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MECP2 Gene

protein-coding   GIFtS: 68
GCID: GC0XM153287

Methyl CpG Binding Protein 2 (Rett Syndrome)

(Previous names: mental retardation, X-linked 16, mental retardation, X-linked...)
(Previous symbols: RTT, MRX16, MRX79)
  See MECP2-related diseases

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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: 69901   Entrez Gene: 42042   Ensembl: ENSG000001690577   OMIM: 3000055   UniProtKB: P516083   

Export aliases for MECP2 gene to outside databases

Previous GC identifiers: GC0XM147424 GC0XM149742 GC0XM150872 GC0XM151755 GC0XM152808 GC0XM152940 GC0XM141928

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MECP2 Gene:
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)

GeneCards Summary for MECP2 Gene:
MECP2 (methyl CpG binding protein 2 (Rett syndrome)) is a protein-coding gene. Diseases associated with MECP2 include mecp2-related disorders, and lubs x-linked mental retardation syndrome. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MBD4.

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 is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through
interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and
5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC) (By similarity)

Gene Wiki entry for 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011681.17  NC_018934.2  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmids (see all 2): MECP2 promoter sequence
   Search Chromatin IP Primers for MECP2

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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)
MECP2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM153287:  view genomic region     (about GC identifiers)

153,287,024 bp from pter      End:
153,363,212 bp from pter
76,189 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or GeneTex.)
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
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 Q7Z384
Alternative 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

Explore proteomics data for MECP2 at MOPED

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
  • Ubiquitination2 at Lys130
  • Modification sites at PhosphoSitePlus

  • See MECP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001104262.1  NP_004983.1  

    ENSEMBL proteins: 
     ENSP00000301948   ENSP00000395535   ENSP00000384865   ENSP00000358973   ENSP00000416267  

    MECP2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MECP2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MECP2
    GenScript Custom Purified and Recombinant Proteins Services for MECP2
    Novus Biologicals MECP2 Proteins
    Novus Biologicals MECP2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for MECP2
    Cloud-Clone Corp. Proteins for MECP2

    Search eBioscience for Proteins for MECP2 

    antibodies-online proteins for MECP2 (11 products) 

    antibodies-online peptides for MECP2

    Search GeneTex for Proteins for MECP2 

    MECP2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MECP2
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for MECP2 
    OriGene Antibodies for MECP2
    OriGene Custom Antibody Services for MECP2
    Novus Biologicals MECP2 Antibodies
    Abcam antibodies for MECP2
    Cloud-Clone Corp. Antibodies for MECP2
    ThermoFisher Antibody for MECP2
    antibodies-online antibodies for MECP2 (118 products) 

    GeneTex Antibodies for MECP2:  
                        MECP2 Antibodies

    MECP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MECP2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MECP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MECP2
    Cloud-Clone Corp. CLIAs for MECP2
    Search eBioscience for ELISAs for MECP2 
    antibodies-online kits for MECP2 (9 products) 

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    4 InterPro protein domains:
     IPR017956 AT_hook_DNA-bd_motif
     IPR001739 Methyl_CpG_DNA-bd
     IPR017353 Me_CpG-bd_MeCP2
     IPR016177 DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry P51608

    ProtoNet protein and cluster: P51608

    1 Blocks protein domain: IPB001739 Methyl-CpG binding

    UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
    Similarity: Contains 2 A.T hook DNA-binding domains
    Similarity: Contains 1 MBD (methyl-CpG-binding) domain

    Find genes that share domains with MECP2           About GenesLikeMe

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, CRISPR knockouts from OriGene, transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Clones from OriGene, GenScript, Sino Biological, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    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 is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through
    interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and
    5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC) (By similarity)

         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): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9620804
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003714transcription corepressor activity TAS10773092
    GO:0003729mRNA binding IEA--
    Find genes that share ontologies with MECP2           About GenesLikeMe

         Selected MGI mutant phenotypes (inferred from 24 alleles(MGI details for Mecp2) (see all 20):
     adipose tissue  behavior/neurological  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with MECP2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MECP2: Mecp2tm1Pplt Mecp2tm1.1Jae Mecp2tm1Jchr Mecp2tm1Hzo Mecp2tm1.1Bird

       genOway: Develop your customized and physiologically relevant rodent model for MECP2

        Taconic Biosicences: Generate A Custom CRISPR Mouse Model For Your Study 

    CRISPR Knockouts: 
       OriGene CRISPR knockouts for MECP2

    miRTarBase miRNAs that target MECP2:
    hsa-mir-155-5p (MIRT000442), hsa-mir-148b-3p (MIRT019389), hsa-mir-212-3p (MIRT003897), hsa-mir-124-3p (MIRT007282), hsa-mir-122-5p (MIRT003089), hsa-mir-19a-3p (MIRT001795), hsa-mir-199a-3p (MIRT000779), hsa-mir-92a-3p (MIRT049717), hsa-mir-425-3p (MIRT042431), hsa-mir-195-5p (MIRT000795), hsa-mir-802 (MIRT000441), hsa-mir-199a-5p (MIRT004395), hsa-mir-331-3p (MIRT043437)

    Block miRNA regulation of human, mouse, rat MECP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MECP2 (see all 100):
    hsa-miR-194* hsa-miR-548j hsa-miR-520f hsa-miR-361-5p hsa-miR-3607-3p hsa-miR-199a-3p hsa-miR-106a hsa-miR-218-1*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    OriGene RNAi products in human, mouse, rat for MECP2
    Predesigned siRNA for gene silencing in human, mouse, rat MECP2

    OriGene clones in human, mouse for MECP2 (see all 12)
    OriGene ORF clones in mouse, rat for MECP2
    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)
    Sino Biological Human cDNA Clone for MECP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MECP2
    Addgene plasmids for MECP2 

    Cell Line
    GenScript Custom overexpressing Cell Line Services for MECP2
    Browse ESI BIO Cell Lines and PureStem Progenitors for MECP2 
    In Situ Assay

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECP2

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    Subcellular locations from UniProtKB/Swiss-Prot
    MECP2_HUMAN, P51608: Nucleus. Note=Colocalized with methyl-CpG in the genome
    Subcellular locations from COMPARTMENTS: 


    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000792heterochromatin IDA11441023
    GO:0005615extracellular space IDA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--

    Find genes that share ontologies with MECP2           About GenesLikeMe

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    SuperPaths for MECP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Macrophage Differentiation and Growth Inhibition by METS
    DNA Methylation and Transcriptional Repression0.30
    2SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Find genes that share SuperPaths with MECP2           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for MECP2
        DNA Methylation and Transcriptional Repression

    2 Cell Signaling Technology (CST) Pathways for MECP2
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for MECP2
        SIDS Susceptibility Pathways

        Pathway & Disease-focused RT2 Profiler PCR Array including MECP2: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat


        GeneGlobe Interaction Network for MECP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MECP2 (P516081, 2, 3 ENSP000003955354) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIPK2Q9H2X61, 2, 3EBI-1189067,EBI-348345 MINT-7308929 MINT-7308914 I2D: score=1 
    SMARCA2P515311, 3, ENSP000002657734EBI-1189067,EBI-679562 I2D: score=5 STRING: ENSP00000265773
    HIST2H3AQ71DI33, ENSP000003854794I2D: score=1 STRING: ENSP00000385479
    HIST2H3CQ71DI33I2D: score=1 
    HIST2H3DQ71DI33I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 56):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS9620804
    GO:0001662behavioral fear response IEA--
    GO:0001666response to hypoxia IEA--
    GO:0001964startle response IEA--
    GO:0001976neurological system process involved in regulation of systemic arterial blood pressure IEA--

    Find genes that share ontologies with MECP2           About GenesLikeMe

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MECP2

    Selected Novoseek inferred chemical compound relationships for MECP2 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 64.5 2 15247904 (1), 16848908 (1)
    cytosine 53.2 3 10390525 (1), 10319871 (1), 18313390 (1)
    5-methylcytosine 41.6 6 11331619 (1), 15917437 (1), 17309881 (1)
    hpaii 17.5 2 11691937 (2)
    azathioprine 13.9 1 17036333 (1)
    valproate 6.55 1 15870696 (1)
    gaba 6.37 5 17363207 (1), 18302128 (1)
    folate 3.82 5 18058624 (1), 12939425 (1)
    oligonucleotide 0 2 19324899 (1), 15689352 (1)
    guanosine 0 3 11453972 (1)

    Find genes that share compounds with MECP2           About GenesLikeMe

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    REFSEQ mRNAs for MECP2 gene (6 alternative transcripts): 
    NM_001110792.1  NM_004992.3  XM_005274681.2  XM_005274682.2  XM_005274683.2  XM_006724819.1  

    Unigene Cluster for MECP2:

    Methyl CpG binding protein 2 (Rett syndrome)
    Hs.200716  [show with all ESTs]
    Unigene Representative Sequence: GQ203295
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303391(uc004fjv.2 uc004fjw.2) ENST00000453960 ENST00000407218
    ENST00000486506 ENST00000369957 ENST00000496908 ENST00000481807 ENST00000463644
    ENST00000460227 ENST00000415944 ENST00000488293
    Block miRNA regulation of human, mouse, rat MECP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MECP2 (see all 100):
    hsa-miR-194* hsa-miR-548j hsa-miR-520f hsa-miR-361-5p hsa-miR-3607-3p hsa-miR-199a-3p hsa-miR-106a hsa-miR-218-1*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    OriGene RNAi products in human, mouse, rat for MECP2
    Predesigned siRNA for gene silencing in human, mouse, rat MECP2
    OriGene clones in human, mouse for MECP2 (see all 12)
    OriGene ORF clones in mouse, rat for MECP2
    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)
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MECP2
    Addgene plasmids for MECP2 
    OriGene qSTAR qPCR primer pairs in human, mouse for MECP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MECP2
      QuantiTect SYBR Green Assays in human, mouse, rat MECP2
      QuantiFast Probe-based Assays in human, mouse, rat MECP2

    Additional mRNA sequence: 

    AB209464.1 AF158180.1 AJ132917.1 AK289444.1 AY541280.1 BC011612.1 BX538060.1 DQ656049.2 
    GQ203293.1 GQ203294.1 GQ203295.1 GQ896382.1 GU479943.1 GU812285.1 GU812286.1 HM020402.1 
    HM156732.1 HM156733.1 HQ127345.1 HQ141377.1 HQ141378.1 L37298.1 X89430.1 X99686.1 

    13 DOTS entries:

    DT.92046808  DT.92434186  DT.453173  DT.100730813  DT.100798087  DT.92434188  DT.100798090  DT.100831459 
    DT.121294059  DT.75101285  DT.86846848  DT.91868594  DT.121294031 

    Selected AceView cDNA sequences (see all 269):

    BI821242 BM850695 BU621700 CA436384 BM696151 CK821012 AI955326 BQ681323 
    BU679576 AL157555 AI439398 R09924 CD516820 AA888593 BU678549 BX509998 
    BC011612 CB242738 AA351289 BM986904 BQ067965 BG741923 N26870 AA543089 

    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:        -     -     -               

    ECgene alternative splicing isoforms for MECP2

    (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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, 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 imageBioGPS <intensity>2/3
    MECP2 Expression
    About this image

    MECP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     Neural Tube (Nervous System)    fully expand to see all 3 entries
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells (family)
     Bone (Muscoskeletal System)
             Bone Marrow
    MECP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MECP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.200716

    UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
    Tissue specificity: Present in all adult somatic tissues tested

        Pathway & Disease-focused RT2 Profiler PCR Array including MECP2: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    OriGene qSTAR qPCR primer pairs in human, mouse for MECP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MECP2
    QuantiTect SYBR Green Assays in human, mouse, rat MECP2
    QuantiFast Probe-based Assays in human, mouse, rat MECP2
    In Situ
    Assay Products:

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl 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 Selected species (see all 12)    About this table
    Organism Taxonomic
    Gene Description Human
    (Mus musculus)
    Mammalia Mecp21 , 5 methyl CpG binding protein 21, 5 90.15(n)1
      X (37.63 cM)5
    172571  NM_010788.31  NP_034918.11 
    (Anolis carolinensis)
    Reptilia MECP26
    methyl CpG binding protein 2 (Rett syndrome)
    1 ↔ 1
    African clawed frog
    (Xenopus laevis)
    Amphibia MECP22 methyl-CpG-binding protein MeCP2 76.69(n)    AF106951.1 
    (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)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for MECP2 gene
    1 SIMAP similar gene for MECP2 using alignment to 17 protein entries:     MECP2_HUMAN (see all proteins):

    Find genes that share paralogs with MECP2           About GenesLikeMe

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and 4UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    Selected SNPs for MECP2 (see all 1574)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    Chr X posSequence#AA
    CRett syndrome (RTT)4 pathogenic1153164502(-) AGAAGC/TGCAAG 6 R C mis1 ese32Minor allele frequency- T:0.00NA 4
    CRett syndrome (RTT)4 pathogenic1153164945(-) CTTCAC/TGGTAA 6 T M mis1 ese32Minor allele frequency- T:0.00NA 4
    CRett syndrome (RTT)4 pathogenic1153164954(-) TGATTC/G/TTGACT 9 S C F mis10--------
    CMental retardation, X-linked, syndromic, 13 (MRXS13)4 pathogenic1153164999(-) GATTGC/TGTACT 6 A V mis1 ese30--------
    CRett syndrome (RTT)4 pathogenic1153165021(-) CCTTTC/G/TGCTCT 9 R G C mis12NA 4
    CRett syndrome (RTT)4 pathogenic1153165858(-) GGACAC/G/TGGAAG 9 R G W mis1 ese32NA 4
    CRett syndrome (RTT)4 pathogenic1153165876(-) CCACCC/GTGCCT 6 L V mis1 ese30--------
    Rett syndrome (RTT)4--see VAR_0182062 P A mis40--------
    Rett syndrome (RTT)4--see VAR_0235572 T A mis40--------
    Mental retardation, X-linked, syndromic, 13 (MRXS13)4--see VAR_0376652 P S mis40--------

    HapMap Linkage Disequilibrium report for MECP2 (153287024 - 153363212 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MECP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517994CNV Gain19592680
    nsv519042CNV Gain19592680
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): MECP2
    Locus Specific Mutation Databases (LSDB): MECP2

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing MECP2:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing MECP2

    (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, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 300005   
    OMIM disorders: 312750  300055  300673  300496  105830  300260  
    UniProtKB/Swiss-Prot: MECP2_HUMAN, P51608
  • Angelman syndrome (AS) [MIM:105830]: A neurodevelopmental disorder characterized by severe motor and
    intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia,
    seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression
    revealing the tongue. Note=The disease may be caused by mutations affecting the gene represented in this entry
  • Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptive 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Rett syndrome (RTT) [MIM:312750]: An X-linked dominant neurodevelopmental 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,
    mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and
    patients usually survive into adulthood. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Autism, X-linked 3 (AUTSX3) [MIM:300496]: A complex multifactorial, pervasive developmental disorder
    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. Most
    individuals with autism also manifest moderate mental retardation. Note=The disease may be caused by mutations
    affecting the gene represented in this entry
  • Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM:300673]: A neurodevelopmental
    disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly,
    seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal
    reflux, axial hypotonia, hyperreflexia and dyskinetic movements. Note=The disease is caused by mutations
    affecting the gene represented in this entry. 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
  • Mental retardation, X-linked, syndromic, Lubs type (MRXSL) [MIM:300260]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptive 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=The disease is caused by mutations affecting the
    gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for
    the mental retardation phenotype

  • Selected diseases for MECP2 (see all 29):    
    About MalaCards
    mecp2-related disorders    lubs x-linked mental retardation syndrome    ppm-x syndrome    encephalopathy, neonatal severe
    bruxism    mecp2 duplication syndrome    atypical rett syndrome    classic rett syndrome
    rett syndrome    autism susceptibility, x-linked 3    mecp2-related angelman-like syndrome    mental retardation, x-linked syndromic, lubs type
    rett syndrome, preserved speech variant    pervasive developmental disorder    angelman syndrome    asperger syndrome
    mental retardation    alpha-thalassemia/mental retardation syndrome    epileptic encephalopathy, early infantile, 2    learning disability

    6 inferred disease relationships from the University of Copenhagen DISEASES database for MECP2:
    Rett syndrome     Intellectual disability     Autistic disorder     Angelman syndrome
    Microcephaly     Gait apraxia

    Find genes that share disorders with MECP2           About GenesLikeMe

    Selected Novoseek inferred 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)

    GeneTests: MECP2
    GeneReviews: MECP2
    Genetic Association Database (GAD): MECP2
    Human Genome Epidemiology (HuGE) Navigator: MECP2 (78 documents)

    Export disorders for MECP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MECP2 gene, integrated from 10 sources (see all 698) (see top 10):
    (articles sorted by number of sources associating them with MECP2)

    1. 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. (Nat. Genet. 1999)
    2. Low frequency of MECP2 mutations in mentally retarded males. (PubMed id 12111644)1, 2, 4 Yntema H.G....van Bokhoven H. (Eur. J. Hum. Genet. 2002)
    3. 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. (Am. J. Hum. Genet. 2000)
    4. 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, 4, 9 Webb R....Sawalha A.H. (Arthritis Rheum. 2009)
    5. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. (PubMed id 19652677)1, 4, 9 Raizis A.M....George P.M. (N. Z. Med. J. 2009)
    6. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. (PubMed id 18842453)1, 4, 9 Buoni S....Hayek J. (Clin Neurophysiol 2008)
    7. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. (PubMed id 19552836)1, 4, 9 Li M.R....Wu X.R. (Zhonghua Yi Xue Za Zhi 2009)
    8. 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, 4, 9 Lugtenberg Brouwer A.P. (Eur. J. Hum. Genet. 2009)
    9. MECP2 mutation analysis in patients with mental retardation. (PubMed id 15578581)1, 4, 9 Ylisaukko-Oja T....JAorvelAo I. (Am. J. Med. Genet. A 2005)
    10. 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. (Neurosci. Lett. 2005)
    11. MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. (PubMed id 14529314)1, 4, 9 Bourdon V....Jonveaux P. (Mol. Diagn. 2003)
    12. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. (PubMed id 12966522)1, 2, 9 Hammer S.... Schanen N.C. (Am. J. Med. Genet. A 2003)
    13. MECP2 is highly mutated in X-linked mental retardation. (PubMed id 11309367)1, 2, 9 Couvert P.... Cherif B. (Hum. Mol. Genet. 2001)
    14. High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation. (PubMed id 19806472)1, 4, 9 Campos M....Pimentel M.M. (J. Mol. Neurosci. 2010)
    15. MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. (PubMed id 17427193)1, 4, 9 Coutinho A.M....Vicente A.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    16. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. (PubMed id 17089071)1, 4, 9 Li M.R....Wu X.R. (J. Hum. Genet. 2007)
    17. 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. (Am. J. Hum. Genet. 2005)
    18. 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. (Nucleic Acids Res. 2004)
    19. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. (PubMed id 12872250)1, 2, 9 Miltenberger-Miltenyi G. and Laccone F. (Hum. Mutat. 2003)
    20. MeCP2 mutations in children with and without the phenotype of Rett syndrome. (PubMed id 11402105)1, 2, 9 Hoffbuhr K.... Naidu S. (Neurology 2001)
    21. [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome]. (PubMed id 20376788)1, 4, 9 Zhang J.J....Wu X.R. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010)
    22. MECP2 mutations in Malaysian Rett syndrome patients. (PubMed id 19495527)1, 4, 9 Fong C.B....Ariffin R. (Singapore Med J 2009)
    23. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. (PubMed id 18434641)1, 4, 9 Nectoux J....Bienvenu T. (Neurology 2008)
    24. Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism. (PubMed id 19125863)1, 4, 9 Loat C.S....Craig I.W. (Genes Brain Behav. 2008)
    25. MeCP2 gene mutation analysis in autistic boys with developmental regression. (PubMed id 17413451)1, 4, 9 Xi C.Y....Ji Y.H. (Psychiatr. Genet. 2007)
    26. Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations. (PubMed id 17420401)1, 4, 9 Temudo T....Maciel P. (Neurology 2007)
    27. Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males. (PubMed id 17084570)1, 4, 9 Campos M....Pimentel M.M. (amp 2007)
    28. 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. (Eur. J. Hum. Genet. 2005)
    29. 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. (Hum. Mol. Genet. 2005)
    30. 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. (Pediatr. Neurol. 2003)
    31. Absence of MeCP2 mutations in patients from the South Carolina autism project. (PubMed id 12555243)1, 4, 9 Lobo-Menendez F....Michaelis R.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003)
    32. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. (PubMed id 10944854)1, 2, 9 Amano K.... Yamakawa K. (J. Hum. Genet. 2000)
    33. 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. (J. Med. Genet. 2006)
    34. [Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities]. (PubMed id 15675358)1, 4, 9 Miura K....Wakamatsu N. (No To Hattatsu 2005)
    35. 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. (Brain Dev. 2001)
    36. Linking MECP2 and pain sensitivity: the example of Rett syndrome. (PubMed id 20425824)1, 4, 9 Downs J....Leonard H. (Am. J. Med. Genet. A 2010)
    37. 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, 4, 9 Santos M....Maciel P. (Dis. Markers 2008)
    38. Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. (PubMed id 17387578)1, 4, 9 Zahorakova D....Martasek P. (J. Hum. Genet. 2007)
    39. Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. (PubMed id 16672765)1, 4, 9 Kim I.J....Kim C.M. (amp 2006)
    40. 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. (Nat. Genet. 2004)
    41. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. (PubMed id 15057977)1, 2, 9 Schanen C.... Percy A. (Am. J. Med. Genet. A 2004)
    42. 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004)
    43. A Rett syndrome MECP2 mutation that causes mental retardation in men. (PubMed id 11805248)1, 2, 9 Dotti M.T.... Federico A. (Neurology 2002)
    44. 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. (Am. J. Hum. Genet. 2002)
    45. Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. (PubMed id 11269512)1, 2, 9 Vacca M.... Hulten M. (J. Mol. Med. 2001)
    46. Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. (PubMed id 11376998)1, 2, 9 Inui K.... Okada S. (Brain Dev. 2001)
    47. Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. (PubMed id 19562714)1, 4, 9 Makrythanasis P....Antonarakis S.E. (Hum. Mutat. 2009)
    48. 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, 4, 9 Parmeggiani A....Sangiorgi S. (J. Child Neurol. 2009)
    49. Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. (PubMed id 19365833)1, 4, 9 Saunders C.J....Vincent J.B. (Am. J. Med. Genet. A 2009)
    50. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. (PubMed id 18174559)1, 4, 9 Wong V.C. and Li S.Y. (J. Child Neurol. 2007)
    51. Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. (PubMed id 17383248)1, 4, 9 Lesca G....Calender A. (Eur J Med Genet 2007)
    52. Sequence variants within exon 1 of MECP2 occur in females with mental retardation. (PubMed id 17171659)1, 4, 9 Harvey C.G....Vincent J.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    53. Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation. (PubMed id 16879196)1, 4, 9 Tejada M.I....MilA! M. (Clin. Genet. 2006)
    54. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. (PubMed id 14560307)1, 4, 9 Kleefstra T....Hamel B.C. (Eur. J. Hum. Genet. 2004)
    55. 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. (Hum. Mutat. 2002)
    56. 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. (Eur. J. Hum. Genet. 2002)
    57. Spectrum of MECP2 mutations in Rett syndrome. (PubMed id 12180070)1, 4, 9 Bienvenu T....Chelly J. (Genet. Test. 2002)
    58. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. (PubMed id 12384770)1, 2, 9 Beyer K.S....Poustka A. (Hum. Genet. 2002)
    59. 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. (Hum. Mutat. 2001)
    60. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. (PubMed id 11238684)1, 2, 9 Imessaoudene B.... Amiel J. (J. Med. Genet. 2001)
    61. 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. (J. Med. Genet. 2001)
    62. MECP2 mutation in male patients with non-specific X-linked mental retardation. (PubMed id 11007980)1, 2, 9 Orrico A.... Sorrentino V. (FEBS Lett. 2000)
    63. 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. (Am. J. Hum. Genet. 2000)
    64. Mutation screening in Rett syndrome patients. (PubMed id 10745042)1, 2, 9 Xiang F.... Anvret M. (J. Med. Genet. 2000)
    65. 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. (Mol. Cell. Biol. 1998)
    66. 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. (Mamm. Genome 1996)
    67. 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, 4 Webb R....Sawalha A.H. (Ann. Rheum. Dis. 2011)
    68. Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. (PubMed id 20661168)1, 4 Shapiro J.R....Naidu S. (Pediatr. Res. 2010)
    69. Epilepsy in Rett syndrome---the experience of a National Rett Center. (PubMed id 20491871)1, 4 Nissenkorn A....Ben Zeev B. (Epilepsia 2010)
    70. Profiling scoliosis in Rett syndrome. (PubMed id 20032810)1, 4 Percy A.K....Glaze D.G. (Pediatr. Res. 2010)
    71. Epilepsy in Rett syndrome: clinical and genetic features. (PubMed id 20728410)1, 4 Pintaudi M....Veneselli E. (amp 2010)
    72. Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. (PubMed id 20031356)1, 4 Monnerat L.S....Vargas F.R. (amp 2010)
    73. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    74. Level of purposeful hand function as a marker of clinical severity in Rett syndrome. (PubMed id 20345957)1, 4 Downs J....Leonard H. (Dev Med Child Neurol 2010)
    75. Rett syndrome and long-term disorder profile. (PubMed id 19133691)1, 4 Smeets E.E....Frijns J.P. (Am. J. Med. Genet. A 2009)
    76. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    77. Brain metabolism in Rett syndrome: age, clinical, and genotype correlations. (PubMed id 19194883)1, 4 HorskA! A....Naidu S. (Ann. Neurol. 2009)
    78. A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations. (PubMed id 19309269)1, 4 Baris I. and Battaloglu E. (Genet Test Mol Biomarkers 2009)
    79. Genotype-phenotype correlation in Brazillian Rett syndrome patients. (PubMed id 19722030)1, 4 Lima F.T....Pereira L.d.a. .V. (Arq Neuropsiquiatr 2009)
    80. A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations. (PubMed id 19717458)1, 4 Joyner A.H....Dale A.M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    81. [Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. (PubMed id 19573459)1, 4 Li M.R....Wu X.R. (Zhonghua Er Ke Za Zhi 2009)
    82. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1, 4 Guilmatre A....Campion D. (Arch. Gen. Psychiatry 2009)
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    219. Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. (PubMed id 23262346)1 Das D.K....Udani V. (Gene 2013)
    220. The impact of MeCP2 loss- or gain-of-function on synaptic plasticity. (PubMed id 22781840)1 Na E.S....Monteggia L.M. (Neuropsychopharmacology 2013)
    221. Epigenetic regulation by Z-DNA silencer function controls cancer-associated ADAM-12 expression in breast cancer: cross-talk between MeCP2 and NF1 transcription factor family. (PubMed id 23135915)1 Ray B.K....Ray A. (Cancer Res. 2013)
    222. Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese. (PubMed id 24043878)1 Wong E.H....Sham P.C. (Schizophr Bull 2013)
    223. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    224. Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome. (PubMed id 23400946)1 Das D.K....Maitra A. (J. Clin. Lab. Anal. 2013)
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    226. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PubMed id 24163370)1 Lu L....Zhang L. (J. Biol. Chem. 2013)
    227. A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient. (PubMed id 23866855)1 Sheikh T.I....Vincent J.B. (Orphanet J Rare Dis 2013)
    228. Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. (PubMed id 23431031)1 Han K....Zoghbi H.Y. (amp 2013)
    229. Association of MeCP2 (rs2075596, rs2239464) genetic polymorphisms with systemic lupus erythematosus: a meta-analysis. (PubMed id 23857988)1 Liu K....Hong Q. (Lupus 2013)
    230. Epigenetic silencing of the proapoptotic gene BIM in anaplastic large cell lymphoma through an MeCP2/SIN3a deacetylating complex. (PubMed id 23633923)1 Piazza R....Gambacorti-Passerini C. (Neoplasia 2013)
    231. Creb1-Mecp2-(m)CpG complex transactivates postnatal murine neuronal glucose transporter isoform 3 expression. (PubMed id 23493374)1 Chen Y....Devaskar S.U. (Endocrinology 2013)
    232. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. (PubMed id 23770565)1 Lyst M.J....Bird A. (Nat. Neurosci. 2013)
    233. Association of an activity-enhancing variant of IRAK1 and an MECP2-IRAK1 haplotype with increased susceptibility to rheumatoid arthritis. (PubMed id 23233309)1 Han T.U....Kang C. (Arthritis Rheum. 2013)
    234. Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. (PubMed id 23446634)1 Chen Z....Reiner A.P. (Hum. Mol. Genet. 2013)
    235. The role of methyl-CpG binding protein 2 in liver fibrosis. (PubMed id 23619607)1 Bian E.B....Li J. (Toxicology 2013)
    236. Relationship between methyl CpG binding protein 2 and JC viral proteins. (PubMed id 23514909)1 Takahashi K....Tanaka S. (Jpn. J. Infect. Dis. 2013)
    237. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. (PubMed id 22883432)1 Hanchard N.A....Cheung S.W. (BMC Med. Genet. 2012)
    238. MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. (PubMed id 21982064)1 Psoni S....Fryssira-Kanioura H. (amp 2012)
    239. The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. (PubMed id 23055267)1 Cukier H.N....Gilbert J.R. (Autism Res 2012)
    240. Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress. (PubMed id 22751105)1 Chu L....Tomasson M.H. (J. Clin. Invest. 2012)
    241. Drosophila as a model for MECP2 gain of function in neurons. (PubMed id 22363746)1 Vonhoff F....Duch C. (PLoS ONE 2012)
    242. Molecular diagnostic dilemmas in Rett syndrome. (PubMed id 22277191)1 Zvereff V....Friedman K.J. (amp 2012)
    243. Novel double deletions in the MECP2 gene in Tunisian Rett patient. (PubMed id 22561697)1 Fendri-Kriaa N....Fakhfakh F. (Gene 2012)
    244. The phenotype associated with a large deletion on MECP2. (PubMed id 22473088)1 Bebbington A....Leonard H. (Eur. J. Hum. Genet. 2012)
    245. 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. (J. Child Neurol. 2012)
    246. Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation. (PubMed id 21300488)1 Khajuria R....Kabra M. (amp 2012)
    247. Subclinical myocardial dysfunction in Rett syndrome. (PubMed id 22113206)1 De Felice C....Hayek J. (Eur Heart J Cardiovasc Imaging 2012)
    248. 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. (BMC Med. Genet. 2012)
    249. Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. (PubMed id 22578097)1 Vignoli A....Canevini M.P. (Epilepsia 2012)
    250. The expression patterns and correlations of claudin-6, methy-CpG binding protein 2, DNA methyltransferase 1, histone deacetylase 1, acetyl-histone H3 and acetyl-histone H4 and their clinicopathological significance in breast invasive ductal carcinomas. (PubMed id 22455563)1 Xu X....Quan C. (Diagn Pathol 2012)
    251. Phosphorylation of distinct sites in MeCP2 modifies cofactor associations and the dynamics of transcriptional regulation. (PubMed id 22615490)1 Gonzales M.L....LaSalle J.M. (Mol. Cell. Biol. 2012)
    252. Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. (PubMed id 22497713)1 Falsaperla R....Pavone P. (Eur. J. Paediatr. Neurol. 2012)
    253. Knock-down of methyl CpG-binding protein 2 (MeCP2) causes alterations in cell proliferation and nuclear lamins expression in mammalian cells. (PubMed id 22783988)1 Babbio F....Bonapace I.M. (BMC Cell Biol. 2012)
    254. Genetic and epileptic features in Rett syndrome. (PubMed id 22476991)1 Kim H.J....Kang H.C. (Yonsei Med. J. 2012)
    255. Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome. (PubMed id 22357617)1 Squillaro T....Galderisi U. (Mol. Biol. Cell 2012)
    256. 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. (J. Child Neurol. 2012)
    257. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    258. MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys. (PubMed id 21821449)1 Tang S.S....Fallon P. (Eur. J. Paediatr. Neurol. 2012)
    259. Up-regulated methyl CpG binding protein-2 in intractable temporal lobe epilepsy patients and a rat model. (PubMed id 22707285)1 Tao S....Wang X. (Neurochem. Res. 2012)
    260. Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. (PubMed id 22213695)1 Gianakopoulos P.J....Vincent J.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012)
    261. Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. (PubMed id 21954873)1 Corbani S....Megarbane A. (J Intellect Disabil Res 2012)
    262. The relationship of Rett syndrome and MECP2 disorders to autism. (PubMed id 23226951)1 Neul J.L. (Dialogues Clin Neurosci 2012)
    263. The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints. (PubMed id 22528406)1 Honda S....Inazawa J. (Am. J. Med. Genet. A 2012)
    264. Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant. (PubMed id 22348320)1 Marschik P.B....Einspieler C. (Dev Med Child Neurol 2012)
    265. Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. (PubMed id 22119903)1 Goffin D....Zhou Z. (Nat. Neurosci. 2012)
    266. MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system. (PubMed id 23260135)1 MellAcn M....Heintz N. (Cell 2012)
    267. Elevated IKKI+ accelerates the differentiation of human neuronal progenitor cells and induces MeCP2-dependent BDNF expression. (PubMed id 22848609)1 Khoshnan A. and Patterson P.H. (PLoS ONE 2012)
    268. The Rett syndrome protein MeCP2 regulates synaptic scaling. (PubMed id 22262897)1 Qiu Z....Ghosh A. (J. Neurosci. 2012)
    269. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. (PubMed id 22331013)1 Motil K.J....Glaze D.G. (J. Pediatr. Gastroenterol. Nutr. 2012)
    270. 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. (Neural Plast. 2012)
    271. 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. (PLoS ONE 2012)
    272. The stress oncoprotein LEDGF/p75 interacts with the methyl CpG binding protein MeCP2 and influences its transcriptional activity. (PubMed id 22275515)1 Leoh L.S....Casiano C.A. (Mol. Cancer Res. 2012)
    273. A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. (PubMed id 22378884)1 Na E.S....Monteggia L.M. (J. Neurosci. 2012)
    274. Cell-autonomous alterations in dendritic arbor morphology and connectivity induced by overexpression of MeCP2 in Xenopus central neurons in vivo. (PubMed id 22427975)1 Marshak S....Cohen-Cory S. (PLoS ONE 2012)
    275. What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? (PubMed id 22182064)1 Zhang J....Wu X. (Clin. Genet. 2012)
    276. Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. (PubMed id 22525432)1 Todorov T....Mitev V. (Mutat. Res. 2012)
    277. A critical and cell-autonomous role for MeCP2 in synaptic scaling up. (PubMed id 23015442)1 Blackman M.P....Turrigiano G.G. (J. Neurosci. 2012)
    278. Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation. (PubMed id 22129561)1 Honda S....Inazawa J. (J. Hum. Genet. 2012)
    279. 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. (amp 2011)
    280. Co-localization of the oncogenic transcription factor MYCN and the DNA methyl binding protein MeCP2 at genomic sites in neuroblastoma. (PubMed id 21731748)1 Murphy D.M....Stallings R.L. (PLoS ONE 2011)
    281. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. (PubMed id 20479760)1 Piton A....Rouleau G.A. (Mol. Psychiatry 2011)
    282. Analysis of MECP2 gene copy number in boys with autism. (PubMed id 21531908)1 Xi C.Y....Gao H. (J. Child Neurol. 2011)
    283. Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. (PubMed id 20116947)1 Temudo T....Maciel P. (amp 2011)
    284. [Mutation analysis of methyl CpG-binding protein 2 gene(exon 3) in Hirschsprung disease and anorectal malformations]. (PubMed id 22030772)1 Wu M....Wang W.L. (Zhonghua Wei Chang Wai Ke Za Zhi 2011)
    285. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    286. Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial. (PubMed id 21654506)1 Freilinger M....Bodamer O.A. (J Dev Behav Pediatr 2011)
    287. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. (PubMed id 21326285)1 Grasshoff U....Wieczorek D. (Eur. J. Hum. Genet. 2011)
    288. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    289. Complexities of Rett syndrome and MeCP2. (PubMed id 21632916)1 Samaco R.C. and Neul J.L. (J. Neurosci. 2011)
    290. The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome. (PubMed id 21824415)1 Miyake K....Kubota T. (BMC Neurosci 2011)
    291. Rett syndrome: exploring the autism link. (PubMed id 21825235)1 Percy A.K. (Arch. Neurol. 2011)
    292. Fa88-neuroprostanes mediate neurological severity in Rett syndrome. (PubMed id 21530498)1 Signorini C....Hayek J. ( international journal of clinical chemistry 2011)
    293. 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. (J. Biol. Chem. 2011)
    294. High expression of MeCP2 in JC virus-infected cells of progressive multifocal leukoencephalopathy brains. (PubMed id 20497345)1 Shirai S....Tanaka S. (Neuropathology 2011)
    295. Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period. (PubMed id 21636779)1 Foley K.R....Leonard H. (J. Child Neurol. 2011)
    296. MeCP2 Rett mutations affect large scale chromatin organization. (PubMed id 21831886)1 Agarwal N....Cardoso M.C. (Hum. Mol. Genet. 2011)
    297. Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. (PubMed id 21372149)1 Cheung A.Y....Ellis J. (Hum. Mol. Genet. 2011)
    298. Histone modifications and methyl-CpG-binding domain protein levels at the TNFSF7 (CD70) promoter in SLE CD4+ T cells. (PubMed id 21865261)1 Zhou Y....Lu Q. (Lupus 2011)
    299. Biophysical analysis and small-angle X-ray scattering-derived structures of MeCP2-nucleosome complexes. (PubMed id 21278419)1 Yang C....Luger K. (Nucleic Acids Res. 2011)
    300. DNA binding restricts the intrinsic conformational flexibility of methyl CpG binding protein 2 (MeCP2). (PubMed id 21467044)1 Hansen J.C....Black B.E. (J. Biol. Chem. 2011)
    301. MECP2 duplications in six patients with complex sex chromosome rearrangements. (PubMed id 21119712)1 Breman A.M....Cheung S.W. (Eur. J. Hum. Genet. 2011)
    302. Essential role of MeCP2 in the regulation of myofibroblast differentiation during pulmonary fibrosis. (PubMed id 21435439)1 Hu B....Phan S.H. (Am. J. Pathol. 2011)
    303. Oxidative stress in Rett syndrome: natural history, genotype, and variants. (PubMed id 21888765)1 Leoncini S....Hayek J. (Redox Rep. 2011)
    304. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    305. De novo deletion in MECP2 in a monozygotic twin pair: a case report. (PubMed id 21871116)1 Mittal K....BK T. (BMC Med. Genet. 2011)
    306. Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. (PubMed id 21878110)1 Ravn K....Skjeldal O.H. (Orphanet J Rare Dis 2011)
    307. Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. (PubMed id 20631224)1 Fendri-Kriaa N....Fakhfakh F. (J. Child Neurol. 2010)
    308. The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. (PubMed id 20504995)1 Forlani G....Landsberger N. (Hum. Mol. Genet. 2010)
    309. Genetic association between methyl-CpG binding protein 2 (MECP2) and primary Sjogren's syndrome. (PubMed id 20215141)1 Cobb B.L....Sawalha A.H. (Ann. Rheum. Dis. 2010)
    310. Epigenetic silencing of peroxisome proliferator-activated receptor I^ is a biomarker for colorectal cancer progression and adverse patients' outcome. (PubMed id 21151932)1 Pancione M....Colantuoni V. (PLoS ONE 2010)
    311. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. (PubMed id 19914908)1 Bebbington A....Leonard H. (J. Med. Genet. 2010)
    312. Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China. (PubMed id 20207612)1 Zhu X....Wu X. (J. Child Neurol. 2010)
    313. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (PLoS ONE 2010)
    314. Up-regulation of the mu-opioid receptor gene is mediated through chromatin remodeling and transcriptional factors in differentiated neuronal cells. (PubMed id 20385708)1 Hwang C.K....Loh H.H. (Mol. Pharmacol. 2010)
    315. Cross talk between microRNA and epigenetic regulation in adult neurogenesis. (PubMed id 20368621)1 Szulwach K.E....Jin P. (J. Cell Biol. 2010)
    316. MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro. (PubMed id 20093853)1 Vecsler M....Gak E. (Epigenetics 2010)
    317. The role of calcium-dependent gene expression in autism spectrum disorders: lessons from MeCP2, Ube3a and beyond. (PubMed id 20956852)1 Qiu Z. and Cheng J. (Neurosignals 2010)
    318. L1 retrotransposition in neurons is modulated by MeCP2. (PubMed id 21085180)1 Muotri A.R....Gage F.H. (Nature 2010)
    319. Alternative polyadenylation of MeCP2: Influence of cis-acting elements and trans-acting factors. (PubMed id 20400852)1 Newnham C.M....Lutz C.S. (RNA Biol 2010)
    320. A novel transcriptional regulator of myelin gene expression: implications for neurodevelopmental disorders. (PubMed id 20697302)1 Vora P....Frost E.E. (Neuroreport 2010)
    321. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    322. Ocular MECP2 protein expression in patients with and without Rett syndrome. (PubMed id 20682201)1 Jain D....Eberhart C.G. (Pediatr. Neurol. 2010)
    323. Deciphering Rett syndrome with mouse genetics, epigenomics, and human neurons. (PubMed id 19900619)1 Tao J....Sun Y.E. (Int. Rev. Neurobiol. 2009)
    324. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    325. Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes. (PubMed id 19464849)1 Sawalha A.H....Scofield R.H. (J. Autoimmun. 2009)
    326. MECP2 mutation in one of Rett's original patients. (PubMed id 19724012)1 Freilinger M....Haas O.A. (J. Med. Genet. 2009)
    327. Neurologic aspects of MECP2 gene duplication in male patients. (PubMed id 19664534)1 Echenne Brouwer A.P. (Pediatr. Neurol. 2009)
    328. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. (PubMed id 20007372)1 Samaco R.C....Neul J.L. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    329. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    330. A moment's pause: putative nucleosome-based influences on MeCP2 regulation. (PubMed id 19898528)1 Thambirajah A.A. and AusiA^ J. (Biochem. Cell Biol. 2009)
    331. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    332. 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. (J. Child Neurol. 2009)
    333. Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study. (PubMed id 19442287)4 Suarez-Gestal M....Gonzalez A. (amp 2009)
    334. 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. (Sci. Signal. 2009)
    335. Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics. (PubMed id 19190538)1 Brendel C....Huppke P. (Pediatr. Res. 2009)
    336. Methyl-CpG-binding protein 2 is phosphorylated by homeodomain-interacting protein kinase 2 and contributes to apoptosis. (PubMed id 19820693)1 Bracaglia G....Kilstrup-Nielsen C. (EMBO Rep. 2009)
    337. Interaction between the inner nuclear membrane lamin B receptor and the heterochromatic methyl binding protein, MeCP2. (PubMed id 19331822)1 Guarda A....Badaracco G. (Exp. Cell Res. 2009)
    338. Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission. (PubMed id 19058783)1 Monteggia L.M. and Kavalali E.T. (Biol. Psychiatry 2009)
    339. The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform. (PubMed id 19034540)1 Fichou Y....Bienvenu T. (Neurogenetics 2009)
    340. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (Sci Signal 2009)
    341. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (Science 2009)
    342. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    343. MECP2 genomic structure and function: insights from ENCODE. (PubMed id 18820302)1 Singh J....Ravine D. (Nucleic Acids Res. 2008)
    344. Multiple de novo mutations in the MECP2 gene. (PubMed id 18652533)1 Bunyan D.J. and Robinson D.O. (Genet. Test. 2008)
    345. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. (PubMed id 18385275)1 Bauters M....Froyen G. (Genome Res. 2008)
    346. Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment. (PubMed id 19367720)2 Carrascal M.... Abian J. (J. Proteome Res. 2008)
    347. The diagnosis of autism in a female: could it be Rett syndrome? (PubMed id 17684768)1 Young D.J....Leonard H. (Eur. J. Pediatr. 2008)
    348. Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions. (PubMed id 18499664)1 Ghosh R.P....Woodcock C.L. (J. Biol. Chem. 2008)
    349. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    350. MeCP2 mutation causes distinguishable phases of acute and chronic defects in synaptogenesis and maintenance, respectively. (PubMed id 18295506)1 Palmer A....Ronnett G. (Mol. Cell. Neurosci. 2008)
    351. Regulation of myofibroblast transdifferentiation by DNA methylation and MeCP2: implications for wound healing and fibrogenesis. (PubMed id 16763620)1 Mann J....Mann D.A. (Cell Death Differ. 2007)
    352. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
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    355. Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. (PubMed id 17407838)1 Petel-Galil Y....Gak E. (J. Med. Genet. 2007)
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    445. Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. (PubMed id 12727440)9 Cohen D.R....Ronnett G.V. (Mol. Cell. Neurosci. 2003)
    446. Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation. (PubMed id 12788925)9 Georgel P.T....Hansen J.C. (J. Biol. Chem. 2003)
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    462. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. (PubMed id 14536082)9 Stancheva I....Meehan R.R. (Mol. Cell 2003)
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    500. Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus. (PubMed id 16052033)9 Auriol E....Dante R. (Nucleic Acids Res. 2005)
    501. Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). (PubMed id 15841480)9 Shi J....Sommer S.S. (Hum. Mutat. 2005)
    502. CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. (PubMed id 16330482)9 Lin C....Rosner M.R. (Hum. Mol. Genet. 2005)
    503. Methyl-CpG binding proteins in the nervous system. (PubMed id 15857580)9 Fan G. and Hutnick L. (Cell Res. 2005)
    504. MECP2 abnormality phenotypes: clinicopathologic area with broad variability. (PubMed id 16225826)9 Erlandson A. and Hagberg B. (J. Child Neurol. 2005)
    505. 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. (amp 2005)
    506. MeCP2 and promoter methylation cooperatively regulate E-cadherin gene expression in colorectal carcinoma. (PubMed id 12824891)9 Darwanto A....Kitazawa S. (Cancer Sci. 2003)
    507. 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. (Hum. Mutat. 2003)
    508. 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. (Arch. Dis. Child. Fetal Neonatal Ed. 2003)
    509. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. (PubMed id 12655490)9 Weaving L.S....Christodoulou J. (Am. J. Med. Genet. A 2003)
    510. 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. (Hum. Mutat. 2002)
    511. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. (PubMed id 12160743)9 Shahbazian M....Zoghbi H. (Neuron 2002)
    512. 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. (J. Virol. 2002)
    513. Deletion screening by fluorescence in situ hybridization in Rett syndrome patients. (PubMed id 11755104)9 Bourdon V....Jonveaux P. (Ann. Genet. 2001)
    514. R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis. (PubMed id 11738863)9 Amano K....Yamakawa K. (amp 2001)
    515. The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome. (PubMed id 11738865)9 Ishii T....Oki J. (amp 2001)
    516. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. (PubMed id 11746022)9 Zappella M....Renieri A. (Am. J. Med. Genet. 2001)
    517. Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA. (PubMed id 11371345)9 Ohki I....Shirakawa M. (Cell 2001)
    518. Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed. (PubMed id 11571704)9 Xiang F....Hagberg B. (Neuropediatrics 2001)
    519. Spectrum of MECP2 mutations in Rett syndrome. (PubMed id 11738860)9 Lee S.S....Francke U. (amp 2001)
    520. Methyl-CpG-binding protein 2 mutations in Rett syndrome. (PubMed id 10826991)9 Van den Veyver I.B. and Zoghbi H.Y. (amp 2000)
    521. Two affected boys in a Rett syndrome family: clinical and molecular findings. (PubMed id 11071498)9 Villard L....Fontes M. (Neurology 2000)
    522. Active repression of methylated genes by the chromosomal protein MBD1. (PubMed id 10648624)9 Ng H.-H.... Bird A. (Mol. Cell. Biol. 2000)
    523. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome. (PubMed id 10737989)9 Kim S.J. and Cook E.H. (Hum. Mutat. 2000)
    524. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. (PubMed id 19752159)9 Hynes K.... Scheffer I.E. (J. Med. Genet. 2010)
    525. Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. (PubMed id 20397747)9 White R....Christodoulou J. (Twin Res Hum Genet 2010)
    526. Chromatin modifiers, cognitive disorders, and imprinted genes. (PubMed id 20159587)9 Cunningham M.D....Pfeifer K. (Dev. Cell 2010)
    527. Role of DNA methylation and methyl-DNA binding proteins in the repression of 5-lipoxygenase promoter activity. (PubMed id 19781662)9 Katryniok C....Steinhilber D. (Biochim. Biophys. Acta 2010)
    528. Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. (PubMed id 20082459)9 Bartsch O....Haaf T. (Am. J. Med. Genet. A 2010)
    529. Epilepsy and the natural history of Rett syndrome. (PubMed id 20231667)9 Glaze D.G....Lee H.S. (Neurology 2010)
    530. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. (PubMed id 19809484)9 van Bon Vries B.B. (Eur. J. Hum. Genet. 2010)
    531. CpG methylation attenuates Sp1 and Sp3 binding to the human extracellular superoxide dismutase promoter and regulates its cell-specific expression. (PubMed id 20079429)9 Zelko I.N....Folz R.J. (amp 2010)
    532. Effects of sedation on auditory brainstem response in Rett syndrome. (PubMed id 20399386)9 Pillion J.P....Naidu S. (Pediatr. Neurol. 2010)
    533. Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. (PubMed id 20163734)9 Jentarra G.M....Narayanan V. (BMC Neurosci 2010)
    534. Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. (PubMed id 20142466)9 Condie J....Wainwright M.S. (J. Child Neurol. 2010)
    535. Chromosome 21-derived microRNAs provide an etiological basis for aberrant protein expression in human Down syndrome brains. (PubMed id 19897480)9 Kuhn D.E....Elton T.S. (J. Biol. Chem. 2010)
    536. Promoter demethylation and chromatin remodeling by green tea polyphenols leads to re-expression of GSTP1 in human prostate cancer cells. (PubMed id 19856314)9 Pandey M....Gupta S. (Int. J. Cancer 2010)
    537. Expression analysis and mutation detection of DLX5 and DLX6 in autism. (PubMed id 19195802)9 Nakashima N....Momoi M.Y. (amp 2010)
    538. A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. (PubMed id 19428276)9 Psoni S....Kitsiou-Tzeli S. (Eur. J. Paediatr. Neurol. 2010)
    539. Biogenic amines in Rett syndrome: the usual suspects. (PubMed id 19851857)9 Roux J.C. and Villard L. (Behav. Genet. 2010)
    540. Regulation of heterochromatin remodelling and myogenin expression during muscle differentiation by FAK interaction with MBD2. (PubMed id 19661918)9 Luo S.W....Xiong W.C. (EMBO J. 2009)
    541. Selective anchoring of DNA methyltransferases 3A and 3B to nucleosomes containing methylated DNA. (PubMed id 19620278)9 Jeong S....Jones P.A. (Mol. Cell. Biol. 2009)
    542. 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. (Mol. Pharmacol. 2009)
    543. [X-linked alpha-thalassemia/mental retardation syndrome]. (PubMed id 19489441)9 Wada T. (Rinsho Byori 2009)
    544. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. (PubMed id 18854860)9 Clayton-Smith J....Donnai D. (Eur. J. Hum. Genet. 2009)
    545. Temozolomide and carmustine cause large-scale heterochromatin reorganization in glioma cells. (PubMed id 19116135)9 Papait R....Cattaneo E. (Biochem. Biophys. Res. Commun. 2009)
    546. Could autism with mental retardation result from digenism and frequent de novo mutations? (PubMed id 19160128)9 Moraine C....Gomot M. (World J. Biol. Psychiatry 2009)
    547. Neuronal differentiation of neural precursor cells is promoted by the methyl-CpG-binding protein MeCP2. (PubMed id 19427855)9 Tsujimura K....Nakashima K. (Exp. Neurol. 2009)
    548. CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. (PubMed id 19740913)9 Ricciardi S....Broccoli V. (Hum. Mol. Genet. 2009)
    549. 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. (Carcinogenesis 2009)
    550. Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome. (PubMed id 18786650)9 Matarazzo M.R....D'Esposito M. (amp 2009)
    551. A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male. (PubMed id 18678449)9 Campos M....Pimentel M.M. (amp 2009)
    552. Enhanced dense core granule function and adrenal hypersecretion in a mouse model of Rett syndrome. (PubMed id 19674087)9 Ladas T....Katz D.M. (Eur. J. Neurosci. 2009)
    553. 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. (Cancer Res. 2009)
    554. [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. (Genetika 2009)
    555. 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. (J. Neurochem. 2009)
    556. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. (PubMed id 19208815)9 Tropea D....Sur M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    557. Regulation of oestrogen receptor gene expression: new insights and novel mechanisms. (PubMed id 19207817)9 Wilson M.E. and Westberry J.M. (J. Neuroendocrinol. 2009)
    558. Epigenetic regulation of Foxp3 expression in regulatory T cells by DNA methylation. (PubMed id 19109157)9 Lal G....Bromberg J.S. (J. Immunol. 2009)
    559. DNA methylation and methyl-CpG binding proteins: developmental requirements and function. (PubMed id 19506892)9 BogdanoviA8 O. and Veenstra G.J. (Chromosoma 2009)
    560. 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. (Am. J. Med. Genet. A 2009)
    561. Neurotrophic effects of Cerebrolysin in the Mecp2(308/Y) transgenic model of Rett syndrome. (PubMed id 18600331)9 Doppler E....Masliah E. (Acta Neuropathol. 2008)
    562. Epigenetic silencing of O6-methylguanine DNA methyltransferase gene in NiS-transformed cells. (PubMed id 18204074)9 Ji W....Zhuang Z. (Carcinogenesis 2008)
    563. The EBNA1 protein of Epstein-Barr virus functionally interacts with Brd4. (PubMed id 18922874)9 Lin A....Frappier L. (J. Virol. 2008)
    564. MeCP2 binding to DNA depends upon hydration at methyl-CpG. (PubMed id 18313390)9 Ho K.L....Walkinshaw M.D. (Mol. Cell 2008)
    565. Homocysteine-induced extracellular superoxide dismutase and its epigenetic mechanisms in monocytes. (PubMed id 18310117)9 Jiang Y....Wang S. (J. Exp. Biol. 2008)
    566. Abnormal DNA methylation in T cells from patients with subacute cutaneous lupus erythematosus. (PubMed id 18644019)9 Luo Y....Lu Q. (Br. J. Dermatol. 2008)
    567. The methyl-CpG-binding protein MeCP2 and neurological disease. (PubMed id 18631120)9 Bird A. (Biochem. Soc. Trans. 2008)
    568. 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    569. 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. (J. Neurophysiol. 2008)
    570. Analysis of X chromosome inactivation in autism spectrum disorders. (PubMed id 18361425)9 Gong X....Bourgeron T. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    571. [Autism, epilepsy and genetics]. (PubMed id 18302128)9 MuA+oz-Yunta J.A....Manchado F. (Rev Neurol 2008)
    572. Epigenetic silencers are enriched in dormant desert frog muscle. (PubMed id 18369641)9 Hudson N.J....Lehnert S.A. (J. Comp. Physiol. B, Biochem. Syst. Environ. Physiol. 2008)
    573. 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. (Eur. J. Pharmacol. 2008)
    574. 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. (Cytogenet. Genome Res. 2008)
    575. 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. (J. Bone Miner. Res. 2008)
    576. 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. (Anal. Chem. 2008)
    577. Activity-dependent suppression of miniature neurotransmission through the regulation of DNA methylation. (PubMed id 18184782)9 Nelson E.D....Monteggia L.M. (J. Neurosci. 2008)
    578. Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. (PubMed id 17439480)9 Roux J.C....Villard L. (Eur. J. Neurosci. 2007)
    579. Epigenetics and Neural developmental disorders: Washington DC, September 18 and 19, 2006. (PubMed id 17965627)9 Zhao X....Jin P. (Epigenetics 2007)
    580. MicroRNA in schizophrenia: genetic and expression analysis of miR-130b (22q11). (PubMed id 17573714)9 Burmistrova O.A....Rogaev E.I. (Biochemistry Mosc. 2007)
    581. 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. (Med. Hypotheses 2007)
    582. Aberrant epigenetic modifications in hepatocarcinogenesis induced by hepatitis B virus X protein. (PubMed id 17408664)9 Park I.Y....Lee Y.I. (Gastroenterology 2007)
    583. Mechanisms of disease: methyl-binding domain proteins as potential therapeutic targets in cancer. (PubMed id 17464338)9 Sansom O.J....Clarke A.R. (Nat Clin Pract Oncol 2007)
    584. 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. (Hum. Mutat. 2007)
    585. 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. (J. Virol. 2007)
    586. MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein? (PubMed id 17317146)9 Chadwick L.H. and Wade P.A. (amp 2007)
    587. How and when environmental agents and dietary factors affect the course of Alzheimer's disease: the &quot;LEARn&quot; model (latent early-life associated regulation) may explain the triggering of AD. (PubMed id 17430250)9 Lahiri D.K....Zawia N.H. (Curr Alzheimer Res 2007)
    588. 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. (Lung Cancer 2007)
    589. Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. (PubMed id 18058624)9 Ramaekers V.T....Quadros E.V. (Neuropediatrics 2007)
    590. Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome. (PubMed id 17363207)9 Itaba-Matsumoto N....Nanba E. (amp 2007)
    591. Multiple binding of methyl-CpG and polycomb proteins in long-term gene silencing events. (PubMed id 17133344)9 Matarazzo M.R....D'Esposito M. (J. Cell. Physiol. 2007)
    592. Molecular epigenetics of Angelman syndrome. (PubMed id 17347796)9 Lalande M. and Calciano M.A. (Cell. Mol. Life Sci. 2007)
    593. 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. (Eur. J. Paediatr. Neurol. 2007)
    594. Assistive technology and supplementary treatment for individuals with Rett syndrome. (PubMed id 17619776)9 Lotan M. (ScientificWorldJournal 2007)
    595. Homocysteine inhibits endothelial cell growth via DNA hypomethylation of the cyclin A gene. (PubMed id 17698632)9 Jamaluddin M.D....Wang H. (Blood 2007)
    596. Mbd2 contributes to DNA methylation-directed repression of the Xist gene. (PubMed id 17353271)9 Barr H....Bird A. (Mol. Cell. Biol. 2007)
    597. Lithium and antidepressants: potential agents for the treatment of Rett syndrome. (PubMed id 16584849)9 Tsai S.J. (Med. Hypotheses 2006)
    598. [Rett syndrome: a diagnostic, clinical and molecular update]. (PubMed id 16506134)9 Tejada M.I. (Rev Neurol 2006)
    599. 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. (Epigenetics 2006)
    600. 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. (Am. J. Med. Genet. A 2006)
    601. Aberrant promoter methylation of the ABCG2 gene in renal carcinoma. (PubMed id 16954373)9 To K.K....Bates S.E. (Mol. Cell. Biol. 2006)
    602. 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. (Oncogene 2006)
    603. 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. (Clin. Genet. 2006)
    604. Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. (PubMed id 15875198)9 Giampietro P.F....Roa B.B. (Childs Nerv Syst 2006)
    605. Rett syndrome. A review with emphasis on clinical characteristics and intervention. (PubMed id 17160339)9 Lotan M. and Ben-Zeev B. (ScientificWorldJournal 2006)
    606. The genetics of mental retardation. (PubMed id 16987873)9 Raymond F.L. and Tarpey P. (Hum. Mol. Genet. 2006)
    607. A new paradigm for West syndrome based on molecular and cell biology. (PubMed id 16806828)9 Kato M. (Epilepsy Res. 2006)
    608. Multiplex protocol suitable for screening for MECP2 mutations in girls with mental retardation. (PubMed id 16510438)9 Carvalho C.M....Pena S.D. (Clin. Chem. 2006)
    609. Engineering a high-affinity methyl-CpG-binding protein. (PubMed id 16893950)9 JA...Bird A.P. (Nucleic Acids Res. 2006)
    610. 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. (Gynecol. Oncol. 2006)
    611. Forensic issues and possible mechanisms of sudden death in Rett syndrome. (PubMed id 16263320)9 Byard R.W. (J Clin Forensic Med 2006)
    612. Very mild cases of Rett syndrome with skewed X inactivation. (PubMed id 16690727)9 Huppke P....GAortner J. (J. Med. Genet. 2006)
    613. 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. (J. Cell. Biochem. 2006)
    614. The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. (PubMed id 16418599)9 Abdul-Rahman O.A. and Hudgins L. (Genet. Med. 2006)
    615. The ups and downs of BDNF in Rett syndrome. (PubMed id 16446133)9 Sun Y.E. and Wu H. (Neuron 2006)
    616. [Non-specific X-linked mental retardation]. (PubMed id 16506138)9 MartA-nez-Castellano F. (Rev Neurol 2006)
    617. Methylation mediated silencing of TMS1/ASC gene in prostate cancer. (PubMed id 16848908)9 Das P.M....Singal R. (Mol. Cancer 2006)
    618. 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. (J. Biol. Chem. 2006)
    619. X linked mental retardation: a clinical guide. (PubMed id 16118346)9 Raymond F.L. (J. Med. Genet. 2006)
    620. 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. (Int. J. Cancer 2006)
    621. 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. (Mol. Cancer Ther. 2005)
    622. Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. (PubMed id 16354910)9 Viemari J.C....Hilaire G. (J. Neurosci. 2005)
    623. Early onset seizures and Rett-like features associated with mutations in CDKL5. (PubMed id 16015284)9 Evans J.C.... Clarke A.J. (Eur. J. Hum. Genet. 2005)
    624. Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation. (PubMed id 15939760)9 Brero A....Cardoso M.C. (J. Cell Biol. 2005)
    625. Another patient with MECP2 mutation without classic Rett syndrome phenotype. (PubMed id 15866439)9 Milani D....Riva D. (Pediatr. Neurol. 2005)
    626. 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. (J. Neuropathol. Exp. Neurol. 2005)
    627. Specific genetic disorders and autism: clinical contribution towards their identification. (PubMed id 15796126)9 Cohen D....HAcron D. (J Autism Dev Disord 2005)
    628. 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. (Nucleic Acids Res. 2005)
    629. 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. (Oncogene 2005)
    630. 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....GAortner J. (Am. J. Med. Genet. A 2005)
    631. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. (PubMed id 15689447)9 Scala E....Renieri A. (J. Med. Genet. 2005)
    632. Structural basis for APPTPPPLPP peptide recognition by the FBP11WW1 domain. (PubMed id 15811376)9 Pires J.R....Oschkinat H. (J. Mol. Biol. 2005)
    633. 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. (Brain Res. Dev. Brain Res. 2005)
    634. Mutation analysis of methyl-CpG binding protein family genes in autistic patients. (PubMed id 15967618)9 Li H....Momoi M.Y. (amp 2005)
    635. Rett syndrome: model of neurodevelopmental disorders. (PubMed id 16225824)9 Percy A.K. and Lane J.B. (J. Child Neurol. 2005)
    636. The transcriptional repressor Mecp2 regulates terminal neuronal differentiation. (PubMed id 15345242)9 Matarazzo V....Ronnett G.V. (Mol. Cell. Neurosci. 2004)

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    Entrez Gene: 4204 HGNC: 6990 AceView: MECP2 Ensembl:ENSG00000169057 euGenes: HUgn4204
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