Related references
Note: Only part of the references are listed.Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome
Yingyao Shao et al.
SCIENCE TRANSLATIONAL MEDICINE (2021)
Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome
Nathan P. Achilly et al.
NATURE (2021)
Molecular basis for bipartite recognition of histone H3 by the PZP domain of PHF14
Shuangping Zheng et al.
NUCLEIC ACIDS RESEARCH (2021)
Ankyrin-R regulates fast-spiking interneuron excitability through perineuronal nets and Kv3.1b K+ channels
Sharon R. Stevens et al.
ELIFE (2021)
The Molecular Basis of MeCP2 Function in the Brain
Rebekah Tillotson et al.
JOURNAL OF MOLECULAR BIOLOGY (2020)
MeCP2 Represses the Rate of Transcriptional Initiation of Highly Methylated Long Genes
Lisa D. Boxer et al.
MOLECULAR CELL (2020)
MeCP2 Represses Enhancers through Chromosome Topology-Associated DNA Methylation
Adam W. Clemens et al.
MOLECULAR CELL (2020)
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom et al.
CELL (2020)
TCF20 dysfunction leads to cortical neurogenesis defects and autistic-like behaviors in mice
Chao Feng et al.
EMBO REPORTS (2020)
Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies
Alexander J. Sandweiss et al.
LANCET NEUROLOGY (2020)
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Erin Torti et al.
GENETICS IN MEDICINE (2019)
Using the tube test to measure social hierarchy in mice
Zhengxiao Fan et al.
NATURE PROTOCOLS (2019)
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Francesco Vetrini et al.
GENOME MEDICINE (2019)
Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009-2017
Benjamin Zablotsky et al.
PEDIATRICS (2019)
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection
Wenjun Zhou et al.
NATURE NEUROSCIENCE (2019)
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes
Manar Zaghlula et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Genome-wide distribution of linker histone H1.0 is independent of MeCP2
Aya Ito-Ishida et al.
NATURE NEUROSCIENCE (2018)
Molecular Diversity and Specializations among the Cells of the Adult Mouse Brain
Arpiar Saunders et al.
CELL (2018)
Toxicity of overexpressed MeCP2 is independent of HDAC3 activity
Martha V. Koerner et al.
GENES & DEVELOPMENT (2018)
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
Samin A. Sajan et al.
GENETICS IN MEDICINE (2017)
Prevalence and architecture of de novo mutations in developmental disorders
Jeremy F. McRae et al.
NATURE (2017)
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
Zhu Wen et al.
MOLECULAR AUTISM (2017)
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
Kezhi Yan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome
Kyla Brown et al.
HUMAN MOLECULAR GENETICS (2016)
An improved smaller biotin ligase for BioID proximity labeling
Dae In Kim et al.
MOLECULAR BIOLOGY OF THE CELL (2016)
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
Josefine S. Witteveen et al.
NATURE GENETICS (2016)
Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome
Wei-Hsiang Huang et al.
NEURON (2016)
Sequential transcriptional waves direct the differentiation of newborn neurons in the mouse neocortex
Ludovic Telley et al.
SCIENCE (2016)
Loss of MeCP2 disrupts cell autonomous and autocrine BDNF signaling in mouse glutamatergic neurons
Charanya Sampathkumar et al.
ELIFE (2016)
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2
Taimoor I. Sheikh et al.
SCIENTIFIC REPORTS (2016)
Karyopherin α 3 and Karyopherin α 4 Proteins Mediate the Nuclear Import of Methyl-CpG Binding Protein 2
Steven Andrew Baker et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides
Yehezkel Sztainberg et al.
NATURE (2015)
Rett syndrome: a complex disorder with simple roots
Matthew J. Lyst et al.
NATURE REVIEWS GENETICS (2015)
MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome
Lin Chen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder
Christian Babbs et al.
JOURNAL OF MEDICAL GENETICS (2014)
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
Vishnu Anand Cuddapah et al.
JOURNAL OF MEDICAL GENETICS (2014)
Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system
A. S. Cristino et al.
MOLECULAR PSYCHIATRY (2014)
SPBP Is a Sulforaphane Induced Transcriptional Coactivator of NRF2 Regulating Expression of the Autophagy Receptor p62/SQSTM1
Sagar Ramesh Darvekar et al.
PLOS ONE (2014)
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
Laura Dean Heckman et al.
ELIFE (2014)
Depletion of PHF14, a novel histone-binding protein gene, causes neonatal lethality in mice due to respiratory failure
Qin Huang et al.
ACTA BIOCHIMICA ET BIOPHYSICA SINICA (2013)
An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders
Steven Andrew Baker et al.
CELL (2013)
Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies
Rodney C. Samaco et al.
HUMAN MOLECULAR GENETICS (2013)
A Map of General and Specialized Chromatin Readers in Mouse Tissues Generated by Label-free Interaction Proteomics
H. Christian Eberl et al.
MOLECULAR CELL (2013)
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor
Matthew J. Lyst et al.
NATURE NEUROSCIENCE (2013)
Nuclear receptor co-repressors are required for the histone-deacetylase activity of HDAC3 in vivo
Seo-Hee You et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)
Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3
Can Liao et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome
Rodney C. Samaco et al.
NATURE GENETICS (2012)
Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses
Darren Goffin et al.
NATURE NEUROSCIENCE (2012)
Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory
Hongda Li et al.
NATURE NEUROSCIENCE (2011)
Pax6 Represses Androgen Receptor-Mediated Transactivation by Inhibiting Recruitment of the Coactivator SPBP
Julianne Elvenes et al.
PLOS ONE (2011)
Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders
Yasunari Sakai et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Estradiol reduces anxiety- and depression-like behavior of aged female mice
Alicia A. Walf et al.
PHYSIOLOGY & BEHAVIOR (2010)
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
J. L. Neul et al.
NEUROLOGY (2008)
MeCP2, a key contributor to neurological disease, activates and represses transcription
Maria Chahrour et al.
SCIENCE (2008)
MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
Hsiao-Tuan Chao et al.
NEURON (2007)
Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes
Weimin Bi et al.
HUMAN MOLECULAR GENETICS (2007)
MeCP2 interacts with HP1 and modulates its heterochromatin association during myogenic differentiation
Noopur Agarwal et al.
NUCLEIC ACIDS RESEARCH (2007)
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation
Xinsheng Nan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The disease progression mutant mice is affected of Mecp2 by the level of BDNF expression
QA Chang et al.
NEURON (2006)
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized
Thierry Bienvenu et al.
NATURE REVIEWS GENETICS (2006)
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
H Van Esch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis
N Ballas et al.
CELL (2005)
SPBP is a phosphoserine-specific repressor of estrogen receptor α
V Gburcik et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome
WM Bi et al.
HUMAN MOLECULAR GENETICS (2005)
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
AL Collins et al.
HUMAN MOLECULAR GENETICS (2004)
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
WG Chen et al.
SCIENCE (2003)
Mutations in RAI1 associated with Smith-Magenis syndrome
RE Slager et al.
NATURE GENETICS (2003)
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
J Guy et al.
NATURE GENETICS (2001)
Interaction between the transcription factor SPBP and the positive cofactor RNF4 -: An interplay between protein binding zinc fingers
C Lyngso et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)