyl-D-aspartate receptor function requires alpha-neurexins

21 January 2018

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Expression mechanisms underlying NMDA receptor-dependent long-term potentiation

21 January 2018

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Neurexins physically and functionally interact with GABA(A) receptors

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients

21 January 2018

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A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice

21 January 2018

1 reference

Regulation of neocortical interneuron development and the implications for neurodevelopmental disorders.

21 January 2018

1 reference

Model of autism: increased ratio of excitation/inhibition in key neural systems

21 January 2018

1 reference

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

21 January 2018

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The postsynaptic density proteins Homer and Shank form a polymeric network structure

21 January 2018

1 reference

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.

21 January 2018

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22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay

21 January 2018

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SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

21 January 2018

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Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

21 January 2018

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Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

21 January 2018

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Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism

21 January 2018

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Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

21 January 2018

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Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels

21 January 2018

1 reference

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.

21 January 2018

1 reference

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

21 January 2018

1 reference

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

21 January 2018

1 reference

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

21 January 2018

1 reference

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

21 January 2018

1 reference

A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits

21 January 2018

1 reference

A functional genetic link between distinct developmental language disorders

21 January 2018

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Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2

21 January 2018

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Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1

21 January 2018

1 reference

Scatter factor/hepatocyte growth factor is essential for liver development

21 January 2018

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Placental defect and embryonic lethality in mice lacking hepatocyte growth factor/scatter factor

21 January 2018

1 reference

Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk

21 January 2018

1 reference

Conserved subcortical and divergent cortical expression of proteins encoded by orthologs of the autism risk gene MET.

21 January 2018

1 reference

Dynamic gene and protein expression patterns of the autism-associated met receptor tyrosine kinase in the developing mouse forebrain

21 January 2018

1 reference

Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder

21 January 2018

1 reference

A genetic variant that disrupts MET transcription is associated with autism

21 January 2018

1 reference

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

MET and autism susceptibility: family and case-control studies

21 January 2018

1 reference

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

21 January 2018

1 reference

Further evidence for the role of MET in autism susceptibility.

21 January 2018

1 reference

Disruption of cerebral cortex MET signaling in autism spectrum disorder.

21 January 2018

1 reference

Gene expression studies in autism: moving from the genome to the transcriptome and beyond

21 January 2018

1 reference

A new synaptic player leading to autism risk: Met receptor tyrosine kinase

21 January 2018

1 reference

Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon

21 January 2018

1 reference

The autism risk genes MET and PLAUR differentially impact cortical development

21 January 2018

1 reference

Region- and age-specific deficits in gamma-aminobutyric acidergic neuron development in the telencephalon of the uPAR(-/-) mouse

21 January 2018

1 reference

Differential regulation of thalamic and cortical axonal growth by hepatocyte growth factor/scatter factor

21 January 2018

1 reference

Evidence of cell-nonautonomous changes in dendrite and dendritic spine morphology in the met-signaling-deficient mouse forebrain

21 January 2018

1 reference

Dendritic spine geometry is critical for AMPA receptor expression in hippocampal CA1 pyramidal neurons

21 January 2018

1 reference

Circuit-specific intracortical hyperconnectivity in mice with deletion of the autism-associated Met receptor tyrosine kinase

21 January 2018

1 reference

Diseases of unstable repeat expansion: mechanisms and common principles

21 January 2018

1 reference

Trinucleotide Repeat Disorders

21 January 2018

1 reference

Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome

21 January 2018

1 reference

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

Fmr1 KO mice as a possible model of autistic features.

21 January 2018

1 reference

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

21 January 2018

1 reference

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

21 January 2018

1 reference

The mGluR theory of fragile X mental retardation

21 January 2018

1 reference

Correction of fragile X syndrome in mice.

21 January 2018

1 reference

Altered neocortical rhythmic activity states in Fmr1 KO mice are due to enhanced mGluR5 signaling and involve changes in excitatory circuitry

21 January 2018

1 reference

Targeted treatments for fragile X syndrome

21 January 2018

1 reference

Toward fulfilling the promise of molecular medicine in fragile X syndrome

21 January 2018

1 reference

Altered synaptic plasticity in a mouse model of fragile X mental retardation

21 January 2018

1 reference

Early postnatal plasticity in neocortex of Fmr1 knockout mice.

21 January 2018

1 reference

Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein.

21 January 2018

1 reference

Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency.

21 January 2018

1 reference

Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome

21 January 2018

1 reference

Circuit and plasticity defects in the developing somatosensory cortex of FMR1 knock-out mice.

21 January 2018

1 reference

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

1 reference

MeCP2 dysfunction in Rett syndrome and related disorders

21 January 2018

1 reference

Dendritic anomalies in disorders associated with mental retardation

21 January 2018

1 reference

The story of Rett syndrome: from clinic to neurobiology

21 January 2018

1 reference

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

21 January 2018

1 reference

Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation

21 January 2018

1 reference

Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function

21 January 2018

1 reference

Synaptic circuit abnormalities of motor-frontal layer 2/3 pyramidal neurons in an RNA interference model of methyl-CpG-binding protein 2 deficiency

21 January 2018

1 reference

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

21 January 2018

1 reference

Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

21 January 2018

1 reference

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies

21 January 2018

1 reference

Copy-number variants in neurodevelopmental disorders: promises and challenges

21 January 2018

1 reference

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

1 reference

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

21 January 2018

1 reference

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

21 January 2018

1 reference

Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

1 reference

Mouse chromosome engineering for modeling human disease

21 January 2018

1 reference

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

21 January 2018

1 reference

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

21 January 2018

1 reference

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

21 January 2018

1 reference

Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism

21 January 2018

1 reference

A-to-I editing: new and old sites, functions and speculations

21 January 2018

1 reference

Recurrent 16p11.2 microdeletions in autism

21 January 2018

1 reference

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

21 January 2018

1 reference

Microduplications of 16p11.2 are associated with schizophrenia

21 January 2018

1 reference

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

21 January 2018

1 reference

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000336644

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26 August 2017

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