MECP2 Gene
protein-coding GIFtS : 66
GCID: GC0X M153287
methyl CpG binding protein 2 (Rett syndrome) (Previous names: mental retardation, X-linked 16, mental retardation, X-linked... ) (Previous symbols: RTT, MRX16, MRX79 )
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Aliasesfor MECP2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section This gene clusters with an RNA geneSubcategory (RNA class): lncRNAQuality score for the ORGUL clustered with this gene is 3 Aliases Methyl CpG Binding Protein 2 (Rett Syndrome) 1 2 PPMX2 5 MRX161 2 5 Mental Retardation, X-Linked 161 MRX791 2 5 Mental Retardation, X-Linked 791 RTT1 2 5 RS2 MeCp-2 Protein2 3 RTS2 AUTSX32 5 Methyl-CpG-Binding Protein 22 MRXS132 5 MeCp23 MRXSL2 5
External Ids: HGNC: 6990 1 Entrez Gene: 4204 2 Ensembl: ENSG00000169057 7 OMIM: 300005 5 UniProtKB: P51608 3 ORGUL members: NONCODE:n337397
Export aliases for MECP2 gene to outside databases Previous GC identifers: GC0XM147424 GC0XM149742 GC0XM150872 GC0XM151755 GC0XM152808 GC0XM152940 GC0XM141928
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Summariesfor MECP2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for MECP2 : DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. (provided by RefSeq, Jul 2009) UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608 Function : Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It isnot influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A Gene Wiki entry for MECP2
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Genomic Viewsfor MECP2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000023.10 NC_018934.1 NT_167198.1 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MECP2 gene promoter: TBP ISGF-3 Nkx2-5 IRF-1 STAT5A NF-Y CBF(2) C/EBPalpha Other transcription factors Search SABiosciences Chromatin IP Primers for MECP2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MECP2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28 MECP2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XM153287: view genomic region
(about GC identifiers )
Start:
153,287,024 bp from pter
End:
153,402,578 bp from pter
Size:
115,555 bases
Orientation:
minus strand
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Proteinsfor MECP2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608 (See
protein sequence )Recommended Name: Methyl-CpG-binding protein 2 Size : 486 amino acids; 52441 Da
Subunit : Interacts with FNBP3 (By similarity). Interacts with CDKL5
Subcellular location : Nucleus. Note=Colocalized with methyl-CpG in the genome
Sequence caution : Sequence=CAD97991.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for MECP2 :1QK9 (3D)
  3C2I (3D)
 
Secondary accessions : O15233 Q6QHH9 Q7Z384Alternative splicing : 2 isoforms : P51608-1 P51608-2 (Ten times higher expression levels than isoform A in brain)Explore the universe of human proteins at neXtProt for MECP2: NX_P51608 Post-translational modifications:
Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation (By similarity)1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P51608 MECP2 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (2 alternative transcripts):
NP_001104262.1 NP_004983.1 ENSEMBL proteins: ENSP00000301948 ENSP00000395535 ENSP00000384865 ENSP00000358973 ENSP00000416267 Human Recombinant Protein Products for MECP2: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
MECP2 for ontologies About GeneDecksing MECP2 Antibody Products: Assay Products for MECP2:
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Protein
Domains / Familiesfor MECP2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
MECP2 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P51608 ProtoNet protein and cluster: P51608
1 Blocks protein family : IPB001739 Methyl-CpG binding UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608 Similarity : Contains 2 A.T hook DNA-binding domainsSimilarity : Contains 1 MBD (methyl-CpG-binding) domain
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Functionfor MECP2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: MECP2_HUMAN, P51608 Function : Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It isnot influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A
Genatlas biochemistry entry for MECP2 : methyl CpG-binding protein 2,abundant chromosomal protein,murine Mecp2 homolog,that selectivity binds 5'methyl cytosine residues in symmetrically positioned GpG dinucleotides,preferentially in the promoter regions of genes subject to transcriptional silencing after DNA methylation,interacting with histone deacetylase and the transcriptional corepressor SIN3A,involved in the regulation of gene expression Gene Ontology (GO): 5/17 molecular function terms (GO ID links to tree view) (see all 17 ): About this table
MECP2 for ontologies About GeneDecksing Phenotypes: 15/17 MGI mutant phenotypes (inferred from 20 alleles ) (MGI details for Mecp2) (see all 17 ):
MECP2 for phenotypes About GeneDecksing Animal Models: Mouse knock-outs for MECP2: Mecp2 tm1Pplt Mecp2 tm1.1Jae Mecp2 tm1Jchr Mecp2 tm1Hzo Mecp2 tm1.1Bird Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MECP2 (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MECP2 (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): MECP2 (NM_004992 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MECP2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MECP2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECP2
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Pathways & Interactionsfor MECP2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Neuroscience 2 SIDS Susceptibility Pathways 3 DNA Methylation and Transcriptional Repression 4 Chromatin Regulation / Acetylation 5 GABA A receptor activation
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for MECP2 1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MECP2 2
Cell Signaling Technology (CST) Pathways for MECP2 1 BioSystems Pathway for MECP2
MECP2 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MECP2 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/53 Interacting proteins for MECP2 (P51608 1 , 2 , 3 ENSP00000395535 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 53 )About this table Gene Ontology (GO): 5/57 biological process terms (GO ID links to tree view) (see all 57 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000122 negative regulation of transcription from RNA polymerase II promoter
TAS 9620804 GO:0001662 behavioral fear response
IEA -- GO:0001666 response to hypoxia
IEA -- GO:0001964 startle response
IEA -- GO:0001976 neurological system process involved in regulation of systemic arterial blood pressure
IEA --
MECP2 for ontologies About GeneDecksing
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Drugs & Compoundsfor MECP2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
MECP2 for compounds About GeneDecksing Browse Tocris compounds for MECP2 10/18 Novoseek chemical compound relationships for MECP2 gene (see all 18 ) About this table
Search CenterWatch for drugs/clinical trials and news about MECP2
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Transcriptsfor MECP2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for MECP2 gene (2 alternative transcripts): NM_001110792.1 NM_004992.3 Unigene Clusters for MECP2:
Methyl CpG binding protein 2 (Rett syndrome) Hs.200716 [show with all ESTs ] , Hs.731393 Unigene Representative Sequences: GQ203295 , HQ154629 14 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000303391 (uc004fjv.2 uc004fjw.2 ) ENST00000453960 ENST00000407218 ENST00000486506 ENST00000369957 ENST00000496908 ENST00000464075 ENST00000495474 ENST00000415944 ENST00000488293 ENST00000463644 ENST00000460227 ENST00000481807 ENST00000480620 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MECP2 (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MECP2 (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): MECP2 (NM_004992 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MECP2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MECP2
Additional cDNA sequence: HQ154629.1
15 DOTS entries : DT.92046808 DT.92434186
DT.453173 DT.100798087 DT.92434188 DT.100730813 DT.121294059 DT.100798090 DT.121294481 DT.100831459 DT.121294031 DT.121294333 DT.75101285 DT.86846848 DT.91868594 24/269 AceView cDNA sequences (see all 269 ):
AI955326 AW407215 BM671070 BM263171 BM967227 AY541280 AA543089 Z41666 BU902034 CA436384 CR612728 R09924 BQ027224 BG741923 BC031833 AF158180 AA283823 CD516820 BM696151 AI224490 AI278296 AA351289 CB242738 BU621700 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for MECP2 About this scheme ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 SP1 :   -     -       SP2 :   -   -   -       SP3 :             SP4 :            
ECgene alternative splicing isoforms for MECP2
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Expression for MECP2 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section MECP2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CCAAGGCCAAAbout this image See MECP2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MECP2 SOURCE GeneReport for Unigene clusters: Hs.200716 Hs.731393
UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608 Tissue specificity : Present in all adult somatic tissues tested SABiosciences Expression via Pathway-Focused PCR Array including MECP2 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MECP2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat MECP2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MECP2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MECP2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECP2
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Orthologsfor MECP2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of chordates.
Orthologs for MECP2 gene from 4/12 species (see all 12 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
mouse (Mus musculus)
Mammalia
Mecp21 , 5
methyl CpG binding protein 21, 5
90.89(n) 1 95.75(a) 1
 
X (37.63 cM) 5 17257 1 NM_001081979.1 1 NP_001075448.1 1 74026592 5
lizard (Anolis carolinensis)
Reptilia
MECP26
--
72(a)
1 ↔ 1
2(88474297-88482950)
African clawed frog (Xenopus laevis)
Amphibia
MECP22
methyl-CpG-binding protein MeCP2
76.69(n)
 
AF106951.1
zebrafish (Danio rerio)
Actinopterygii
wufk96a042
Danio rerio methyl-cytosine binding protein 2 (mecp2) more
74.06(n)
 
AY298900.2
ENSEMBL Gene Tree for MECP2 (if available)TreeFam Gene Tree for MECP2 (if available)
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Paralogsfor MECP2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for MECP2 gene MBD4 2 1 SIMAP similar gene for MECP2 using alignment to 17 protein entries: MECP2_HUMAN (see all proteins ):MBD4
MECP2 for paralogs About GeneDecksing
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Genomic Variantsfor MECP2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr X pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for MECP2 (153287024 - 153402578 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for MECP2: -- Human Gene Mutation Database (HGMD) : MECP2 Locus Specific Mutation Databases (LSDB): MECP2 SABiosciences Cancer Mutation PCR Assays
1 SABiosciences qBiomarker Copy Number PCR Array containing MECP2 :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MECP2
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Disorders
/ Diseasesfor MECP2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
MECP2 for disorders About GeneDecksing OMIM gene information: 300005 OMIM disorders : 312750 300055 300673 300496 105830 300260 UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
Defects in MECP2 may be a cause of Angelman syndrome (AS) [MIM:105830]; also known as happy puppet syndrome. AS is a neurodevelopmental disorder characterized by severe mental retardation, absent speech, ataxia, sociable affect and dysmorphic facial features. AS and Rett syndrome have overlapping clinical features Defects in MECP2 are the cause of mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism Defects in MECP2 are the cause of Rett syndrome (RTT) [MIM:312750]. RTT is an X-linked dominant disease, it is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation, and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood Defects in MECP2 may be the cause of susceptibility autism X-linked type 3 (AUTSX3) [MIM:300496]. AUTSX3 is a pervasive developmental disorder (PDD), prototypically characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age Defects in MECP2 are the cause of encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2) [MIM:300673]. Note=The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations Defects in MECP2 are the cause of mental retardation syndromic X-linked Lubs type (MRXSL) [MIM:300260]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. Note=Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype 20/75 diseases for MECP2 (see all 75 ): About MalaCards mental retardation, x-linked rett syndrome rett syndrome, preserved speech variant autism susceptibility, x-linked 3 mental retardation, x-linked syndromic x inactivation attention deficit hyperactivity disorder pervasive developmental disorder ppm-x syndrome prader-willi syndrome encephalopathy, neonatal severe spinal muscular atrophy progressive multifocal leukoencephalopathy fragile x syndrome mental retardation progressive spasticity language disorder classic rett syndrome developmental disabilities bruxism asperger syndrome 6 diseases from the University of Copenhagen DISEASES database for MECP2 :Rett syndrome Intellectual disability Autistic disorder Angelman syndrome Microcephaly Gait apraxia 10/46 Novoseek disease relationships for MECP2 gene (see all 46 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
rett syndrome
99
776
19652677 (8), 14649549 (5), 18174559 (5), 17986102 (5) (see all 99 )
mental retardation
83.3
147
17084570 (4), 19806472 (4), 15814190 (4), 20163734 (4) (see all 78 )
encephalopathy neonatal
79.9
17
12719401 (2), 11930274 (2), 19559301 (2), 12447790 (1) (see all 13 )
angelman syndrome
79
19
15866439 (2), 15578581 (2), 11283202 (1), 14734626 (1) (see all 16 )
autistic
77
41
12770674 (4), 17427193 (3), 11464249 (3), 12707946 (3) (see all 23 )
severe mental retardation
72.3
13
18985075 (2), 12447790 (1), 16080119 (1), 11262731 (1) (see all 10 )
microcephaly
69
10
15939091 (1), 17936729 (1), 20142466 (1), 19090026 (1) (see all 8 )
pervasive developmental disorder
66
8
12027529 (1), 14734626 (1), 19189931 (1), 12555243 (1) (see all 5 )
neurological disorders
61.4
28
11242118 (1), 12928486 (1), 14529314 (1), 16354910 (1) (see all 20 )
infantile spasms
60.4
2
16806828 (1), 20397747 (1)
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About This Section PubMed articles for MECP2 gene, integrated from 9 sources (see all 651 ) (see top 10 ): (articles sorted by number of sources associating them with MECP2) Utopia : connect your pdf to the dynamic world of online information
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. (PubMed id 10508514) 1 , 2 , 3, 9 Amir R.E....Zoghbi H.Y. (1999) Low frequency of MECP2 mutations in mentally retarded males. (PubMed id 12111644) 1 , 2 , 4 Yntema H.G....van Bokhoven H. (2002) Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. (PubMed id 11055898) 1 , 2 , 4 Buyse I.M.... Roa B.B. (2000) MECP2 mutation analysis in patients with mental retardation. (PubMed id 15578581) 1 , 4, 9 Ylisaukko-Oja T....Jarvela I. (2005) The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males. (PubMed id 15814190) 1 , 4, 9 dos Santos J.M....Pimentel M.M. (2005) MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. (PubMed id 14529314) 1 , 4, 9 Bourdon V....Jonveaux P. (2003) Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. (PubMed id 12966522) 1 , 2 , 9 Hammer S.... Schanen N.C. (2003) MECP2 is highly mutated in X-linked mental retardation. (PubMed id 11309367) 1 , 2 , 9 Couvert P.... Cherif B. (2001) Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. (PubMed id 16080119) 1 , 2 , 9 Van Esch H.... Froyen G. (2005) The major form of MeCP2 has a novel N-terminus generated by alternative splicing. (PubMed id 15034150) 1 , 2 , 9 Kriaucionis S. and Bird A. (2004) Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. (PubMed id 12872250) 1 , 2 , 9 Miltenberger-Miltenyi G. and Laccone F. (2003) MeCP2 mutations in children with and without the phenotype of Rett syndrome. (PubMed id 11402105) 1 , 2 , 9 Hoffbuhr K.... Naidu S. (2001) Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. (PubMed id 15367913) 1 , 4, 9 Evans J.C....Butler R. (2005) CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. (PubMed id 15917271) 1 , 2 , 9 Mari F.... Landsberger N. (2005) Identification of MeCP2 mutations in a series of females with autistic disorder. (PubMed id 12770674) 1 , 2 , 9 Carney R.M.... Pericak-Vance M.A. (2003) Absence of MeCP2 mutations in patients from the South Carolina autism project. (PubMed id 12555243) 1 , 4, 9 Lobo-Menendez F....Michaelis R.C. (2003) Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. (PubMed id 10944854) 1 , 2 , 9 Amano K.... Yamakawa K. (2000) Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. (PubMed id 16183801) 1 , 4, 9 Archer H.L....Clarke A.J. (2006) [Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities] (PubMed id 15675358) 1 , 4, 9 Miura K....Wakamatsu N. (2005) Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. (PubMed id 11738883) 1 , 2 , 9 Giunti L.... Giovannucci Uzielli M.L. (2001) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. (PubMed id 15034579) 1 , 2 , 9 Mnatzakanian G.N.... Minassian B.A. (2004) Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. (PubMed id 15057977) 1 , 2 , 9 Schanen C.... Percy A. (2004) MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. (PubMed id 15211631) 1 , 4, 9 Shibayama A....Sommer S.S. (2004) A Rett syndrome MECP2 mutation that causes mental retardation in men. (PubMed id 11805248) 1 , 2 , 9 Dotti M.T.... Federico A. (2002) A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. (PubMed id 11885030) 1 , 2 , 9 Klauck S.M.... Poustka A. (2002) Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. (PubMed id 11269512) 1 , 2 , 9 Vacca M.... Hulten M. (2001) Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. (PubMed id 11376998) 1 , 2 , 9 Inui K.... Okada S. (2001) MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. (PubMed id 14560307) 1 , 4, 9 Kleefstra T....Hamel B.C. (2004) Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? (PubMed id 12325019) 1 , 2 , 9 Winnepenninckx B....Kooy R.F. (2002) Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling. (PubMed id 11896461) 1 , 2 , 9 Moncla A.... Villard L. (2002) Spectrum of MECP2 mutations in Rett syndrome. (PubMed id 12180070) 1 , 4, 9 Bienvenu T....Chelly J. (2002) Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. (PubMed id 12384770) 1 , 2 , 9 Beyer K.S....Poustka A. (2002) Mutation spectrum in patients with Rett syndrome in the German population: evidence of hot spot regions. (PubMed id 11241840) 1 , 2 , 9 Laccone F.... Meins M. (2001) MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. (PubMed id 11238684) 1 , 2 , 9 Imessaoudene B.... Amiel J. (2001) Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. (PubMed id 11283202) 1 , 2 , 9 Watson P....Clayton-Smith J. (2001) MECP2 mutation in male patients with non-specific X-linked mental retardation. (PubMed id 11007980) 1 , 2 , 9 Orrico A.... Sorrentino V. (2000) A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. (PubMed id 10986043) 1 , 2 , 9 Meloni I.... Renieri A. (2000) Mutation screening in Rett syndrome patients. (PubMed id 10745042) 1 , 2 , 9 Xiang F.... Anvret M. (2000) Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated. (PubMed id 9710633) 1 , 2 , 9 Kudo S. (1998) Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2. (PubMed id 8672133) 1 , 2 , 9 D'Esposito M.... Brown S.D.M. (1996) A novel familial MECP2 mutation in a young boy: clinical and molecular findings. (PubMed id 16966553) 1 , 2 Ventura P.... Massagli A. (2006) p.R270X MECP2 mutation and mortality in Rett syndrome. (PubMed id 16077729) 1 , 4 Jian L....Leonard H. (2005) The DNA sequence of the human X chromosome. (PubMed id 15772651) 1 , 2 Ross M.T.... Bentley D.R. (2005) Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. (PubMed id 16077736) 1 , 4 Charman T....Bailey M.E. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Mutation analysis of the MECP2 gene in patients with Rett syndrome. (PubMed id 12567420) 1 , 2 Conforti F.L.... Mangone L. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). (PubMed id 12615169) 1 , 2 Moog U.... Schrander-Stumpel C.T.R.M. (2003) Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. (PubMed id 12966523) 1 , 2 Smeets E.... Fryns J.-P. (2003) Indication for genetic testing: a checklist for Rett syndrome. (PubMed id 12640384) 1 , 4 Huppke P....Hanefeld F. (2003) Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. (PubMed id 12075485) 1 , 4 Huppke P....Laccone F. (2002) [Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome] (PubMed id 12030010) 1 , 4 Kondo I. and Yamagata H. (2002) MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. (PubMed id 12161600) 1 , 2 Laccone F.... Trappe R. (2002) Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. (PubMed id 11706982) 1 , 2 Armstrong J....Monros E. (2001) Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions. (PubMed id 10723722) 1 , 2 Reichwald K.... Kioschis P. (2000) Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. (PubMed id 10767337) 1 , 2 Cheadle J.P.... Clarke A. (2000) MECP2 mutations account for most cases of typical forms of Rett syndrome. (PubMed id 10814719) 1 , 2 Bienvenu T.... Chelly J. (2000) Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. (PubMed id 10991689) 1 , 2 Hampson K.... Webb T. (2000) Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. (PubMed id 10991688) 1 , 2 Obata K.... Kondo I. (2000) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. (PubMed id 10577905) 1 , 2 Wan M.... Francke U. (1999) The solution structure of the domain from MeCP2 that binds to methylated DNA. (PubMed id 10518942) 1 , 2 Wakefield R.I.... Barlow P.N. (1999) A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3'-untranslated region of the methyl- CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression. (PubMed id 10369871) 1 , 2 Coy J.F.... Poustka A. (1999) Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization. (PubMed id 8976388) 1 , 2 Vilain A.... Malfoy B. (1996) Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. (PubMed id 1606614) 1 , 3 Lewis J.D....Bird A. (1992) Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. (PubMed id 17486179) 1 , 9 Nagarajan R.P....LaSalle J.M. (2006) Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism. (PubMed id 19000991) 1 , 9 Swanberg S.E....LaSalle J.M. (2009) Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain. (PubMed id 14649549) 1 , 9 Armstrong D.D....Antallfy B. (2003) Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. (PubMed id 19333917) 1 , 9 Webb R....Sawalha A.H. (2009) Genetic modifiers of MeCP2 function in Drosophila. (PubMed id 18773074) 1 , 9 Cukier H.N....Botas J. (2008) Spectrum of MECP2 mutations in New Zealand Rett syndr ome patients. (PubMed id 19652677) 1 , 9 Raizis A.M....George P.M. (2009) Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. (PubMed id 18842453) 1 , 9 Buoni S....Hayek J. (2008) Identification of cis-regulatory elements for MECP2 expression. (PubMed id 16613900) 1 , 9 Liu J. and Francke U. (2006) Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. (PubMed id 16682435) 1 , 9 Peddada S....LaSalle J.M. (2006) A novel protein, Xenopus p20, influences the stability of MeCP2 through direct interaction. (PubMed id 15056664) 1 , 9 Carro S....Landsberger N. (2004) Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. (PubMed id 12545250) 1 , 9 Balmer D....LaSalle J.M. (2003) The role of MeCP2 in brain development and neurodevel opmental disorders. (PubMed id 20425298) 1 , 9 Gonzales M.L. and LaSalle J.M. (2010) Autism and other neuropsychiatric symptoms are preval ent in individuals with MeCP2 duplication syndrome. (PubMed id 20035514) 1 , 9 Ramocki M.B....Zoghbi H.Y. (2009) DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. (PubMed id 17701895) 1 , 9 Schule B....Francke U. (2007) MeCP2 deficiency in the brain decreases BDNF levels by REST/CoREST-mediated repression and increases TRKB production. (PubMed id 18075316) 1 , 9 Abuhatzira L....Shemer R. (2007) Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions. (PubMed id 12535940) 1 , 9 Aber K.M....Kaufmann W.E. (2003) MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form. (PubMed id 14649548) 1 , 9 Jarrar M.H....Kaufmann W.E. (2003) Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. (PubMed id 11809720) 1 , 9 Shahbazian M.D....Zoghbi H.Y. (2002) The latency-associated nuclear antigen interacts with MeCP2 and nucleosomes through separate domains. (PubMed id 20032179) 1 , 9 Matsumura S....Wilson A.C. (2010) [Methyl-CpG-binding protein 2 gene and CDKL5 gene mut ation in patients with Rett syndrome: analysis of 177 Chinese pediatric patient s] (PubMed id 19552836) 1 , 9 Li M.R....Wu X.R. (2009) MeCP2 involvement in the regulation of neuronal alpha-tubulin production. (PubMed id 19174478) 1 , 9 Abuhatzira L....Razin A. (2009) Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. (PubMed id 19386901) 1 , 9 Maezawa I....Jin L.W. (2009) Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. (PubMed id 18985075) 1 , 9 Lugtenberg D....de Brouwer A.P. (2008) Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. (PubMed id 17172942) 1 , 9 del Gaudio D....Roa B.B. (2006) Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. (PubMed id 16473305) 1 , 9 Philippe C....Bienvenu T. (2006) Large genomic rearrangements in MECP2. (PubMed id 15712379) 1 , 9 Ravn K....Schwartz M. (2005) Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. (PubMed id 12843318) 4, 9 Kudo S....Tamura M. (2003) High frequency of nonrecurrent MECP2 duplications amo ng Brazilian males with mental retardation. (PubMed id 19806472) 1 , 9 Campos M....Pimentel M.M. (2010) Partial silencing of methyl cytosine protein binding 2 (MECP2) in mesenchymal stem cells induces senescence with an increase in dama ged DNA. (PubMed id 20065105) 1 , 9 Squillaro T....Galderisi U. (2010) Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. (PubMed id 19442733) 1 , 9 Chapleau C.A....Pozzo-Miller L. (2009) MECP2 mutations in Serbian Rett syndrome patients. (PubMed id 17986102) 1 , 9 Djarmati A....Romac S. (2007) MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. (PubMed id 17427193) 1 , 9 Coutinho A.M....Vicente A.M. (2007) MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. (PubMed id 17089071) 1 , 9 Li M.R....Wu X.R. (2007) Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. (PubMed id 15351775) 1 , 9 Collins A.L....Zoghbi H.Y. (2004) MeCP2 and MBD2 expression in human neoplastic and non-neoplastic breast tissue and its association with oestrogen receptor status. (PubMed id 14612906) 1 , 9 Muller H.M....Widschwendter M. (2003) Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription. (PubMed id 11691937) 1 , 9 Yu F....Stratling W.H. (2001) [Analysis of the parental origin of MECP2 mutations i n patients with Rett syndrome] (PubMed id 20376788) 1 , 9 Zhang J.J....Wu X.R. (2010) Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MEC P2 variant p.V122A: akin to the new MECP2 duplication syndrome? (PubMed id 19592282) 1 , 9 McWilliam C....Tolmie J.L. (2010) MECP2 mutations in Malaysian Rett syndrome patients. (PubMed id 19495527) 1 , 9 Fong C.B....Ariffin R. (2009) [Research progress of Rett syndrome causing gene MECP 2--the structure, function and modulation of MECP2] (PubMed id 20019788) 1 , 9 Zhang J.J. and Bao X.H. (2009) The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. (PubMed id 18434641) 1 , 9 Nectoux J....Bienvenu T. (2008) Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism. (PubMed id 19125863) 1 , 9 Loat C.S....Craig I.W. (2008) Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. (PubMed id 18190595) 1 , 9 Takahashi S....Fujieda K. (2008) MeCP2 gene mutation analysis in autistic boys with developmental regression. (PubMed id 17413451) 1 , 9 Xi C.Y....Ji Y.H. (2007) Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations. (PubMed id 17420401) 1 , 9 Temudo T....Maciel P. (2007) Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males. (PubMed id 17084570) 1 , 9 Campos M....Pimentel M.M. (2007) MECP2 mutations in males. (PubMed id 17351020) 1 , 9 Villard L. (2007) [MECP2 gene mutations in twenty-six cases with atypical Rett syndrome] (PubMed id 16780651) 1 , 9 Li M.R....Wu X.R. (2006) Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. (PubMed id 17088400) 1 , 9 Friez M.J....Stevenson R.E. (2006) MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution. (PubMed id 16182491) 1 , 9 Kaufmann W.E....Blue M.E. (2005) MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. (PubMed id 15757975) 1 , 9 Makedonski K....Shemer R. (2005) The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation. (PubMed id 12427740) 1 , 9 Fuks F....Kouzarides T. (2003) Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1. (PubMed id 12473678) 1 , 9 Kimura H. and Shiota K. (2003) Somatic mosaicism for a MECP2 mutation associated wit h classic Rett syndrome in a boy. (PubMed id 11896459) 1 , 9 TopAsu M....OzAselik T. (2002) Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. (PubMed id 18477000) 1 , 9 Schule B....Francke U. (2008) Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. (PubMed id 18337588) 1 , 9 Neul J.L....Glaze D.G. (2008) Silencing of MBD1 and MeCP2 in prostate-cancer-derived PC3 cells produces differential gene expression profiles and cellular phenotypes. (PubMed id 18666890) 1 , 9 Yaqinuddin A....Qureshi S.A. (2008) MeCP2 interacts with HP1 and modulates its heterochromatin association during myogenic differentiation. (PubMed id 17698499) 1 , 9 Agarwal N....Cardoso M.C. (2007) Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. (PubMed id 17296936) 1 , 9 Nan X....Bird A. (2007) Rett syndrome: North American database. (PubMed id 18174548) 1 , 9 Percy A.K....MacLeod P. (2007) The incidence of Rett syndrome in France. (PubMed id 16647997) 1 , 9 Bienvenu T....Villard L. (2006) Study of MECP2 gene in Rett syndrome variants and autistic girls. (PubMed id 12707946) 1 , 9 Zappella M....Renieri A. (2003) Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. (PubMed id 11432961) 1 , 9 Villard L....Fontes M. (2001) Linking MECP2 and pain sensitivity: the example of Re tt syndrome. (PubMed id 20425824) 1 , 9 Downs J....Leonard H. (2010) A novel MECP2 mutation in a boy with neonatal encepha lopathy and facial dysmorphism. (PubMed id 19559301) 1 , 9 JA1lich K....Auber B. (2009) Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation. (PubMed id 18688080) 1 , 9 Santos M....Maciel P. (2008) 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. (PubMed id 17339270) 1 , 9 Hogart A....Lasalle J.M. (2007) Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. (PubMed id 17387578) 1 , 9 Zahorakova D....Martasek P. (2007) Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. (PubMed id 16672765) 1 , 9 Kim I.J....Kim C.M. (2006) Early progressive encephalopathy in boys and MECP2 mutations. (PubMed id 16832102) 1 , 9 Kankirawatana P....Percy A.K. (2006) Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. (PubMed id 14974082) 1 , 9 Laccone F....Ravine D. (2004) Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. (PubMed id 14981718) 1 , 9 Hitchins M.P....Malcolm S. (2004) Expression of Dnmt1, demethylase, MeCP2 and methylation of tumor-related genes in human gastric cancer. (PubMed id 15526354) 1 , 9 Fang J.Y....Lu L.G. (2004) MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. (PubMed id 11930274) 1 , 9 Geerdink N....Hamel B.C. (2002) Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome. (PubMed id 11955928) 1 , 9 Khong P.L....Wong V.C. (2002) [Mutational analysis of MECP2 gene in Rett syndrome] (PubMed id 12170461) 1 , 9 Pan H....Wu X. (2002) Familial interstitial Xq27.3q28 duplication encompass ing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardat ion condition. (PubMed id 19844254) 1 , 9 Rio M....Colleaux L. (2010) The MECP2 duplication syndrome. (PubMed id 20425814) 1 , 9 Ramocki M.B....Peters S.U. (2010) Chromosome 21-derived microRNAs provide an etiologica l basis for aberrant protein expression in human Down syndrome brains. (PubMed id 19897480) 1 , 9 Kuhn D.E....Elton T.S. (2010) Unique physical properties and interactions of the do mains of methylated DNA binding protein 2. (PubMed id 20405910) 1 , 9 Ghosh R.P....Woodcock C.L. (2010) Downstream targets of methyl CpG binding protein 2 an d their abnormal expression in the frontal cortex of the human Rett syndrome br ain. (PubMed id 20420693) 1 , 9 Gibson J.H....Christodoulou J. (2010) Phenotypic and genotypic variability in four males wi th MECP2 gene sequence aberrations including a novel deletion. (PubMed id 20098342) 1 , 9 Psoni S....Fryssira-Kanioura H. (2010) Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection. (PubMed id 19057379) 1 , 9 Prescott T.E....Stray-Pedersen A. (2009) Variation in novel exons (RACEfrags) of the MECP2 gen e in Rett syndrome patients and controls. (PubMed id 19562714) 1 , 9 Makrythanasis P....Antonarakis S.E. (2009) The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. (PubMed id 19018795) 1 , 9 Kirk E.P....Badens C. (2009) Methyl-CpG-binding Protein 2 (MECP2) Gene Mutations in an Italian Sample of Patients With Pervasive Developmental Disorder and Mental Retardation. (PubMed id 19189931) 1 , 9 Parmeggiani A....Sangiorgi S. (2009) Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. (PubMed id 19365833) 1 , 9 Saunders C.J....Vincent J.B. (2009) A novel MECP2 gene mutation in a Tunisian patient wit h Rett syndrome. (PubMed id 19309283) 1 , 9 Fendri-Kriaa N....Fakhfakh F. (2009) Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. (PubMed id 19324899) 1 , 9 Carvalho C.M....Lupski J.R. (2009) A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. (PubMed id 18989701) 1 , 9 Adegbola A.A....Cox G.F. (2009) The Odyssey of MeCP2 and parental imprinting. (PubMed id 17965611) 1 , 9 LaSalle J.M. (2007) Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. (PubMed id 18174559) 1 , 9 Wong V.C. and Li S.Y. (2007) Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. (PubMed id 17383248) 1 , 9 Lesca G....Calender A. (2007) The odyssey of MeCP2 and parental imprinting. (PubMed id 17486180) 1 , 9 LaSalle J.M. (2007) FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice. (PubMed id 17309881) 1 , 9 Deng V....Ojeda S.R. (2007) Sequence variants within exon 1 of MECP2 occur in females with mental retardation. (PubMed id 17171659) 1 , 9 Harvey C.G....Vincent J.B. (2007) Spatio-temporal dynamics and localization of MeCP2 and pathological mutants in living cells. (PubMed id 17965612) 1 , 9 Marchi M....Costa M. (2007) Male Rett phenotypes in T158M and R294X MeCP2-mutations. (PubMed id 17236109) 1 , 9 Lundvall M....Kyllerman M. (2006) Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation. (PubMed id 16879196) 1 , 9 Tejada M.I....Mila M. (2006) The methyl-CpG-binding protein MECP2 is required for prostate cancer cell growth. (PubMed id 16331274) 1 , 9 Bernard D....de Launoit Y. (2006) Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing. (PubMed id 15696166) 1 , 9 Harikrishnan K.N....El-Osta A. (2005) Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. (PubMed id 15689435) 1 , 9 Meins M....Epplen J.T. (2005) Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome. (PubMed id 15954098) 1 , 9 Bapat S. and Galande S. (2005) Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples. (PubMed id 15689352) 1 , 9 Thatcher K.N....Lasalle J.M. (2005) DNA binding of methyl-CpG-binding protein MeCP2 in hu man MCF7 cells. (PubMed id 15109260) 1 , 9 Koch C. and StrAotling W.H. (2004) A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. (PubMed id 14618241) 1 , 9 Buschdorf J.P. and Stratling W.H. (2004) Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. (PubMed id 15557528) 1 , 9 Leuzzi V....Seri S. (2004) MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. (PubMed id 14598336) 1 , 9 Gomot M....Moraine C. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. (PubMed id 14593184) 1 , 9 Martinowich K....Sun Y.E. (2003) Methyl-CpG-DNA binding proteins in human prostate cancer: expression of CXXC sequence containing MBD1 and repression of MBD2 and MeCP2. (PubMed id 12646234) 1 , 9 Patra S.K....Dahiya R. (2003) Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation. (PubMed id 11836365) 1 , 9 Kudo S....Tamura M. (2002) HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences. (PubMed id 11748221) 1 , 9 Dintilhac A. and Bernues J. (2002) Infantile hypotonia as a presentation of Rett syndrome. (PubMed id 12210319) 1 , 9 Heilstedt H.A....Lee B. (2002) Rett syndrome: clinical manifestations in males with MECP2 mutations. (PubMed id 11913564) 1 , 9 Zeev B.B....Orr-Urtreger A. (2002) In-frame deletion in MECP2 causes mild nonspecific mental retardation. (PubMed id 11807877) 1 , 9 Yntema H.G....Moraine C. (2002) Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. (PubMed id 10814718) 1 , 9 Huppke P....Hanefeld F. (2000) MeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery. (PubMed id 10756192) 1 , 9 Kaludov N.K. and Wolffe A.P. (2000) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. (PubMed id 9038338) 1 , 9 Nan X....Bird A. (1997) MECP2 mutations and clinical correlations in Greek chi ldren with Rett syndrome and associated neurodevelopmental disorders. (PubMed id 21982064) 1 Psoni S....Fryssira-Kanioura H. (2012) Drosophila as a model for MECP2 gain of function in ne urons. (PubMed id 22363746) 1 Vonhoff F....Duch C. (2012) Molecular diagnostic dilemmas in Rett syndrome. (PubMed id 22277191) 1 Zvereff V....Friedman K.J. (2012) Novel double deletions in the MECP2 gene in Tunisian R ett patient. (PubMed id 22561697) 1 Fendri-Kriaa N....Fakhfakh F. (2012) The phenotype associated with a large deletion on MECP 2. (PubMed id 22473088) 1 Bebbington A....Leonard H. (2012) Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients. (PubMed id 21940684) 1 Fendri-Kriaa N....Fakhfakh F. (2012) Novel non-identical MECP2 mutations in Rett syndrome f amily: a rare presentation. (PubMed id 21300488) 1 Khajuria R....Kabra M. (2012) Subclinical myocardial dysfunction in Rett syndrome. (PubMed id 22113206) 1 De Felice C....Hayek J. (2012) Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606) 1 Lin Y.Y....Boeke J.D. (2012) A case report of Chinese brothers with inherited MECP2 -containing duplication: autism and intellectual disability, but not seizures or respiratory infections. (PubMed id 22909152) 1 Xu X....Yu X. (2012) Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. (PubMed id 22578097) 1 Vignoli A....Canevini M.P. (2012) The expression patterns and correlations of claudin-6, methy-CpG binding protein 2, DNA methyltransferase 1, histone deacetylase 1, ac etyl-histone H3 and acetyl-histone H4 and their clinicopathological significance in breast invasive ductal carcinomas. (PubMed id 22455563) 1 Xu X....Quan C. (2012) Phosphorylation of distinct sites in MeCP2 modifies co factor associations and the dynamics of transcriptional regulation. (PubMed id 22615490) 1 Gonzales M.L....LaSalle J.M. (2012) Knock-down of methyl CpG-binding protein 2 (MeCP2) cau ses alterations in cell proliferation and nuclear lamins expression in mammalian cells. (PubMed id 22783988) 1 Babbio F....Bonapace I.M. (2012) Genetic and epileptic features in Rett syndrome. (PubMed id 22476991) 1 Kim H.J....Kang H.C. (2012) Reduced expression of MECP2 affects cell commitment an d maintenance in neurons by triggering senescence: new perspective for Rett synd rome. (PubMed id 22357617) 1 Squillaro T....Galderisi U. (2012) Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities. (PubMed id 22123427) 1 Sanmann J.N....Sanger W.G. (2012) A census of human soluble protein complexes. (PubMed id 22939629) 1 Havugimana P.C....Emili A. (2012) MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys. (PubMed id 21821449) 1 Tang S.S....Fallon P. (2012) Up-regulated methyl CpG binding protein-2 in intractab le temporal lobe epilepsy patients and a rat model. (PubMed id 22707285) 1 Tao S....Wang X. (2012) Mutations in MECP2 exon 1 in classical Rett patients d isrupt MECP2_e1 transcription, but not transcription of MECP2_e2. (PubMed id 22213695) 1 Gianakopoulos P.J....Vincent J.B. (2012) Molecular screening of MECP2 gene in a cohort of Leban ese patients suspected with Rett syndrome: report on a mild case with a novel in del mutation. (PubMed id 21954873) 1 Corbani S....Megarbane A. (2012) The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of di stal breakpoints. (PubMed id 22528406) 1 Honda S....Inazawa J. (2012) Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant. (PubMed id 22348320) 1 Marschik P.B....Einspieler C. (2012) Rett syndrome mutation MeCP2 T158A disrupts DNA bindin g, protein stability and ERP responses. (PubMed id 22119903) 1 Goffin D....Zhou Z. (2012) The Rett syndrome protein MeCP2 regulates synaptic sca ling. (PubMed id 22262897) 1 Qiu Z....Ghosh A. (2012) Gastrointestinal and nutritional problems occur freque ntly throughout life in girls and women with Rett syndrome. (PubMed id 22331013) 1 Motil K.J....Glaze D.G. (2012) Linking epigenetics to human disease and Rett syndrome : the emerging novel and challenging concepts in MeCP2 research. (PubMed id 22474603) 1 Zachariah R.M. and Rastegar M. (2012) Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome. (PubMed id 22532851) 1 Okabe Y....Matsuishi T. (2012) The stress oncoprotein LEDGF/p75 interacts with the me thyl CpG binding protein MeCP2 and influences its transcriptional activity. (PubMed id 22275515) 1 Leoh L.S....Casiano C.A. (2012) A mouse model for MeCP2 duplication syndrome: MeCP2 ov erexpression impairs learning and memory and synaptic transmission. (PubMed id 22378884) 1 Na E.S....Monteggia L.M. (2012) Cell-autonomous alterations in dendritic arbor morphol ogy and connectivity induced by overexpression of MeCP2 in Xenopus central neuro ns in vivo. (PubMed id 22427975) 1 Marshak S....Cohen-Cory S. (2012) A critical and cell-autonomous role for MeCP2 in synap tic scaling up. (PubMed id 23015442) 1 Blackman M.P....Turrigiano G.G. (2012) Concomitant microduplications of MECP2 and ATRX in mal e patients with severe mental retardation. (PubMed id 22129561) 1 Honda S....Inazawa J. (2012) Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome. (PubMed id 21316312) 1 Lioy D.T....Bissonnette J.M. (2011) Co-localization of the oncogenic transcription factor MYCN and the DNA methyl binding protein MeCP2 at genomic sites in neuroblastom a. (PubMed id 21731748) 1 Murphy D.M....Stallings R.L. (2011) Analysis of MECP2 gene copy number in boys with autis m. (PubMed id 21531908) 1 Xi C.Y....Gao H. (2011) System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692) 2 Rigbolt K.T....Blagoev B. (2011) Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial. (PubMed id 21654506) 1 Freilinger M....Bodamer O.A. (2011) De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. (PubMed id 21326285) 1 Grasshoff U....Wieczorek D. (2011) A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473) 1 Wagner S.A....Choudhary C. (2011) Complexities of Rett syndrome and MeCP2. (PubMed id 21632916) 1 Samaco R.C. and Neul J.L. (2011) The protocadherins, PCDHB1 and PCDH7, are regulated b y MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Re tt syndrome. (PubMed id 21824415) 1 Miyake K....Kubota T. (2011) Rett syndrome: exploring the autism link. (PubMed id 21825235) 1 Percy A.K. (2011) Fa88-neuroprostanes mediate neurological severity in Re tt syndrome. (PubMed id 21530498) 1 Signorini C....Hayek J. (2011) The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice. (PubMed id 22009741) 1 Abuhatzira L....Bustin M. (2011) High expression of MeCP2 in JC virus-infected cells o f progressive multifocal leukoencephalopathy brains. (PubMed id 20497345) 1 Shirai S....Tanaka S. (2011) Change in gross motor abilities of girls and women wi th rett syndrome over a 3- to 4-year period. (PubMed id 21636779) 1 Foley K.R....Leonard H. (2011) MeCP2 Rett mutations affect large scale chromatin org anization. (PubMed id 21831886) 1 Agarwal N....Cardoso M.C. (2011) Isolation of MECP2-null Rett Syndrome patient hiPS ce lls and isogenic controls through X-chromosome inactivation. (PubMed id 21372149) 1 Cheung A.Y....Ellis J. (2011) Histone modifications and methyl-CpG-binding domain pr otein levels at the TNFSF7 (CD70) promoter in SLE CD4+ T cells. (PubMed id 21865261) 1 Zhou Y....Lu Q. (2011) Biophysical analysis and small-angle X-ray scattering- derived structures of MeCP2-nucleosome complexes. (PubMed id 21278419) 1 Yang C....Luger K. (2011) DNA binding restricts the intrinsic conformational fl exibility of methyl CpG binding protein 2 (MeCP2). (PubMed id 21467044) 1 Hansen J.C....Black B.E. (2011) MECP2 duplications in six patients with complex sex c hromosome rearrangements. (PubMed id 21119712) 1 Breman A.M....Cheung S.W. (2011) Essential role of MeCP2 in the regulation of myofibro blast differentiation during pulmonary fibrosis. (PubMed id 21435439) 1 Hu B....Phan S.H. (2011) Oxidative stress in Rett syndrome: natural history, g enotype, and variants. (PubMed id 21888765) 1 Leoncini S....Hayek J. (2011) Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients . (PubMed id 20881011) 1 Webb R....Sawalha A.H. (2011) De novo deletion in MECP2 in a monozygotic twin pair: a case report. (PubMed id 21871116) 1 Mittal K....BK T. (2011) Two new Rett syndrome families and review of the lite rature: expanding the knowledge of MECP2 frameshift mutations. (PubMed id 21878110) 1 Ravn K....Skjeldal O.H. (2011) Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. (PubMed id 20661168) 1 Shapiro J.R....Naidu S. (2010) Systematic resequencing of X-chromosome synaptic gene s in autism spectrum disorder and schizophrenia. (PubMed id 20479760) 1 Piton A....Rouleau G.A. (2010) Mutational analysis of the MECP2 gene in Tunisian pat ients with Rett syndrome: a novel double mutation. (PubMed id 20631224) 1 Fendri-Kriaa N....Fakhfakh F. (2010) Rett syndrome with and without detected MECP2 mutatio ns: An attempt to redefine phenotypes. (PubMed id 20116947) 1 Temudo T....Maciel P. (2010) The MeCP2/YY1 interaction regulates ANT1 expression a t 4q35: novel hints for Rett syndrome pathogenesis. (PubMed id 20504995) 1 Forlani G....Landsberger N. (2010) Genetic association between methyl-CpG binding protei n 2 (MECP2) and primary Sjogren's syndrome. (PubMed id 20215141) 1 Cobb B.L....Sawalha A.H. (2010) Epilepsy in Rett syndrome---the experience of a Natio nal Rett Center. (PubMed id 20491871) 1 Nissenkorn A....Ben Zeev B. (2010) Profiling scoliosis in Rett syndrome. (PubMed id 20032810) 1 Percy A.K....Glaze D.G. (2010) Epigenetic silencing of peroxisome proliferator-activ ated receptor I^ is a biomarker for colorectal cancer progression and adverse pa tients' outcome. (PubMed id 21151932) 1 Pancione M....Colantuoni V. (2010) Updating the profile of C-terminal MECP2 deletions in Rett syndrome. (PubMed id 19914908) 1 Bebbington A....Leonard H. (2010) Epilepsy in Rett syndrome: clinical and genetic featu res. (PubMed id 20728410) 1 Pintaudi M....Veneselli E. (2010) Analysis of the parental origin of de novo MECP2 muta tions and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China. (PubMed id 20207612) 1 Zhu X....Wu X. (2010) The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636) 1 Giannone R.J....Liu Y. (2010) Up-regulation of the mu-opioid receptor gene is media ted through chromatin remodeling and transcriptional factors in differentiated neuronal cells. (PubMed id 20385708) 1 Hwang C.K....Loh H.H. (2010) Cross talk between microRNA and epigenetic regulation in adult neurogenesis. (PubMed id 20368621) 1 Szulwach K.E....Jin P. (2010) MeCP2 deficiency downregulates specific nuclear prote ins that could be partially recovered by valproic acid in vitro. (PubMed id 20093853) 1 Vecsler M....Gak E. (2010) The role of calcium-dependent gene expression in auti sm spectrum disorders: lessons from MeCP2, Ube3a and beyond. (PubMed id 20956852) 1 Qiu Z. and Cheng J. (2010) L1 retrotransposition in neurons is modulated by MeCP 2. (PubMed id 21085180) 1 Muotri A.R....Gage F.H. (2010) Alternative polyadenylation of MeCP2: Influence of ci s-acting elements and trans-acting factors. (PubMed id 20400852) 1 Newnham C.M....Lutz C.S. (2010) A novel transcriptional regulator of myelin gene expression: implications for neurodevelopmental disorders. (PubMed id 20697302) 1 Vora P....Frost E.E. (2010) Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231) 2 Olsen J.V....Mann M. (2010) Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086) 1 Bailey S.D....Anand S. (2010) Ocular MECP2 protein expression in patients with and without Rett syndrome. (PubMed id 20682201) 1 Jain D....Eberhart C.G. (2010) Level of purposeful hand function as a marker of clin ical severity in Rett syndrome. (PubMed id 20345957) 1 Downs J....Leonard H. (2010) Deciphering Rett syndrome with mouse genetics, epigen omics, and human neurons. (PubMed id 19900619) 1 Tao J....Sun Y.E. (2009) Rett syndrome and long-term disorder profile. (PubMed id 19133691) 1 Smeets E.E....Frijns J.P. (2009) Autoimmunity and Klinefelter's syndrome: when men hav e two X chromosomes. (PubMed id 19464849) 1 Sawalha A.H....Scofield R.H. (2009) MECP2 mutation in one of Rett's original patients. (PubMed id 19724012) 1 Freilinger M....Haas O.A. (2009) Neurologic aspects of MECP2 gene duplication in male patients. (PubMed id 19664534) 1 Echenne B....de Brouwer A.P. (2009) A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789) 1 de Krom M....van Ree J.M. (2009) Loss of MeCP2 in aminergic neurons causes cell-autono mous defects in neurotransmitter synthesis and specific behavioral abnormalitie s. (PubMed id 20007372) 1 Samaco R.C....Neul J.L. (2009) Brain metabolism in Rett syndrome: age, clinical, and genotype correlations. (PubMed id 19194883) 1 HorskA! A....Naidu S. (2009) Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201) 1 Abdelmohsen K....Gorospe M. (2009) A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations. (PubMed id 19309269) 1 Baris I. and Battaloglu E. (2009) A moment's pause: putative nucleosome-based influence s on MeCP2 regulation. (PubMed id 19898528) 1 Thambirajah A.A. and AusiA^ J. (2009) Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121) 1 Talmud P.J.... . (2009) Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients. (PubMed id 19168818) 1 Santos M....Maciel P. (2009) Genotype-phenotype correlation in Brazillian Rett syn drome patients. (PubMed id 19722030) 1 Lima F.T....Pereira L.d.a. .V. (2009) A common MECP2 haplotype associates with reduced cort ical surface area in humans in two independent populations. (PubMed id 19717458) 1 Joyner A.H....Dale A.M. (2009) Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332) 2 Mayya V.... Han D.K. (2009) Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. (PubMed id 20031356) 1 Monnerat L.S....Vargas F.R. (2009) [Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome] (PubMed id 19573459) 1 Li M.R....Wu X.R. (2009) Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics. (PubMed id 19190538) 1 Brendel C....Huppke P. (2009) Methyl-CpG-binding protein 2 is phosphorylated by hom eodomain-interacting protein kinase 2 and contributes to apoptosis. (PubMed id 19820693) 1 Bracaglia G....Kilstrup-Nielsen C. (2009) Interaction between the inner nuclear membrane lamin B receptor and the heterochromatic methyl binding protein, MeCP2. (PubMed id 19331822) 1 Guarda A....Badaracco G. (2009) Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission. (PubMed id 19058783) 1 Monteggia L.M. and Kavalali E.T. (2009) The first missense mutation causing Rett syndrome spe cifically affecting the MeCP2_e1 isoform. (PubMed id 19034540) 1 Fichou Y....Bienvenu T. (2009) System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022) 1 Golebiowski F....Hay R.T. (2009) Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861) 2 Choudhary C.... Mann M. (2009) Recurrent rearrangements in synaptic and neurodevelop mental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351) 1 Guilmatre A....Campion D. (2009) Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348) 1 Barbe L....Andersson-Svahn H. (2008) Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. (PubMed id 18512755) 1 Temudo T....Maciel P. (2008) Early determinants of fractures in Rett syndrome. (PubMed id 18310203) 1 Downs J....Leonard H. (2008) MECP2 genomic structure and function: insights from ENCODE. (PubMed id 18820302) 1 Singh J....Ravine D. (2008) Multiple de novo mutations in the MECP2 gene. (PubMed id 18652533) 1 Bunyan D.J. and Robinson D.O. (2008) Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. (PubMed id 18385275) 1 Bauters M....Froyen G. (2008) Common variants within MECP2 confer risk of systemic lupus erythematosus. (PubMed id 18320046) 1 Sawalha A.H....Harley J.B. 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(PubMed id 15841480) 9 Shi J....Sommer S.S. (2005) CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. (PubMed id 16330482) 9 Lin C....Rosner M.R. (2005) Methyl-CpG binding proteins in the nervous system. (PubMed id 15857580) 9 Fan G. and Hutnick L. (2005) MECP2 abnormality phenotypes: clinicopathologic area with broad variability. (PubMed id 16225826) 9 Erlandson A. and Hagberg B. (2005) Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. (PubMed id 15737703) 9 Fukuda T....Kondo I. (2005) MeCP2 and promoter methylation cooperatively regulate E-cadherin gene expression in colorectal carcinoma. (PubMed id 12824891) 9 Darwanto A....Kitazawa S. (2003) Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. (PubMed id 12872251) 9 Schollen E....Matthijs G. (2003) Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. (PubMed id 12719401) 9 Lynch S.A....Ravine D. (2003) Effects of MECP2 mutation type, location and X-inacti vation in modulating Rett syndrome phenotype. (PubMed id 12655490) 9 Weaving L.S....Christodoulou J. (2003) MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. (PubMed id 12325033) 9 Yaron Y....Orr-Urtreger A. (2002) Mice with truncated MeCP2 recapitulate many Rett synd rome features and display hyperacetylation of histone H3. (PubMed id 12160743) 9 Shahbazian M....Zoghbi H. (2002) Protein interactions targeting the latency-associated nuclear antigen of Kaposi's sarcoma-associated herpesvirus to cell chromosomes. (PubMed id 12388720) 9 Krithivas A....Hayward S.D. (2002) Deletion screening by fluorescence in situ hybridizat ion in Rett syndrome patients. (PubMed id 11755104) 9 Bourdon V....Jonveaux P. (2001) R133C and R168X mutations in Japanese Rett syndrome p atients: a caution for misdiagnosis. (PubMed id 11738863) 9 Amano K....Yamakawa K. (2001) The role of different X-inactivation pattern on the v ariable clinical phenotype with Rett syndrome. (PubMed id 11738865) 9 Ishii T....Oki J. (2001) Preserved speech variants of the Rett syndrome: molec ular and clinical analysis. (PubMed id 11746022) 9 Zappella M....Renieri A. (2001) Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA. (PubMed id 11371345) 9 Ohki I....Shirakawa M. (2001) Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed. (PubMed id 11571704) 9 Xiang F....Hagberg B. (2001) Spectrum of MECP2 mutations in Rett syndrome. (PubMed id 11738860) 9 Lee S.S....Francke U. (2001) Methyl-CpG-binding protein 2 mutations in Rett syndro me. (PubMed id 10826991) 9 Van den Veyver I.B. and Zoghbi H.Y. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings. (PubMed id 11071498) 9 Villard L....Fontes M. (2000) Active repression of methylated genes by the chromosomal protein MBD1. (PubMed id 10648624) 9 Ng H.-H.... Bird A. (2000) Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome. (PubMed id 10737989) 9 Kim S.J. and Cook E.H. (2000) Epilepsy and mental retardation limited to females wi th PCDH19 mutations can present de novo or in single generation families. (PubMed id 19752159) 9 Hynes K....Scheffer I.E. (2010) Cyclin-dependent kinase-like 5 (CDKL5) mutation scree ning in Rett syndrome and related disorders. (PubMed id 20397747) 9 White R....Christodoulou J. (2010) Chromatin modifiers, cognitive disorders, and imprint ed genes. (PubMed id 20159587) 9 Cunningham M.D....Pfeifer K. (2010) Role of DNA methylation and methyl-DNA binding protei ns in the repression of 5-lipoxygenase promoter activity. (PubMed id 19781662) 9 Katryniok C....Steinhilber D. (2010) Four unrelated patients with Lubs X-linked mental ret ardation syndrome and different Xq28 duplications. (PubMed id 20082459) 9 Bartsch O....Haaf T. (2010) Epilepsy and the natural history of Rett syndrome. (PubMed id 20231667) 9 Glaze D.G....Lee H.S. (2010) The 2q23.1 microdeletion syndrome: clinical and behav ioural phenotype. (PubMed id 19809484) 9 van Bon B.W....de Vries B.B. (2010) CpG methylation attenuates Sp1 and Sp3 binding to the human extracellular superoxide dismutase promoter and regulates its cell-speci fic expression. (PubMed id 20079429) 9 Zelko I.N....Folz R.J. (2010) Effects of sedation on auditory brainstem response in Rett syndrome. (PubMed id 20399386) 9 Pillion J.P....Naidu S. (2010) Abnormalities of cell packing density and dendritic c omplexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retar dation. (PubMed id 20163734) 9 Jentarra G.M....Narayanan V. (2010) Acquired microcephaly, regression of milestones, mito chondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MEC P2 gene mutation. (PubMed id 20142466) 9 Condie J....Wainwright M.S. (2010) Promoter demethylation and chromatin remodeling by gr een tea polyphenols leads to re-expression of GSTP1 in human prostate cancer ce lls. (PubMed id 19856314) 9 Pandey M....Gupta S. (2010) Expression analysis and mutation detection of DLX5 an d DLX6 in autism. (PubMed id 19195802) 9 Nakashima N....Momoi M.Y. (2010) A novel p.Arg970X mutation in the last exon of the CD KL5 gene resulting in late-onset seizure disorder. (PubMed id 19428276) 9 Psoni S....Kitsiou-Tzeli S. (2010) Biogenic amines in Rett syndrome: the usual suspects. (PubMed id 19851857) 9 Roux J.C. and Villard L. (2010) Regulation of heterochromatin remodelling and myogeni n expression during muscle differentiation by FAK interaction with MBD2. (PubMed id 19661918) 9 Luo S.W....Xiong W.C. (2009) Selective anchoring of DNA methyltransferases 3A and 3B to nucleosomes containing methylated DNA. (PubMed id 19620278) 9 Jeong S....Jones P.A. (2009) The reelin and GAD67 promoters are activated by epigenetic drugs that facilitate the disruption of local repressor complexes. (PubMed id 19029285) 9 Kundakovic M....Grayson D.R. (2009) [X-linked alpha-thalassemia/mental retardation syndro me] (PubMed id 19489441) 9 Wada T. (2009) Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. (PubMed id 18854860) 9 Clayton-Smith J....Donnai D. (2009) Temozolomide and carmustine cause large-scale heterochromatin reorganization in glioma cells. (PubMed id 19116135) 9 Papait R....Cattaneo E. (2009) Could autism with mental retardation result from dige nism and frequent de novo mutations? (PubMed id 19160128) 9 Moraine C....Gomot M. (2009) Neuronal differentiation of neural precursor cells is promoted by the methyl-CpG-binding protein MeCP2. (PubMed id 19427855) 9 Tsujimura K....Nakashima K. (2009) CDKL5 influences RNA splicing activity by its associa tion to the nuclear speckle molecular machinery. (PubMed id 19740913) 9 Ricciardi S....Broccoli V. (2009) Specific association between the methyl-CpG-binding domain protein 2 and the hypermethylated region of the human telomerase reverse transcriptase promoter in cancer cells. (PubMed id 18952593) 9 Chatagnon A....Dante R. (2009) Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome. (PubMed id 18786650) 9 Matarazzo M.R....D'Esposito M. (2009) A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male. (PubMed id 18678449) 9 Campos M....Pimentel M.M. (2009) Enhanced dense core granule function and adrenal hype rsecretion in a mouse model of Rett syndrome. (PubMed id 19674087) 9 Ladas T....Katz D.M. (2009) A tumor-protective role for human kallikrein-related peptidase 6 in breast cancer mediated by inhibition of epithelial-to-mesenchymal transition. (PubMed id 19383923) 9 Pampalakis G....Sotiropoulou G. (2009) [Systemic control of the molecular, cell, and epigenetic mechanisms of long-lasting consequences of stress] (PubMed id 19382685) 9 BaA-do A.I....Savenko I.u.N. (2009) Neurochemical changes in a mouse model of Rett syndrome: changes over time and in response to perinatal choline nutritional supplementation. (PubMed id 19012748) 9 Ward B.C....Berger-Sweeney J.E. (2009) Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. (PubMed id 19208815) 9 Tropea D....Sur M. (2009) Regulation of oestrogen receptor gene expression: new insights and novel mechanisms. (PubMed id 19207817) 9 Wilson M.E. and Westberry J.M. (2009) Epigenetic regulation of Foxp3 expression in regulatory T cells by DNA methylation. (PubMed id 19109157) 9 Lal G....Bromberg J.S. (2009) DNA methylation and methyl-CpG binding proteins: deve lopmental requirements and function. (PubMed id 19506892) 9 BogdanoviA8 O. and Veenstra G.J. (2009) A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. (PubMed id 19253388) 9 Sprovieri T.... Quattrone A. (2009) Neurotrophic effects of Cerebrolysin in the Mecp2(308/Y) transgenic model of Rett syndrome. (PubMed id 18600331) 9 Doppler E....Masliah E. (2008) Epigenetic silencing of O6-methylguanine DNA methyltransferase gene in NiS-transformed cells. (PubMed id 18204074) 9 Ji W....Zhuang Z. (2008) The EBNA1 protein of Epstein-Barr virus functionally interacts with Brd4. (PubMed id 18922874) 9 Lin A....Frappier L. (2008) MeCP2 binding to DNA depends upon hydration at methyl-CpG. (PubMed id 18313390) 9 Ho K.L....Walkinshaw M.D. (2008) Homocysteine-induced extracellular superoxide dismutase and its epigenetic mechanisms in monocytes. (PubMed id 18310117) 9 Jiang Y....Wang S. (2008) Abnormal DNA methylation in T cells from patients with subacute cutaneous lupus erythematosus. (PubMed id 18644019) 9 Luo Y....Lu Q. (2008) The methyl-CpG-binding protein MeCP2 and neurological disease. (PubMed id 18631120) 9 Bird A. (2008) Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. (PubMed id 18165974) 9 Smyk M....Bocian E. (2008) Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome. (PubMed id 18032561) 9 Medrihan L....Zhang W. (2008) Analysis of X chromosome inactivation in autism spectrum disorders. (PubMed id 18361425) 9 Gong X....Bourgeron T. (2008) [Autism, epilepsy and genetics] (PubMed id 18302128) 9 Munoz-Yunta J.A....Manchado F. (2008) Epigenetic silencers are enriched in dormant desert frog muscle. (PubMed id 18369641) 9 Hudson N.J....Lehnert S.A. (2008) Clinically relevant concentrations of valproic acid modulate melatonin MT(1) receptor, HDAC and MeCP2 mRNA expression in C6 glioma cells. (PubMed id 18550052) 9 Kim B....Niles L.P. (2008) Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. (PubMed id 19096215) 9 Xu S....Fan Y.S. (2008) In vivo genome-wide expression study on human circulating B cells suggests a novel ESR1 and MAPK3 network for postmenopausal osteoporosis. (PubMed id 18433299) 9 Xiao P....Deng H.W. (2008) Complications in the assignment of 14 and 28 Da mass shift detected by mass spectrometry as in vivo methylation from endogenous proteins. (PubMed id 18247584) 9 Jung S.Y....Qin J. (2008) Activity-dependent suppression of miniature neurotransmission through the regulation of DNA methylation. (PubMed id 18184782) 9 Nelson E.D....Monteggia L.M. (2008) Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. (PubMed id 17439480) 9 Roux J.C....Villard L. (2007) Epigenetics and Neural developmental disorders: Washington DC, September 18 and 19, 2006. (PubMed id 17965627) 9 Zhao X....Jin P. (2007) MicroRNA in schizophrenia: genetic and expression analysis of miR-130b (22q11). (PubMed id 17573714) 9 Burmistrova O.A....Rogaev E.I. (2007) Semax, an analogue of adrenocorticotropin (4-10), is a potential agent for the treatment of attention-deficit hyperactivity disorder and Rett syndrome. (PubMed id 16996699) 9 Tsai S.J. (2007) Aberrant epigenetic modifications in hepatocarcinogenesis induced by hepatitis B virus X protein. (PubMed id 17408664) 9 Park I.Y....Lee Y.I. (2007) Mechanisms of disease: methyl-binding domain proteins as potential therapeutic targets in cancer. (PubMed id 17464338) 9 Sansom O.J....Clarke A.R. (2007) Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. (PubMed id 17546640) 9 Froyen G....Marynen P. (2007) Herpesvirus saimiri episomal persistence is maintained via interaction between open reading frame 73 and the cellular chromosome-associated protein MeCP2. (PubMed id 17267510) 9 Griffiths R. and Whitehouse A. (2007) MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein? (PubMed id 17317146) 9 Chadwick L.H. and Wade P.A. (2007) How and when environmental agents and dietary factors affect the course of Alzheimer's disease: the 'LEARn' model (latent early-life associated regulation) may explain the triggering of AD. (PubMed id 17430250) 9 Lahiri D.K....Zawia N.H. (2007) Alteration of DNA methyltransferases contributes to 5'CpG methylation and poor prognosis in lung cancer. (PubMed id 17140695) 9 Lin R.K....Wang Y.C. (2007) Folate receptor autoantibodies and spinal fluid 5-met hyltetrahydrofolate deficiency in Rett syndrome. (PubMed id 18058624) 9 Ramaekers V.T....Quadros E.V. (2007) Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome. (PubMed id 17363207) 9 Itaba-Matsumoto N....Nanba E. (2007) Multiple binding of methyl-CpG and polycomb proteins in long-term gene silencing events. (PubMed id 17133344) 9 Matarazzo M.R....D'Esposito M. (2007) Molecular epigenetics of Angelman syndrome. (PubMed id 17347796) 9 Lalande M. and Calciano M.A. (2007) Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. (PubMed id 17276711) 9 Voutoufianakis S....Fryssira H. (2007) Assistive technology and supplementary treatment for individuals with Rett syndrome. (PubMed id 17619776) 9 Lotan M. (2007) Homocysteine inhibits endothelial cell growth via DNA hypomethylation of the cyclin A gene. (PubMed id 17698632) 9 Jamaluddin M.D....Wang H. (2007) Mbd2 contributes to DNA methylation-directed repression of the Xist gene. (PubMed id 17353271) 9 Barr H....Bird A. (2007) Lithium and antidepressants: potential agents for the treatment of Rett syndrome. (PubMed id 16584849) 9 Tsai S.J. (2006) [Rett syndrome: a diagnostic, clinical and molecular update] (PubMed id 16506134) 9 Tejada M.I. (2006) Rationale for the use of histone deacetylase inhibitors as a dual therapeutic modality in multiple sclerosis. (PubMed id 17998807) 9 Gray S.G. and Dangond F. (2006) A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis. (PubMed id 16763963) 9 Donzel-Javouhey A....Faivre L. (2006) Aberrant promoter methylation of the ABCG2 gene in renal carcinoma. (PubMed id 16954373) 9 To K.K....Bates S.E. (2006) CpG island promoter methylation and silencing of 14-3-3sigma gene expression in LNCaP and Tramp-C1 prostate cancer cell lines is associated with methyl-CpG-binding protein MBD2. (PubMed id 16786000) 9 Pulukuri S.M. and Rao J.S. (2006) Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. (PubMed id 16813600) 9 Nectoux J....Bienvenu T. (2006) Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. (PubMed id 15875198) 9 Giampietro P.F....Roa B.B. (2006) Rett syndrome. A review with emphasis on clinical characteristics and intervention. (PubMed id 17160339) 9 Lotan M. and Ben-Zeev B. (2006) The genetics of mental retardation. (PubMed id 16987873) 9 Raymond F.L. and Tarpey P. (2006) A new paradigm for West syndrome based on molecular and cell biology. (PubMed id 16806828) 9 Kato M. (2006) Multiplex protocol suitable for screening for MECP2 mutations in girls with mental retardation. (PubMed id 16510438) 9 Carvalho C.M....Pena S.D. (2006) Engineering a high-affinity methyl-CpG-binding protein. (PubMed id 16893950) 9 Jorgensen H.F....Bird A.P. (2006) hMLH1 promoter methylation and silencing in primary endometrial cancers are associated with specific alterations in MBDs occupancy and histone modifications. (PubMed id 16701802) 9 Xiong Y....Jiang S.W. (2006) Forensic issues and possible mechanisms of sudden death in Rett syndrome. (PubMed id 16263320) 9 Byard R.W. (2006) Very mild cases of Rett syndrome with skewed X inactivation. (PubMed id 16690727) 9 Huppke P....GAortner J. (2006) Epigenetic regulation of metallothionein-i gene expression: differential regulation of methylated and unmethylated promoters by DNA methyltransferases and methyl CpG binding proteins. (PubMed id 16329111) 9 Majumder S....Ghoshal K. (2006) The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. (PubMed id 16418599) 9 Abdul-Rahman O.A. and Hudgins L. (2006) The ups and downs of BDNF in Rett syndrome. (PubMed id 16446133) 9 Sun Y.E. and Wu H. (2006) [Non-specific X-linked mental retardation] (PubMed id 16506138) 9 Martinez-Castellano F. (2006) Methylation mediated silencing of TMS1/ASC gene in prostate cancer. (PubMed id 16848908) 9 Das P.M....Singal R. (2006) Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. (PubMed id 16935860) 9 Bertani I.... Kilstrup-Nielsen C. (2006) X linked mental retardation: a clinical guide. (PubMed id 16118346) 9 Raymond F.L. (2006) SPAN-XB core promoter sequence is regulated in myeloma cells by specific CpG dinucleotides associated with the MeCP2 protein. (PubMed id 17036333) 9 Wang Z....Lim S.H. (2006) Epigenetic regulation of O6-methylguanine-DNA methyltransferase gene expression by histone acetylation and methyl-CpG binding proteins. (PubMed id 15657354) 9 Danam R.P....Harris L.C. (2005) Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. (PubMed id 16354910) 9 Viemari J.C....Hilaire G. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. (PubMed id 16015284) 9 Evans J.C.... Clarke A.J. (2005) Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation. (PubMed id 15939760) 9 Brero A....Cardoso M.C. (2005) Another patient with MECP2 mutation without classic Rett syndrome phenotype. (PubMed id 15866439) 9 Milani D....Riva D. (2005) Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in Rett syndrome: potential implications for clinical autonomic dysfunction. (PubMed id 16254496) 9 Paterson D.S....Kinney H.C. (2005) Specific genetic disorders and autism: clinical contribution towards their identification. (PubMed id 15796126) 9 Cohen D....HAcron D. (2005) 5-halogenated pyrimidine lesions within a CpG sequence context mimic 5-methylcytosine by enhancing the binding of the methyl-CpG-binding domain of methyl-CpG-binding protein 2 (MeCP2). (PubMed id 15917437) 9 Valinluck V....Sowers L.C. (2005) Multiple mechanisms induce transcriptional silencing of a subset of genes, including oestrogen receptor alpha, in response to deacetylase inhibition by valproic acid and trichostatin A. (PubMed id 15870696) 9 Reid G....Gannon F. (2005) Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. (PubMed id 16086395) 9 Huppke P....Gartner J. (2005) CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. (PubMed id 15689447) 9 Scala E....Renieri A. (2005) Structural basis for APPTPPPLPP peptide recognition by the FBP11WW1 domain. (PubMed id 15811376) 9 Pires J.R....Oschkinat H. (2005) A transcriptional repressor MeCP2 causing Rett syndrome is expressed in embryonic non-neuronal cells and controls their growth. (PubMed id 15939091) 9 Nagai K....Kubota T. (2005) Mutation analysis of methyl-CpG binding protein family genes in autistic patients. (PubMed id 15967618) 9 Li H....Momoi M.Y. (2005) Rett syndrome: model of neurodevelopmental disorders. (PubMed id 16225824) 9 Percy A.K. and Lane J.B. (2005) The transcriptional repressor Mecp2 regulates terminal neuronal differentiation. (PubMed id 15345242) 9 Matarazzo V....Ronnett G.V. (2004) Transcriptional gene silencing promotes DNA hypermethylation through a sequential change in chromatin modifications in cancer cells. (PubMed id 15172996) 9 Stirzaker C....Clark S.J. (2004) The genetics of autism. (PubMed id 15121991) 9 Muhle R....Rapin I. (2004) Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins. (PubMed id 15377381) 9 Gartler S.M....Hansen R.S. (2004) Dynamic regulation of DNA methylation coupled transcriptional repression: BDNF regulation by MeCP2. (PubMed id 14988922) 9 Wade P.A. (2004) MDR1 promoter hypermethylation in MCF-7 human breast cancer cells: changes in chromatin structure induced by treatment with 5-Aza-cytidine. (PubMed id 15034303) 9 David G.L....Nelson W.G. (2004) Expression of mRNAs for DNA methyltransferases and methyl-CpG-binding proteins in the human female germ line, preimplantation embryos, and embryonic stem cells. (PubMed id 14735494) 9 Huntriss J....Picton H.M. (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. (PubMed id 15499549) 9 Tao J.... Kalscheuer V.M. (2004) Mechanisms underlying lack of insulin-like growth factor-binding protein-3 expression in non-small-cell lung cancer. (PubMed id 15247904) 9 Chang Y.S....Lee H.Y. (2004) Increase in DNA methylation downregulates conceptus interferon-tau gene expression. (PubMed id 14991730) 9 Nojima H....Imakawa K. (2004) Trisomy 21 and Rett syndrome: a double burden. (PubMed id 15228575) 9 Leonard H....Christodoulou J. (2004) Role of human ribosomal RNA (rRNA) promoter methylation and of methyl-CpG-binding protein MBD2 in the suppression of rRNA gene expression. (PubMed id 14610093) 9 Ghoshal K.... Jacob S.T. (2004) Rett syndrome: a prototypical neurodevelopmental disorder. (PubMed id 15070486) 9 Neul J.L. and Zoghbi H.Y. (2004) Kaiso is a genome-wide repressor of transcription that is essential for amphibian development. (PubMed id 15548582) 9 Ruzov A.... Meehan R.R. (2004) Expression analysis of the epigenetic methyltransferases and methyl-CpG binding protein families in the normal B-cell and B-cell chronic lymphocytic leukemia (CLL). (PubMed id 15467427) 9 Kn H....El-Osta A. (2004) Comparative study of methyl-CpG-binding domain proteins. (PubMed id 12529184) 9 Roloff T.C.... Nuber U.A. (2003) DNA methylation and Rett syndrome. (PubMed id 12928486) 9 Kriaucionis S. and Bird A. (2003) [Clinical phenotypes of classic Rett syndrome] (PubMed id 12599117) 9 Nieto-Barrera M....Siljestrom M.L. (2003) Silencing effect of CpG island hypermethylation and histone modifications on O6-methylguanine-DNA methyltransferase (MGMT) gene expression in human cancer. (PubMed id 14647440) 9 Nakagawachi T....Mukai T. (2003) Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation. (PubMed id 12624134) 9 Cox J.J....Raymond F.L. (2003) Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns. (PubMed id 14519686) 9 Craig J.M....Choo K.H. (2003) Reduced folate transport to the CNS in female Rett patients. (PubMed id 12939425) 9 Ramaekers V.T....Blau N. (2003) [Monogenic causes of nonspecific X-linked mental retardation molecular aspects] (PubMed id 12810981) 9 Nawara M....Mazurczak T. (2002) MECP2 mutation in a boy with language disorder and schizophrenia. (PubMed id 11772708) 9 Cohen D....HAcron D. (2002) CpG-binding protein is a nuclear matrix- and euchromatin-associated protein localized to nuclear speckles containing human trithorax. Identification of nuclear matrix targeting signals. (PubMed id 12200428) 9 Lee J.-H. and Skalnik D.G. (2002) Precipitous release of methyl-CpG binding protein 2 and histone deacetylase 1 from the methylated human multidrug resistance gene (MDR1) on activation. (PubMed id 11865062) 9 El-Osta A....Wolffe A.P. (2002) Rett syndrome. Current status and new vistas. (PubMed id 12616684) 9 Percy A.K. (2002) MBD3L1 and MBD3L2, two new proteins homologous to the methyl-CpG- binding proteins MBD2 and MBD3: characterization of MBD3L1 as a testis-specific transcriptional repressor. (PubMed id 12504854) 9 Jiang C.-L.... Pfeifer G.P. (2002) [Rett's syndrome. Clinical features and advances in genetics] (PubMed id 12447790) 9 Temudo T. and Maciel P. (2002) Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. (PubMed id 12027529) 9 Ijichi S. and Ijichi N. (2002) Methylation-dependent silencing at the H19 imprinting control region by MeCP2. (PubMed id 11861904) 9 Drewell R.A....Surani M.A. (2002) Rett syndrome: clinical correlates of the newly discovered gene. (PubMed id 11738873) 9 Percy A.K. (2001) No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. (PubMed id 11464249) 9 Vourc'h P....Andres C. (2001) Methyl-CpG-binding proteins. Targeting specific gene repression. (PubMed id 11121095) 9 Ballestar E. and Wolffe A.P. (2001) Rethinking the fate of males with mutations in the gene that causes Rett syndrome. (PubMed id 11738861) 9 Schanen C. (2001) A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. (PubMed id 11446411) 9 Ellaway C.J....Leonard H. (2001) Methyl CpG binding proteins: coupling chromatin architecture to gene regulation. (PubMed id 11420733) 9 Wade P.A. (2001) Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. (PubMed id 11521215) 9 Schwartzman J.S....Zatz M. (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. (PubMed id 11242118) 9 Chen R.Z....Jaenisch R. (2001) MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. (PubMed id 11331619) 9 Wan M....Francke U. (2001) Clinical, neurophysiological and immunological correlations in classical Rett syndrome. (PubMed id 11738854) 9 Gratchev V.V....Vorsanova S.G. (2001) Altered chromatin structure associated with methylation-induced gene silencing in cancer cells: correlation of accessibility, methylation, MeCP2 binding and acetylation. (PubMed id 11713309) 9 Nguyen C.T....Jones P.A. (2001) Expression of mRNA for DNA methyltransferases and methyl-CpG-binding proteins and DNA methylation status on CpG islands and pericentromeric satellite regions during human hepatocarcinogenesis. (PubMed id 11230735) 9 Saito Y....Hirohashi S. (2001) Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. (PubMed id 11592853) 9 Colantuoni C....Pevsner J. (2001) Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. (PubMed id 11738866) 9 Kudo S....Tamura M. (2001) Rett syndrome neuropathology review 2000. (PubMed id 11738845) 9 Armstrong D.D. (2001) Regulation of transcription and chromatin by methyl-CpG binding protein MBD1. (PubMed id 11738867) 9 Nakao M....Fujita N. (2001) DNA methylation and histone deacetylation in the control of gene expression: basic biochemistry to human development and disease. (PubMed id 11097425) 9 El-Osta A. and Wolffe A.P. (2000)
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Genome Databases showing MECP2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing MECP2 gene
(According to HUGE )
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Specialized Databases showing MECP2 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for MECP2 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for MECP2 Genetics and Cytogenetics in Oncology and Haematology RettBASE http://mecp2.chw.edu.au/mecp2/ GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MECP2
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About This Section Patent Information for MECP2 gene: Search GeneIP for patents involving MECP2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor MECP2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
OriGene Antibodies for MECP2 OriGene shRNA RFP for MECP2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for MECP2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MECP2 OriGene Protein Over-expression Lysate for MECP2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for MECP2 OriGene 3'-UTR Clone for MECP2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MECP2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MECP2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for MECP2 OriGene Custom Protein Services for MECP2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MECP2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MECP2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MECP2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat MECP2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MECP2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MECP2
Antibodies & Assays for MECP2  
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Recombinant Protein for MECP2
MECP2 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECP2
ThermoFisher Antibody for MECP2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MECP2
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