相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom et al.
CELL (2020)
Uncovering the Functional Link Between SHANK3 Deletions and Deficiency in Neurodevelopment Using iPSC-Derived Human Neurons
Guanqun Huang et al.
FRONTIERS IN NEUROANATOMY (2019)
Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons (vol 11, pg 1211, 2018)
Eric Deneault et al.
STEM CELL REPORTS (2019)
Neuronal impact of patient-specific aberrant NRXN1α splicing
Erin Flaherty et al.
NATURE GENETICS (2019)
Application of Human-Induced Pluripotent Stem Cells (hiPSCs) to Study Synaptopathy of Neurodevelopmental Disorders
Xuting Shen et al.
DEVELOPMENTAL NEUROBIOLOGY (2019)
Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons
Simon T. Schafer et al.
NATURE NEUROSCIENCE (2019)
Autism spectrum disorder: insights into convergent mechanisms from transcriptomics
Mathieu Quesnel-Vallieres et al.
NATURE REVIEWS GENETICS (2019)
STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets
Damian Szklarczyk et al.
NUCLEIC ACIDS RESEARCH (2019)
Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations
Laura Gouder et al.
SCIENTIFIC REPORTS (2019)
Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development
A. Kathuria et al.
MOLECULAR PSYCHIATRY (2018)
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder
Elizabeth L. Berg et al.
AUTISM RESEARCH (2018)
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome
Andrew R. Mitz et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Structural basis for PDZ domain interactions in the post-synaptic density scaffolding protein Shank3
Srinivas Kumar Ponna et al.
JOURNAL OF NEUROCHEMISTRY (2018)
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
Silvia De Rubeis et al.
MOLECULAR AUTISM (2018)
Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors
Alexandra L. Bey et al.
TRANSLATIONAL PSYCHIATRY (2018)
Shank and Zinc Mediate an AMPA Receptor Subunit Switch in Developing Neurons
Huong T. T. Ha et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)
A Presynaptic Function of Shank Protein in Drosophila
Song Wu et al.
JOURNAL OF NEUROSCIENCE (2017)
Homer1b/c clustering is impaired in Phelan-McDermid Syndrome iPSCs derived neurons
C Vicidomini et al.
MOLECULAR PSYCHIATRY (2017)
SHANK proteins: roles at the synapse and in autism spectrum disorder
Patricia Monteiro et al.
NATURE REVIEWS NEUROSCIENCE (2017)
Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex
Tomasz J. Nowakowski et al.
SCIENCE (2017)
Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains
Gabriel E. Hoffman et al.
NATURE COMMUNICATIONS (2017)
Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits
Randall J. Platt et al.
CELL REPORTS (2017)
Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat
Hala Harony-Nicolas et al.
ELIFE (2017)
Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism
Sameer C. Dhamne et al.
MOLECULAR AUTISM (2017)
Shank Proteins Differentially Regulate Synaptic Transmission
Rebecca Shi et al.
ENEURO (2017)
Altered Striatal Synaptic Function and Abnormal Behaviour in Shank3 Exon4-9 Deletion Mouse Model of Autism
Thomas C. Jaramillo et al.
AUTISM RESEARCH (2016)
variancePartition: interpreting drivers of variation in complex gene expression studies
Gabriel E. Hoffman et al.
BMC BIOINFORMATICS (2016)
Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals
Sonja Halbedl et al.
JOURNAL OF NEUROCHEMISTRY (2016)
Wnt signaling networks in autism spectrum disorder and intellectual disability
Vickie Kwan et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2016)
Shank Modulates Postsynaptic Wnt Signaling to Regulate Synaptic Development
Kathryn P. Harris et al.
JOURNAL OF NEUROSCIENCE (2016)
CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency
Michael Bidinosti et al.
SCIENCE (2016)
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
Fei Yi et al.
SCIENCE (2016)
Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism
Xiaoming Wang et al.
NATURE COMMUNICATIONS (2016)
Neurons Derived From Patient-Specific Induced Pluripotent Stem Cells: A Promising Strategy Towards Developing Novel Pharmacotherapies for Autism Spectrum Disorders
Ryan Mokhtari et al.
EBIOMEDICINE (2016)
Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome
Helene Darville et al.
EBIOMEDICINE (2016)
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Lot Snijders Blok et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis
Robert A. Kozol et al.
HUMAN MOLECULAR GENETICS (2015)
Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits
Haley E. Speed et al.
JOURNAL OF NEUROSCIENCE (2015)
Pten Mutations Alter Brain Growth Trajectory and Allocation of Cell Types through Elevated β-Catenin Signaling
Youjun Chen et al.
JOURNAL OF NEUROSCIENCE (2015)
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright et al.
LANCET (2015)
Robust enumeration of cell subsets from tissue expression profiles
Aaron M. Newman et al.
NATURE METHODS (2015)
limma powers differential expression analyses for RNA-sequencing and microarray studies
Matthew E. Ritchie et al.
NUCLEIC ACIDS RESEARCH (2015)
CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment
Ping Wang et al.
MOLECULAR AUTISM (2015)
A molecular model for neurodevelopmental disorders
C. O. Gigek et al.
TRANSLATIONAL PSYCHIATRY (2015)
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes
Laura Spinelli et al.
JOURNAL OF MEDICAL GENETICS (2015)
Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism
T. W. Frazier et al.
MOLECULAR PSYCHIATRY (2015)
Molecular Convergence of Neurodevelopmental Disorders
Elizabeth S. Chen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
Yang Liao et al.
BIOINFORMATICS (2014)
Trimmomatic: a flexible trimmer for Illumina sequence data
Anthony M. Bolger et al.
BIOINFORMATICS (2014)
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome
Sara M. Sarasua et al.
GENETICS IN MEDICINE (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov et al.
NATURE (2014)
A de novo convergence of autism genetics and molecular neuroscience
Niklas Krumm et al.
TRENDS IN NEUROSCIENCES (2014)
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond et al.
PLOS GENETICS (2014)
Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1
Noelle D. Germain et al.
MOLECULAR AUTISM (2014)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism
Neelroop N. Parikshak et al.
CELL (2013)
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
Luigi Boccuto et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Loss of Predominant Shank3 Isoforms Results in Hippocampus-Dependent Impairments in Behavior and Synaptic Transmission
Mehreen Kouser et al.
JOURNAL OF NEUROSCIENCE (2013)
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
Aleksandr Shcheglovitov et al.
NATURE (2013)
Neuroligin-1 controls synaptic abundance of NMDA-type glutamate receptors through extracellular coupling
Elaine C. Budreck et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
SHANK3 haploinsufficiency: a common but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Catalina Betancur et al.
MOLECULAR AUTISM (2013)
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
Latha Soorya et al.
MOLECULAR AUTISM (2013)
Brain region differences in regulation of Akt and GSK3 by chronic stimulant administration in mice
Marjelo A. Mines et al.
CELLULAR SIGNALLING (2012)
Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling
Magali H. Arons et al.
JOURNAL OF NEUROSCIENCE (2012)
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
C. M. Durand et al.
MOLECULAR PSYCHIATRY (2012)
A review of the evidence for the canonical Wnt pathway in autism spectrum disorders
Hans Otto Kalkman
MOLECULAR AUTISM (2012)
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
Catalina Betancur
BRAIN RESEARCH (2011)
Reference Maps of Human ES and iPS Cell Variation Enable High-Throughput Characterization of Pluripotent Cell Lines
Christoph Bock et al.
CELL (2011)
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Jennifer C. Darnell et al.
CELL (2011)
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
Marcella Zollino et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
Xiaoming Wang et al.
HUMAN MOLECULAR GENETICS (2011)
Importance of Shank3 Protein in Regulating Metabotropic Glutamate Receptor 5 (mGluR5) Expression and Signaling at Synapses
Chiara Verpelli et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Modelling schizophrenia using human induced pluripotent stem cells
Kristen J. Brennand et al.
NATURE (2011)
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Joao Peca et al.
NATURE (2011)
Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses
Sarah R. Gilman et al.
NEURON (2011)
Raphe-mediated signals control the hippocampal response to SRI antidepressants via miR-16
J. M. Launay et al.
TRANSLATIONAL PSYCHIATRY (2011)
Dishevelled: The hub of Wnt signaling
Chan Gao et al.
CELLULAR SIGNALLING (2010)
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
Ozlem Bozdagi et al.
MOLECULAR AUTISM (2010)
Hox Genes and Segmentation of the Hindbrain and Axial Skeleton
Tara Alexander et al.
ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY (2009)
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
Jing Chen et al.
NUCLEIC ACIDS RESEARCH (2009)
A rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in vitro instruction and synaptic integration
Philipp Koch et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders
Catalina Betancur et al.
TRENDS IN NEUROSCIENCES (2009)
WGCNA: an R package for weighted correlation network analysis
Peter Langfelder et al.
BMC BIOINFORMATICS (2008)
Homeobox genes in vertebrate forebrain development and disease
J. T. Wigle et al.
CLINICAL GENETICS (2008)
Neuroligins and neurexins link synaptic function to cognitive disease
Thomas C. Sudhof
NATURE (2008)
Clinical characterization of the HOXA1 syndrome BSAS variant
T. M. Bosley et al.
NEUROLOGY (2007)
Activation of the canonical Wnt pathway by the antipsychotics haloperidol and clozapine involves dishevelled-3
Laurie P. Sutton et al.
JOURNAL OF NEUROCHEMISTRY (2007)
Haloperidol and clozapine differentially regulate signals upstream of glycogen synthase kinase 3 in the rat frontal cortex
Myoung-Sun Roh et al.
EXPERIMENTAL AND MOLECULAR MEDICINE (2007)
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
MA Tischfield et al.
NATURE GENETICS (2005)
The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin
G Meyer et al.
NEUROPHARMACOLOGY (2004)
Cytoscape: A software environment for integrated models of biomolecular interaction networks
P Shannon et al.
GENOME RESEARCH (2003)
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors
A Chenn et al.
SCIENCE (2002)
分享论文
