Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome

TheMECP2variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

(2016) B. Schönewolf-Greulich et al.   CLINICAL GENETICS

Sequence features accurately predict genome-wide MeCP2 binding in vivo

(2016) H. Tomas Rube et al.   Nature Communications

Comprehensive Assessments of RNA-seq by the SEQC Consortium: FDA-Led Efforts Advance Precision Medicine

(2016) Joshua Xu et al.   Pharmaceutics

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

(2015) Meagan R. Pitcher et al.   HUMAN MOLECULAR GENETICS

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

(2015) Detelina Grozeva et al.   HUMAN MUTATION

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

(2015) Harrison W. Gabel et al.   NATURE

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

(2015) Shuang Hao et al.   NATURE

Degraded neural and behavioral processing of speech sounds in a rat model of Rett syndrome

(2015) Crystal T. Engineer et al.   NEUROBIOLOGY OF DISEASE

MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome

(2015) Lin Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deficient Purposeful Use of Forepaws in Female Mice Modelling Rett Syndrome

(2015) Bianca De Filippis et al.   NEURAL PLASTICITY

Concordance between RNA-sequencing data and DNA microarray data in transcriptome analysis of proliferative and quiescent fibroblasts

(2015) Brett Trost et al.   Royal Society Open Science

Fmr1 and Nlgn3 knockout rats: Novel tools for investigating autism spectrum disorders.

(2014) Shannon M. Hamilton et al.   BEHAVIORAL NEUROSCIENCE

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Generation ofeGFPandCreknockin rats by CRISPR/Cas9

(2014) Yuanwu Ma et al.   FEBS Journal

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

Cell-Type-Specific Repression by Methyl-CpG-Binding Protein 2 Is Biased toward Long Genes

(2014) K. Sugino et al.   JOURNAL OF NEUROSCIENCE

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

(2014) S E McCarthy et al.   MOLECULAR PSYCHIATRY

A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium

(2014)   NATURE BIOTECHNOLOGY

On the Reproducibility of TCGA Ovarian Cancer MicroRNA Profiles

(2014) Ying-Wooi Wan et al.   PLoS One

Behavioural methods used in rodent models of autism spectrum disorders: Current standards and new developments

(2013) Markus Wöhr et al.   BEHAVIOURAL BRAIN RESEARCH

Mechanisms and therapeutic challenges in autism spectrum disorders

(2013) Jorge Castro et al.   CURRENT OPINION IN NEUROLOGY

Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation

(2013) Sunita Venkateswaran et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Simultaneous generation and germline transmission of multiple gene mutations in rat using CRISPR-Cas systems

(2013) Wei Li et al.   NATURE BIOTECHNOLOGY

Heritable gene targeting in the mouse and rat using a CRISPR-Cas system

(2013) Dali Li et al.   NATURE BIOTECHNOLOGY

Loss of MeCP2 function is associated with distinct gene expression changes in the striatum

(2013) Ying-Tao Zhao et al.   NEUROBIOLOGY OF DISEASE

Genomic responses in mouse models poorly mimic human inflammatory diseases

(2013) Junhee Seok et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

(2012) Neil A Hanchard et al.   BMC Medical Genetics

Preclinical research in Rett syndrome: setting the foundation for translational success

(2012) D. M. Katz et al.   Disease Models & Mechanisms

Regional MeCP2 expression levels in the female MeCP2-deficient mouse brain correlate with specific behavioral impairments

(2012) Robert G. Wither et al.   EXPERIMENTAL NEUROLOGY

Female Mecp2+/− mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

(2012) Rodney C. Samaco et al.   HUMAN MOLECULAR GENETICS

Brain Activity Mapping in Mecp2 Mutant Mice Reveals Functional Deficits in Forebrain Circuits, Including Key Nodes in the Default Mode Network, that are Reversed with Ketamine Treatment

(2012) M. Kron et al.   JOURNAL OF NEUROSCIENCE

A call for transparent reporting to optimize the predictive value of preclinical research

(2012) Story C. Landis et al.   NATURE

Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome

(2012) Rodney C Samaco et al.   NATURE GENETICS

Daily Rhythmic Behaviors and Thermoregulatory Patterns Are Disrupted in Adult Female MeCP2-Deficient Mice

(2012) Robert G. Wither et al.   PLoS One

Acetyl-L-Carnitine Improves Behavior and Dendritic Morphology in a Mouse Model of Rett Syndrome

(2012) Laura R. Schaevitz et al.   PLoS One

The Role of MeCP2 in the Brain

(2011) Jacky Guy et al.   Annual Review of Cell and Developmental Biology

15q11.2–13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain

(2011) Dag H. Yasui et al.   HUMAN MOLECULAR GENETICS

Complexities of Rett Syndrome and MeCP2

(2011) R. C. Samaco et al.   JOURNAL OF NEUROSCIENCE

MeCP2 Is Critical within HoxB1-Derived Tissues of Mice for Normal Lifespan

(2011) C. S. Ward et al.   JOURNAL OF NEUROSCIENCE

Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

(2011) Darren Goffin et al.   NATURE NEUROSCIENCE

Modulation of RhoGTPases Improves the Behavioral Phenotype and Reverses Astrocytic Deficits in a Mouse Model of Rett Syndrome

(2011) Bianca De Filippis et al.   NEUROPSYCHOPHARMACOLOGY

Adult Neural Function Requires MeCP2

(2011) C. M. McGraw et al.   SCIENCE

Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome

(2011) M. D. McCauley et al.   Science Translational Medicine

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Targeted Genome Modification in Mice Using Zinc-Finger Nucleases

(2010) I. D. Carbery et al.   GENETICS

Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State

(2010) Peter J. Skene et al.   MOLECULAR CELL

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

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

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

(2010) Hsiao-Tuan Chao et al.   NATURE

Animal models of neuropsychiatric disorders

(2010) Eric J Nestler et al.   NATURE NEUROSCIENCE

Alterations of cortical and hippocampal EEG activity in MeCP2-deficient mice

(2010) Jennifer Anne D'Cruz et al.   NEUROBIOLOGY OF DISEASE

Correction of respiratory disorders in a mouse model of Rett syndrome

(2010) A. P. L. Abdala et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Can Animal Models of Disease Reliably Inform Human Studies?

(2010) H. Bart van der Worp et al.   PLOS MEDICINE

Differential expression analysis for sequence count data

(2010) Simon Anders et al.   GENOME BIOLOGY

Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches

(2009) Laura Ricceri et al.   BEHAVIOURAL PHARMACOLOGY

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

(2009) Shay Ben-Shachar et al.   HUMAN MOLECULAR GENETICS

Context representations, context functions, and the parahippocampal-hippocampal system

(2009) J. W. Rudy   LEARNING & MEMORY

Criteria for validating mouse models of psychiatric diseases

(2008) Kathryn K. Chadman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

(2008) A. Renieri et al.   BRAIN & DEVELOPMENT

Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism

(2008) C. S. Loat et al.   GENES BRAIN AND BEHAVIOR

A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype

(2008) Abidemi A. Adegbola et al.   HUMAN GENETICS

Neuroscience: Standard model

(2008) Jim Schnabel   NATURE

Nutritional factors in a mouse model of Rett syndrome

(2008) Nupur Nag et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

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

(2008) M. Chahrour et al.   SCIENCE