Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation

PAX transcription factors in neural crest development

(2015) Anne H. Monsoro-Burq   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Molecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells

(2015) Tomer Halevy et al.   Stem Cell Reports

A Chromatin-Dependent Role of the Fragile X Mental Retardation Protein FMRP in the DNA Damage Response

(2014) Roman Alpatov et al.   CELL

Temporal Specification and Bilaterality of Human Neocortical Topographic Gene Expression

(2014) Mihovil Pletikos et al.   NEURON

Stem cell therapies and regenerative medicine in China

(2014) Sha Huang et al.   Science China-Life Sciences

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

(2014) Claire S. Leblond et al.   PLoS Genetics

The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery

(2014) David J. Brick et al.   Stem Cells Translational Medicine

The BAF Complex Interacts with Pax6 in Adult Neural Progenitors to Establish a Neurogenic Cross-Regulatory Transcriptional Network

(2013) Jovica Ninkovic et al.   Cell Stem Cell

Neuronatin-mediated Aberrant Calcium Signaling and Endoplasmic Reticulum Stress Underlie Neuropathology in Lafora Disease

(2013) Jaiprakash Sharma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The translation of translational control by FMRP: therapeutic targets for FXS

(2013) Jennifer C Darnell et al.   NATURE NEUROSCIENCE

FMRP Regulates Neurotransmitter Release and Synaptic Information Transmission by Modulating Action Potential Duration via BK Channels

(2013) Pan-Yue Deng et al.   NEURON

The Unstable Repeats—Three Evolving Faces of Neurological Disease

(2013) David L. Nelson et al.   NEURON

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fragile X syndrome: mechanistic insights and therapeutic avenues regarding the role of potassium channels

(2012) Hye Young Lee et al.   CURRENT OPINION IN NEUROBIOLOGY

Neural differentiation of fragile X human embryonic stem cells reveals abnormal patterns of development despite successful neurogenesis

(2012) Michael Telias et al.   DEVELOPMENTAL BIOLOGY

Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model

(2012) S. M. Goebel-Goody et al.   GENES BRAIN AND BEHAVIOR

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

(2012) Claudia Bagni et al.   JOURNAL OF CLINICAL INVESTIGATION

FMRP targets distinct mRNA sequence elements to regulate protein expression

(2012) Manuel Ascano et al.   NATURE

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

(2012) Cole Trapnell et al.   Nature Protocols

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis

(2011) Jaiprakash Sharma et al.   NEUROBIOLOGY OF DISEASE

Bidirectional Regulation of Dendritic Voltage-Gated Potassium Channels by the Fragile X Mental Retardation Protein

(2011) Hye Young Lee et al.   NEURON

Reversal of Fragile X Phenotypes by Manipulation of AβPP/Aβ Levels in Fmr1KO Mice

(2011) Cara J. Westmark et al.   PLoS One

Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome

(2011) Steven D. Sheridan et al.   PLoS One

Molecular signature of primary retinal pigment epithelium and stem-cell-derived RPE cells

(2010) Jo-Ling Liao et al.   HUMAN MOLECULAR GENETICS

Dysregulation of mTOR Signaling in Fragile X Syndrome

(2010) A. Sharma et al.   JOURNAL OF NEUROSCIENCE

Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X Syndrome

(2010) E. K. Osterweil et al.   JOURNAL OF NEUROSCIENCE

Fragile X Mental Retardation Protein Is Required for Rapid Experience-Dependent Regulation of the Potassium Channel Kv3.1b

(2010) J. G. Strumbos et al.   JOURNAL OF NEUROSCIENCE

Delayed Stabilization of Dendritic Spines in Fragile X Mice

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

Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack

(2010) Maile R Brown et al.   NATURE NEUROSCIENCE

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

(2010) David Warde-Farley et al.   NUCLEIC ACIDS RESEARCH

Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome

(2010) Feng Pan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Altered mRNA transport, docking, and protein translation in neurons lacking fragile X mental retardation protein

(2010) D.-I. Kao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fragile X Mental Retardation Protein Regulates the Levels of Scaffold Proteins and Glutamate Receptors in Postsynaptic Densities

(2009) Janin Schütt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

A census of human transcription factors: function, expression and evolution

(2009) Juan M. Vaquerizas et al.   NATURE REVIEWS GENETICS

Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

(2009) Matthew B. Johnson et al.   NEURON

A Mouse Model of the Human Fragile X Syndrome I304N Mutation

(2009) Julie B. Zang et al.   PLoS Genetics

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

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