T-Brain-1 - A Potential Master Regulator in Autism Spectrum Disorders

Amyloid precursor protein and neural development

(2014) M. Nicolas et al.   DEVELOPMENT

Synaptic basis of social dysfunction: a focus on postsynaptic proteins linking group-I mGluRs with AMPARs and NMDARs

(2014) Eoin C. O'Connor et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality

(2014) Tzyy-Nan Huang et al.   NATURE NEUROSCIENCE

Activity-Induced Nr4a1 Regulates Spine Density and Distribution Pattern of Excitatory Synapses in Pyramidal Neurons

(2014) Yelin Chen et al.   NEURON

Tcf3 Represses Wnt–β-Catenin Signaling and Maintains Neural Stem Cell Population during Neocortical Development

(2014) Atsushi Kuwahara et al.   PLoS One

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of candidate intergenic risk loci in autism spectrum disorder

(2013) Susan Walker et al.   BMC GENOMICS

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

The emerging role ofSHANKgenes in neuropsychiatric disorders

(2013) Audrey Guilmatre et al.   Developmental Neurobiology

CDC42 switches IRSp53 from inhibition of actin growth to elongation by clustering of VASP

(2013) Andrea Disanza et al.   EMBO JOURNAL

Contactins in the neurobiology of autism

(2013) Amila Zuko et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

(2013) C Toma et al.   MOLECULAR PSYCHIATRY

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Modeling Autism by SHANK Gene Mutations in Mice

(2013) Yong-hui Jiang et al.   NEURON

DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families

(2012) Joe A Hettinger et al.   Behavioral and Brain Functions

Multiple Autism-Linked Genes Mediate Synapse Elimination via Proteasomal Degradation of a Synaptic Scaffold PSD-95

(2012) Nien-Pei Tsai et al.   CELL

Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

(2012) Allen N. Lamb et al.   HUMAN MUTATION

LIN7 regulates the filopodium- and neurite-promoting activity of IRSp53

(2012) A. Crespi et al.   JOURNAL OF CELL SCIENCE

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

(2012) Aparna Prasad et al.   G3-Genes Genomes Genetics

Brain region-specific altered expression and association of mitochondria-related genes in autism

(2012) Ayyappan Anitha et al.   Molecular Autism

Severe intellectual disability and autistic features associated with microduplication 2q23.1

(2011) Brian HY Chung et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

mDia1 and WAVE2 Proteins Interact Directly with IRSp53 in Filopodia and Are Involved in Filopodium Formation

(2011) Wah Ing Goh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Spatial and Temporal Requirements for huntingtin (Htt) in Neuronal Migration and Survival during Brain Development

(2011) Y. Tong et al.   JOURNAL OF NEUROSCIENCE

Neocortical excitation/inhibition balance in information processing and social dysfunction

(2011) Ofer Yizhar et al.   NATURE

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

(2011) Emma van Daalen et al.   NEUROGENETICS

Communication Impairments in Mice Lacking Shank1: Reduced Levels of Ultrasonic Vocalizations and Scent Marking Behavior

(2011) Markus Wöhr et al.   PLoS One

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

(2011) Ozlem Bozdagi et al.   Molecular Autism

Sociability and motor functions in Shank1 mutant mice

(2010) Jill L. Silverman et al.   BRAIN RESEARCH

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

(2010) Jill A Rosenfeld et al.   GENETICS IN MEDICINE

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles

(2010) Dries Castermans et al.   HUMAN MOLECULAR GENETICS

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

(2010) A. T. Pagnamenta et al.   JOURNAL OF MEDICAL GENETICS

CASK phosphorylation by PKA regulates the protein-protein interactions of CASK and expression of the NMDAR2b gene

(2010) Tzyy-Nan Huang et al.   JOURNAL OF NEUROCHEMISTRY

Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism

(2010) Claudio Toma et al.   JOURNAL OF PSYCHIATRIC RESEARCH

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

(2010) Dalila Pinto et al.   NATURE

Decreased GABAAreceptors and benzodiazepine binding sites in the anterior cingulate cortex in autism

(2009) A. Oblak et al.   Autism Research

The Effect of Variation in Expression of the Candidate Dyslexia Susceptibility Gene Homolog Kiaa0319 on Neuronal Migration and Dendritic Morphology in the Rat

(2009) Veronica J. Peschansky et al.   CEREBRAL CORTEX

Enhanced NMDA Receptor-Mediated Synaptic Transmission, Enhanced Long-Term Potentiation, and Impaired Learning and Memory in Mice Lacking IRSp53

(2009) M.-H. Kim et al.   JOURNAL OF NEUROSCIENCE

A DRD1 haplotype is associated with risk for autism spectrum disorders in male‐only affected sib‐pair families

(2008) Joe A. Hettinger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Association of theKIAA0319Dyslexia Susceptibility Gene With Reading Skills in the General Population

(2008) Silvia Paracchini et al.   AMERICAN JOURNAL OF PSYCHIATRY

The influence of sub-micron inhibitory clusters on growth cone substratum attachments and CD44 expression

(2008) Gerald N. Hodgkinson et al.   BIOMATERIALS

Smaller Dendritic Spines, Weaker Synaptic Transmission, but Enhanced Spatial Learning in Mice Lacking Shank1

(2008) A. Y. Hung et al.   JOURNAL OF NEUROSCIENCE

Cadherin-8 and N-cadherin differentially regulate pre- and postsynaptic development of the hippocampal mossy fiber pathway

(2007) Iddil H. Bekirov et al.   HIPPOCAMPUS