Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome

(2014) O. S. Khwaja et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Stem Cells as a Good Tool to Investigate Dysregulated Biological Systems in Autism Spectrum Disorders

(2013) Karina Griesi-Oliveira et al.   Autism Research

Monogenic mouse models of social dysfunction: Implications for autism

(2013) D. Oddi et al.   BEHAVIOURAL BRAIN RESEARCH

Transcriptome Comparison of Human Neurons Generated Using Induced Pluripotent Stem Cells Derived from Dental Pulp and Skin Fibroblasts

(2013) Jian Chen et al.   PLoS One

The Expanding Role of MBD Genes in Autism: Identification of aMECP2Duplication and Novel Alterations inMBD5,MBD6, andSETDB1

(2012) Holly N. Cukier et al.   Autism Research

Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2

(2012) Markus Wöhr et al.   BEHAVIOURAL BRAIN RESEARCH

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Modeling neurodevelopmental disorders using human neurons

(2012) Thanathom Chailangkarn et al.   CURRENT OPINION IN NEUROBIOLOGY

Hyperforin modulates dendritic spine morphology in hippocampal pyramidal neurons by activating Ca2+-permeable TRPC6 channels

(2012) Kristina Leuner et al.   HIPPOCAMPUS

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han 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

Activity-dependent BDNF release and TRPC signaling is impaired in hippocampal neurons of Mecp2 mutant mice

(2012) W. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder

(2011) Mário Campos et al.   BRAIN & DEVELOPMENT

Feeder-Free Derivation of Induced Pluripotent Stem Cells from Human Immature Dental Pulp Stem Cells

(2011) Patrícia C. B. Beltrão-Braga et al.   CELL TRANSPLANTATION

Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia

(2011) M. Poot et al.   CYTOGENETIC AND GENOME RESEARCH

Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises

(2011) M. C. Marchetto et al.   HUMAN MOLECULAR GENETICS

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

Interaction between FEZ1 and DISC1 in Regulation of Neuronal Development and Risk for Schizophrenia

(2011) Eunchai Kang et al.   NEURON

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

(2011) Stephan J. Sanders et al.   NEURON

Adult Neurogenesis in the Mammalian Brain: Significant Answers and Significant Questions

(2011) Guo-li Ming et al.   NEURON

AutismKB: an evidence-based knowledgebase of autism genetics

(2011) Li-Ming Xu et al.   NUCLEIC ACIDS RESEARCH

Autism-Associated Gene Expression in Peripheral Leucocytes Commonly Observed between Subjects with Autism and Healthy Women Having Autistic Children

(2011) Yuki Kuwano 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

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding

(2010) Silvia Sbacchi et al.   CURRENT GENOMICS

Targeting CREB signalling in neurogenesis

(2010) Sebastian Dworkin et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

Delayed Stabilization of Dendritic Spines in Fragile X Mice

(2010) A. Cruz-Martin et al.   JOURNAL OF NEUROSCIENCE

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

Evidence for a supportive role of classical transient receptor potential 6 (TRPC6) in the exploration behavior of mice

(2010) Daniel Beis et al.   PHYSIOLOGY & BEHAVIOR

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments

(2010) Randi Hagerman et al.   Molecular Autism

Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism

(2009) Christopher A. Chapleau et al.   Journal of Neurodevelopmental Disorders

Simple 2,4-Diacylphloroglucinols as Classic Transient Receptor Potential-6 Activators--Identification of a Novel Pharmacophore

(2009) K. Leuner et al.   MOLECULAR PHARMACOLOGY

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

(2009) Holly N. Cukier et al.   NEUROGENETICS

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder

(2009) Martin Poot et al.   NEUROGENETICS

DISC1 Regulates New Neuron Development in the Adult Brain via Modulation of AKT-mTOR Signaling through KIAA1212

(2009) Ju Young Kim et al.   NEURON

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Specific TRPC6 Channel Activation, a Novel Approach to Stimulate Keratinocyte Differentiation

(2008) Margarethe Müller et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TRPC6 channels promote dendritic growth via the CaMKIV-CREB pathway

(2008) Y. Tai et al.   JOURNAL OF CELL SCIENCE

Human dental pulp stem cells: from biology to clinical applications

(2008) Riccardo d'Aquino et al.   JOURNAL OF EXPERIMENTAL ZOOLOGY PART B-MOLECULAR AND DEVELOPMENTAL EVOLUTION

Human Immunodeficiency Virus Type 1 Vpr-Binding Protein VprBP, a WD40 Protein Associated with the DDB1-CUL4 E3 Ubiquitin Ligase, Is Essential for DNA Replication and Embryonic Development

(2008) C. M. McCall et al.   MOLECULAR AND CELLULAR BIOLOGY

Critical role of TRPC6 channels in the formation of excitatory synapses

(2008) Jian Zhou et al.   NATURE NEUROSCIENCE

Functional roles of TRPC channels in the developing brain

(2008) Yilin Tai et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

(2008) M. Chahrour et al.   SCIENCE