Property Summary

NCBI Gene PubMed Count 458
PubMed Score 1827.63
PubTator Score 1277.20

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Intellectual disability 573 6.419 3.2

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 1.100 6.4e-06
osteosarcoma -1.314 1.3e-05
astrocytoma 1.100 1.4e-02
medulloblastoma, large-cell -1.100 1.5e-03
adult high grade glioma -1.200 1.3e-05
non primary Sjogren syndrome sicca 1.100 2.3e-02
subependymal giant cell astrocytoma -2.026 4.7e-03

Gene RIF (423)

PMID Text
27064487 Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.
26944080 revealed a genotype-specific effect of methyl-CpG-binding protein-2 (MeCP2) dysfunction on iPSC-derived neuronal migration and maturation (reduced neurite outgrowth and fewer synapses) in 3D layered hydrogels
26782401 A statistically significant difference was observed in the rs2239464 and rs2075596 polymorphisms of MECP2 between Systemic lupus erythematosus subjects and controls.
26648260 The aim of the present study was to evaluate the potential of MeCP2 for use as a therapeutic target for human colorectal cancer.
26546296 Study shows that MECP2 is commonly amplified oncogene in human malignancies with a unique epigenetic mechanism of action where its binding to 5-hydroxymethylcytosine is important for its anchorage-independent growth.
26525614 this study describes somatic, neurologic and mental symptoms of the patients with X chromosome distal long arm microduplications encompassing the MECP2 gene.
26420639 Xq28 duplication involving MECP2 is associated with brain diseases.
26418480 Effects of the most common Rett Syndrome -causing mutations on the stability of methyl-CpG-binding domain of MeCP2 have been investigated through in silico and in vitro studies.
26347316 We generated induced pluripotent stem cells (iPSCs) from patients with the MECP2 duplication syndrome (MECP2dup), carrying different duplication sizes, to study the impact of increased MeCP2 dosage in human neurons
26312503 The authors identify NUDT21 as a novel candidate for intellectual disability and neuropsychiatric disease, and elucidate a mechanism of pathogenesis by MeCP2 dysregulation via altered alternative polyadenylation.
26305530 MeCP2 and DNA methylation regulate RPE transdifferentiation and may be involved in the pathogenesis of PVR.
26245896 Karyopherin alpha 3 and karyopherin alpha 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.
26237041 Neurons acutely require the appropriate dose of MECP2 to function properly but do not die in its absence or overexpression. Instead, neuronal dysfunction can be reversed in a Rett syndrome mouse model if MeCP2 function is restored.
26235378 Results show that these antibodies are highly specific for dense fine speckles 70 protein DFS70/LEDGFp75 and do not target methyl CpG binding protein 2 (MeCP2).
26189965 Melittin induces PTCH1 expression by down-regulating MeCP2 and blocking Shh signaling in human hepatocellular carcinoma cells.
26175308 Functional performance in Rett syndrome patients may relate to the type of Mecp2 mutation
26156810 Study suggests that polymorphism in the MECP2 locus is associated with the susceptibility of Iranian patients to systemic lupus erythematosus.
26148505 MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution
26103880 The MECP-2 is the direct targets of miR-370 and miR-373, respectively, in human articular chondrocytes.
26064184 Comparative molecular dynamics simulations of R133C mutant and wild-type were performed to understand the impact of the mutation on structure, dynamics, and interactions of the protein and subsequently understand the disease mechanism in Rett syndrome.
26031318 MeCP2 is expressed throughout the gastrointestinal tract (GI). MeCP2 is expressed specifically in the enteric nervous system of the GI.
26004152 MeCP2 deficiency increases expression of TNFalpha and other inflammatory cytokines by enhancing NF-kappaB signaling. MeCP2 deficiency modifies the chromatin structure at the TNFalpha promoter.
25961023 MECP2 mRNA is selectively retained in HIV-1 Nef-expressing cellular exosomes, and eight miRNAs (miR-19a, miR-29b, miR-34a*, miR-146b, miR-181a, miR181c, miR-195, and let-7c) which target MECP2 mRNA are selectively secreted in exosomes from these cells
25840828 This study shown Mecp1 to be the risk factor for attention deficit/hyperactivity disorder
25827305 The expression of 5-hmC, 5-mC, and TET2 correlated with pathologic stage, tumor grading, lymph node metastasis, and vascular thrombosis.
25798578 MECP2 targets short interspersed nuclear elements, but does not exclude RNA Polymerase III.
25762136 identification of a genome-wide length-dependent increase in gene expression in MeCP2 mutant mouse models and human Rett syndrome brains
25721700 increased susceptibility to infections in MECP2 duplication syndrome is associated with IgA/IgG2-deficiency, low antibody titers against pneumococci and elevated acute-phase responses.
25705847 CpG DNA methylation in MITF is important in the melanoma skin cancer development.
25656446 Periconceptional maternal alcohol consumption increases the methylation level of the MeCP2 promoter region of newborns.
25644311 MECP2e1 mutation affects soma size, information encoding properties and synaptic connectivity in human neurons that are defective in Rett Syndrome.
25617893 induction of miR-132/212 following bladder outlet obstruction: association with MeCP2 repression and cell viability
25613065 the differentially expressed IGFBP4, HOXC8, LMO4, MDK, and CTGF genes may be involved in MeCP2 gene-mediated proliferation and apoptosis in osteosarcoma cells.
25574748 Methyl-CpG binding protein 2 is a receptor of innate immunity and receptor for advanced glycation end-products in human viral meningoencephalitis
25458699 results firstly indicated that IRAK1 and MECP2 genes are crucial risk factors for AITDs.
25428820 girls with Rett syndrome with a p.Arg133Cys mutation were the most likely to use 1 or more words prior to and after speech-language regression; they vary in their use of speech and language, and in their experience of speech-language regression and these variations are partly explained by genotype
25355316 RNF4 mediates ubiquitination and turnover of MeCP2 and thus derepresses transcription from DNA methylation.
25290267 Autism investigators found an increase in 5-hmC and TET1 expression associated with a decrease in 5-mC and an unexpected increase in MeCP2 binding in the promoters of these downregulated genes.
25227661 silencing the MeCP2 gene could block the MeCP2 expression and inhibit the tumor cell migration, invasion, and proliferation, and decreases the tumor size by inducing the apoptosis of the tumor cells.
25124696 Study describes the various mutations of MECP2 associated with specific phenotypes and symptoms of Rett syndrome in a large cohort.
25076025 Insufficient binding of MeCP2 with methylated DNA disrupts the proper expression of target genes and results in brain dysfunction.[review]
25037250 Like in males, increased MECP2 dosage in females can contribute to intellectual disability (ID) too.
25008110 MeCP2 is required for both circuitry refinement and activity-dependent transcriptional responses in olfactory sensory neurons.
24970834 there are two domains critical for MeCP2 function in human MeCP2-expressing Rett-causing mutant mice
24914495 Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.
24777420 Large-scale loss of MeCP2 from forebrain interneurons leads to deficits in auditory event-related potentials in transgenic mice model of Rett syndrome.
24776956 In this study, gamma-band oscillatory responses to familiar and novel voices were examined and related to social functioning in 17 children (3-11 years old) with MECP2 duplication (n = 12) and Rett syndrome (n = 5).
24769161 The present study indicates that oxidative brain damage is a previously unrecognized hallmark feature of murine RTT, and suggests that Mecp2 is involved in the protection of the brain from oxidative stress.
24750837 Mutations in the transcriptional repression domain (TRD)of MECP2 protein may affect the language ability and development in children with Rett syndrome.
24738188 Its mutation causes Rett syndrome.(review)
24709033 MECP2 rs17435 genetic variant do not play a significant role in giant cell arteritis susceptibility or severity.
24671997 The data of this study showed that phosphorylation of MeCP2 at Ser421 functions to limit the circuit plasticities in the nucleus accumbens that underlie addictive-like behaviors.
24657916 MECP2 overexpression affects neural tube formation, leading to a decrease in neuroblast proliferation in the neural tube ventricular zone. An increase in MECP2 dose provokes premature differentiation of neural precursors accompanied by greater cell death.
24657437 MiR-432 regulates neuronal differentiation of human neuroblastoma cells and significantly represses NESTIN and MECP2 expression.
24648499 Authors found MECP2 single nucleotide polymorphism rs2239464 (G/A) and rs2734647 (C/T; 3'UTR) associated with aggression, with the G and C carriers, respectively, being more aggressive.
24626160 These results demonstrate that different RTT mutations lead to distinct respiratory phenotypes, suggesting that characterization of the respiratory phenotype may reveal functional differences between MeCP2 mutations
24615633 MeCP2 mutations are the most prevalent cause of Rett syndrome. MeCP2 is also involved in other neurodevelopmental disorders. Review.
24594195 defects in transcriptional regulation, directly or indirectly caused by a dys-functional MeCP2, ultimately cause the cellular and circuital defectsobserved in Rett syndrome.
24531693 ChIP analysis of MeCP2 binding to progesterone receptor-B (PR-B) gene in PR-B-positive/-negative endometrial cancer samples confirmed the significant role of MeCP2 in PR-B gene silencing.
24528171 A pathogenic MECP2 mutation in gallblaadder disease determines the incidence of cholelithiasis and/or cholecystectomy in Rett syndrome, as described in this study of gallbladder function in a clinical cohort.
24478188 Xq28 duplication syndrome including MECP2 is a neurodevelopmental disorder.
24458799 Which revealed the MECP2 gene duplication.
24448211 Epigenetic mechanisms underlie the transcriptional regulation of MeCP2 in cerebella of ASD patients, including the binding of MeCP2 to GAD1 and RELN promoters and gene bodies.
24419315 Mutant RTT astrocytes carrying three different RTT mutations have adverse effects on the morphology and function of wild-type neurons.
24399845 Studied the relationship between MECP2 mutation status and various phenotypic measures of Rett syndrome over time.
24328834 Report on the first female with the A140V MECP2 mutation presenting with late onset cognitive regression, pyramidal symptoms, parkinsonism, and bipolar symptoms.
24300809 absence of intragenic mutations in MECP2 gene is not sufficient criteria to reject the clinical diagnosis of RTT.
24291980 Its mutation causes Rett syndrome.
24199952 After MeCP2 siRNA treatment, p-ERK1/2 levels decreased, but p-p38 levels increased.
24150225 The experimental data reveal a prominent allele-specific regulation of MET transcription by MeCP2 which plays a role in ASD and Rett syndrome.
24129406 Fundamental cellular physiology is affected by mutations in MECP2 from early development.
24129071 present a karyotypically normal male with features characteristic of the MECP2 duplication syndrome
24094964 Results indicated that an aberrant decreased level of MeCP2 may play an important role in the pathogenesis of Hirschsprung's disease.
24094325 The MECP2 functions as a global activator in neurons but not in neural precursors.
24043878 MECP2 rs2734647 was associated with risk of schizophrenia in a Han Chinese population.
23948639 The data of this study suggest that the differential expression of genes following loss of MeCP2 occurs in a tissue- or cell-type specific manner and thus MeCP2 function should be understood in a cellular context.
23938295 The data indicate that intragenic DNA methylation operates in exon definition to modulate alternative RNA splicing and can enhance exon recognition via recruitment of the multifunctional protein MeCP2.
23938294 The new study reveals the intricate biochemical complexity of de novo post-translational modifications of MeCP2, including NCoR complex to chromatin and lead to alterations in gene expression that characterize Rett syndrome.
23921973 this report presents four people with neurodevelopmental abnormalities and clear Rett syndrome (RTT) causing MECP2 mutation but lacking the characteristic clinical features of RTT.
23866855 we have identified a novel synonymous mutation in the coding portion of exon1 of MECP2_E1 at position c.48C> causing a cryptic splice event in a Rett syndrome patient.
23857988 Mutations of SNPs (rs2075596, rs2239464) of MeCP2 showed increased risk of developing systemic lupus erythematosus
23791832 MeCP2 and E6AP play a role in the transcriptional control of common target gene expression.
23770565 The data of this study are compatible with the hypothesis that brain dysfunction in RTT is caused by a loss of the MeCP2 'bridge' between the NCoR/SMRT co-repressors and chromatin.
23750231 Mecp2 regulates the expression of components belonging to the dysbindin interactome
23696494 The presence of multiple MECP2 mutations was not associated with greater severity in Rett syndrome patients.
23659895 The results of this study found that in Mecp2 loss-of-function mouse models, dendritic complexity is reduced in a mild, age-dependent, and brain region-specific manner, whereas soma size is reduced consistently throughout development.
23633923 BIM silencing in anaplastic large cell lymphoma occurs through recruitment of MeCP2 and the SIN3a/histone deacetylase 1/2 corepressor complex.
23624957 HLCS interacts physically with the DNA methyltransferase DNMT1 and the methyl CpG binding protein MeCP2 to facilitate the binding of HLCS to chromatin.
23619607 [review] This review focuses on the role of MeCP2 transcriptional regulation of different target genes and the interaction of MeCP2 with microRNAs during liver fibrosis.
23565077 The strength of input-output entrainment is significantly weaker in Mecp2 transgenic mice.
23514909 Authors found that JC virus T antigen enhances the promoter activity of MeCP2, but does not enhance the mRNA and protein levels of MeCP2.
23493374 Recruitment of Creb1-Mecp2 by glut3-(m)CpG contributes towards transactivation, formulating an escape from (m)CpG-induced gene suppression, and thereby promoting developmental neuronal glut3 gene transcription and expression.
23452848 Using transgenic mice that express either MeCP2-R270X or MeCP2-G273X Rett syndrome models were generated. MECP2 locus were studied over the course of the disease; phenotypes associated with MeCP2 dysfunction uncovered a key domain in MeCP2 critical for its role in chromatin organization.
23449173 [review] Although MeCP2 has diverse functions, examination of MeCP2 mutant mice suggests the hypothesis that MeCP2 deficiency leads to aberrant maturation and maintenance of synapses and circuits in multiple brain systems.
23444193 The data suggest the existence of two independent signals within the Xq28 region, one in IRAK1 related to pulmonary fibrosis and another in MECP2 related to diffuse cutaneous systemic sclerosis.
23431031 miR-483-5p, an intragenic microRNA of the imprinted IGF2, regulates MeCP2 levels through a human-specific binding site in the MECP2 long 3' UTR
23428850 Data suggest that the lupus-associated variant in the MECP2/IRAK1 locus has the potential to affect all 3 epigenetic mechanisms: DNA methylation, microRNA expression, and histone modification.
23400946 Analyzed MECP2 mutations in ten Indian sporadic patients diagnosed clinically as having Rett syndrome (RTT).
23349465 Data suggest that the histone deacetylase-independent mechanism of MeCP2-mediated repression may be important in cells, such as mammalian neurons, that have high levels of CG methylation and MeCP2.
23262346 we have confirmed that mutations in MECP2 are responsible for Rett syndrome.
23260135 Data support a model in which MeCP2 binding to 5-hydroxymethylcytosine can facilitate transcription in neural cell types while at the same time acting in repression when bound to 5-methylcytosine containing DNA.
23238081 analyze microtubule stability in primary fibroblast cultures from patients with Rett syndrome and identify a significant decrease in stability compared to controls
23233309 2 nonsynonymous IRAK1 single nucleotide polymorphisms, rs1059702 (P = 0.0034) and rs1059703 (P = 0.0042), which were in strong linkage disequilibrium with the MECP2 SNP(D' = 0.87 and 0.91, respectively) affected IRAK1 protein activity.
23226951 The many clinical features found in RTT and the various clinical problems that result from alteration in MeCP2 function have led to the belief that understanding RTT will provide insight into a number of other neurological disorders
23169761 Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders.
23135915 Our findings unveil a new epigenetic regulatory process in which Z-DNA/MeCP2/NF1 interaction leads to transcriptional suppression, loss of which results in ADAM-12 overexpression in breast cancer cells.
23123205 MeCP2 expression is regulated in part by signaling pathways involving NFkappaB
23055267 Rett syndrome, is caused almost exclusively by alterations in MECP2.
23015442 This study demonistrated that MeCP2 as a critical mediator of synaptic scaling.
22909152 this is the first identification and characterization of Chinese Han autism patients with MECP2-containing duplications.
22904263 These data suggest contributions of both IRAK1 and MECP2 to systemic lupus erythematosus susceptibility.
22883432 The clinical and molecular findings imply a minimal critical region for the full neurocognitive expression of the MECP2 duplication syndrome, and suggest a role for the 3' UTR in mitigating the severity of the disease phenotype.
22877836 This study suggested clinical implications of the MECP2 duplication syndrome not only in the male but also in female patients with unexplained mental retardation..
22848609 a role for IKKalpha in accelerating the differentiation of human NPCs and identify IKKalpha as a potential regulator of MeCP2 function and BDNF expression
22783988 In absence of MeCP2 cells have reduced levels of NE components, such as lamins and LBR, thereby losing their ability to correctly assemble their NE, together with decreased in cell proliferation and viability.
22781840 This review highlights the functional role of MeCP2 in the brain as a regulator of synaptic and neuronal plasticity.
22707285 Up-regulated expression of MeCP2 in intractable temporal lobe epilepsy patients and experimental animals suggested that MeCP2 may be involved in the pathogenesis of temporal lobe epilepsy
22615490 pS229 MeCP2 was specifically enriched at the RET promoter, and phosphorylation of MeCP2 was necessary for differentiation-induced activation and repression of the MeCP2 target genes RET and EGR2.
22578097 This study presented that Electroclinical pattern in MECP2 duplication in epilepsy.
22561697 The presence of a novel point mutation c.C1142T (p.P381L) and two deletions at the heterozygous state: a novel deletion c.1075delTTC (p.S359) and a known one c.1157del44 (p.L386Q fs X2) in the C-terminal region of MeCP2.
22532851 These findings suggest that MeCP2 affects astroglial genes expression in cultured astrocytes, and that abnormal Glu clearance in MeCP2-deficient astrocytes may influence the onset and progression of Rett syndrome.
22528406 there is an association between the location of the distal breakpoint in MECP2 duplication syndrome and the presence of hypoplasia of the corpus callosum.
22525432 study presents 9 types of mutations in the MECP2 gene, detected in a group of 22 Bulgarian and 6 Romanian classical Rett syndrome patients; a novel complex mutational event c.[584_624del41insTT; 638delTinsCA] was detected in a Romanian patient
22497713 Clinical suspicion and molecular confirmation of MECP2 mutation is of great importance for defining the diagnosis of severe neonatal hypotonia-respiratory failure
22476991 Study identified MECP2 mutations in all 20 Rett syndrome patients. The mutations consisted of 14 distinct types, including seven missense, four nonsense, and three frameshift mutations.
22474603 Although Rett Syndrome is a progressive and postnatal neurological disorder, the consequences of MeCP2 deficiencies initiate much earlier and before birth.
22473088 Large deletions in the MECP2 gene are associated with a more severe phenotype in the Rett syndrome patients.
22455563 MeCP2, DNMT1 and H4Ac expression levels did not correlate with any of tested clinicopathological parameters in breast invasive ductal carcinoma tissues
22427975 Cell-autonomous alterations in dendritic arbor morphology and connectivity were induced by overexpression of human MeCP2 in Xenopus central neurons in vivo.
22378884 Transgenic overexpression of MeCP2 in the Tau-Mecp2 mouse line shows motor coordination deficits, heightened anxiety, and impairments in learning and memory that are accompanied by deficits in long-term potentiation and short-term synaptic plasticity.
22363746 Heterologous expression of human MECP2 in Drosophila motoneurons causes distinct defects in dendritic structure and motor behavior.
22357617 data suggest neural cell fate decisions and neuronal maintenance may be perturbed by the senescence triggered by impaired MECP2 activity either before or after neural differentiation
22348320 The intermittent character of normal versus abnormal verbal behaviours might contribute to an early identification of children with a possible genetic mutation, and provides evidence that speech-language functions are abnormal from the very beginning.
22331013 Height-for-age and weight-for-age, but not body mass index-for-age z scores were significantly lower in female Rett Syndrome subjects with MECP2 mutations than in those without.
22277191 This study demonstrated the importance of family studies, highlight the complexity of interpretation of MECP2 alterations, and suggest that a cautious and multifactorial approach to the clinical interpretation of MECP2 mutations is essential
22275515 The LEDGF/p75-MeCP2 interaction differentially influences Hsp27pr activation depending on the cellular and molecular context.
22262897 This demonistrated that MeCP2 mediates activity-dependent synaptic scaling.
22213695 Mutations in MECP2 exon 1 in Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
22182064 MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly of paternal origin {95.5% of sporadic Chinese cases).
22129561 microduplications of MECP2 and ATRX in male patients with severe mental retardation
22123427 This study suggested that sequencing of exons 1 to 4 of MECP2 is recommended for patients with a Rett syndrome phenotype, unexplained neonatal encephalopathy, an Angelman syndrome phenotype, nonspecific mental retardation, or autism (females).
22119903 The age-dependent development of event-related neuronal responses was disrupted by MeCP2(T158A) mutation.
22113206 The researchers report on new evidence of subclinical myocardial dysfunction associated with MeCP2 mutations in typical and atypical Rett syndrome patients.
22030772 Mutation of MeCP2-E3 is present in the peripheral blood of children with Hirschsprung disease and anorectal malformations.
22009741 HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) in mouse and human, and affects the behavior of mice
21982064 Mutations were detected in approximately 70% of classic and approximately 21% of variant RTT, respectively. Amongst MR cases, 2.1% carried MECP2 mutations.
21954873 Genotype/phenotype correlation is discussed and the importance of a molecular study of MECP2 gene in patients with very mild features or a regression after the age of 2 is raised.
21940684 This study demonistrated that point mutations in the C-terminal region: 2 novel mutations in the 2 typical Rett syndrome girls, but also mutation first described in the atypical Rett syndrome patient.
21888765 Rett syndrome (RTT) is an X-linked autism spectrum disorder caused by mutations in the MeCP2 gene in the great majority of cases.
21878110 study describes 2 new Rett syndrome families and reviews the literature; found de novo MECP2 frameshift mutations frequently to be of paternal origin, although not with the same high paternal occurrence as in sporadic cases with C to T transitions
21871116 twins with Rett syndrome shared a de novo deletion in exon 3 in the MBD domain of MECP2
21865261 These findings indicate that aberrant histone modifications within the TNFSF7 promoter may contribute to the development of lupus by increasing CD70 expression in CD4(+) T cells.
21831886 Different interactions of MeCP2 with methyl cytosines, DNA and likely other heterochromatin proteins are required for MeCP2 function and their dysfunction lead to Rett syndrome.
21825235 This review summarizes the broad range of phenotypes resulting from mutations in MECP2, which is responsible for Rett syndrome in 95% of individuals with the disorder.
21824415 MeCP2 binds to the upstream regions of protocadherin genes PCDHB1 and PCDH7 in human neuroblastoma cells; MeCP2 aberrant regulation of these molecules may contribute to the pathogenesis of the neurological features observed in Rett syndrome
21821449 Our cases indicate that MECP2 triplication is similar to or more severe than that of MECP2 duplication syndrome
21731748 MYCN and MeCP2 protein interact and co-localize to similar genomic sites at very high frequency.
21654506 Supplementation of creatine monohydrate in a cohort of female patients with Rett syndrome and MECP2 mutation leads to a statistically significant increase of global DNA methylation.
21636779 Girls with a p.R294X mutation of MECP2 were more likely to lose complex motor skills.
21632916 Review of mecp2 role in Rhett syndrome,and in brain function.
21531908 This study suggested that duplication of the MECP2 gene has no major effect on the susceptibility to autism.
21530498 Rett syndrome (RTT) is a pervasive development disorder, mainly caused by mutations in the methyl-CpG binding protein 2 (MeCP2) gene.
21467044 DNA binding restricts the intrinsic conformational flexibility of methyl CpG binding protein 2 (MeCP2).
21435439 MeCP2 is essential for myofibroblast differentiation and pulmonary fibrosis
21372149 The functionally null mutation in MECP2 is a deletion that removes the entire methyl-CpG binding domain and transcriptional repression domain from the coding region.
21326285 Study reports on two unrelated female patients with a de novo MECP2 duplication and a random X-inactivation, revealing a moderate but unspecific mental retardation in childhood and the development of neurological features in the second decade of life.
21316312 loss of function mutations in the gene play role in Rett Syndrome (Review)
21300488 we report a unique family carrying non-identical MECP2 mutations in exon 2
21119712 six cases with sex chromosome rearrangements involving duplication of the dosage-sensitive MECP2 gene were reported.
21085180 data demonstrate that L1 retrotransposition can be controlled in a tissue-specific manner and that disease-related genetic mutations can influence the frequency of neuronal L1 retrotransposition
20956852 These studies suggest that autism spectrum disorders may be caused by the mutation of MECP2.
20881011 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20728410 Observational study of gene-disease association. (HuGE Navigator)
20697302 A known transcriptional regulator, methyl-CpG-binding protein 2, is identified that regulates myelin specific gene expression in a transgenic mouse.
20682201 The findings suggest that the normally limited expression of MECP2 in visual pathway neurons may underlie the intact vision observed in Rett syndrome.
20661168 Results suggest that MECP2 mutations and clinical parameters impact bone mass in Rett syndrome, but an association with a specific mutation was not demonstrable.
20661168 Observational study of gene-disease association. (HuGE Navigator)
20631224 mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome (a novel double mutation)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20504995 Data show that MeCP2 cooperates with YY1 in repressing the ANT1 gene encoding a mitochondrial adenine nucleotide translocase.
20497345 We conclude that MeCP2 is highly expressed in the JCV-infected nuclei of progressive multifocal leukoencephalopathy brain
20491871 Observational study of gene-disease association. (HuGE Navigator)
20479760 Observational study of gene-disease association. (HuGE Navigator)
20425824 This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
20425824 Observational study of gene-disease association. (HuGE Navigator)
20425814 The history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, is summarized.
20425298 Review. Role of MeCP2 in brain development and neurodevelopmental disorders.
20420693 The mitochondrion has long been implicated in the pathogenesis of RTT, however it has not been at the forefront of RTT research interest since the discovery of MECP2 mutations.
20405910 New mechanistic and biochemical insights regarding the conformational modulations of this intrinsically disordered protein, and its context-dependent in vivo roles.
20400852 Altered RNA stability is not a major factor in differential MeCP2 3' UTR usage.
20376788 In Chinese patients with Rett syndrome, the MECP2 mutations are mostly of paternal origin.
20376788 Observational study of gene-disease association. (HuGE Navigator)
20345957 Observational study of gene-disease association. (HuGE Navigator)
20215141 the genetic association of MECP2 and lupus suggests a role for genetic-epigenetic interaction in the pathogenesis of the disease but whether abnormal DNA methylation is also involved in the pathogenesis of primary Sjogren syndrome remains to be studied.
20207612 indicated a predominant occurrence of de novo methyl-CpG-binding protein 2 gene mutations in paternal germ line cells and may help to explain the predominant occurrence of Rett syndrome in females
20116947 Results describe the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations.
20116947 Observational study of gene-disease association. (HuGE Navigator)
20098342 Document MECP2 gene mutations as a rare cause of mental retardation in males although great phenotypic variation hinders genotype-phenotype correlation.
20093853 MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro
20065105 these results indicate that the silencing of MECP2 induces an increase in methylated cytosines in the genome.
20035514 This study characterizes the clinical and neuropsychiatric phenotypes of affected boys and carrier females in individuals with MeCP2 duplication syndrome.
20032810 Observational study of gene-disease association. (HuGE Navigator)
20032179 Data show that the carboxy-terminal DNA-binding/dimerization domain of KSHV LANA provides the principal interaction with MeCP2 but that this association is modulated by the chromatin-binding motif.
20031356 Twenty-nine sequence variations were detected in patients with the classic form of Rett syndrome, and 15 patients with atypical forms of Rett syndrome
20031356 Observational study of gene-disease association. (HuGE Navigator)
20019788 MeCP2 can function as both an activator and a repressor of transcription in Rett syndrome.
20007372 Deleting Mecp2 from either TH-positive dopaminergic and noradrenergic neurons or PET1-positive serotonergic neurons in mice decreased corresponding neurotransmitter concentration and specific phenotypes
19914908 Results show lower severity of Rett syndrome was associated with C-terminal deletions (n=79) compared to all other MECP2 mutations.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19900619 deciphering the role of MeCP2 on a genome-wide scale is important for understanding of the Rett syndrome disease mechanisms--REVIEW
19898528 By understanding the chromatin and (or) tissue context in which MeCP2 interacts, it may be possible to discern the specific etiology of diseases linked to MeCP2 dysfunction.
19844254 The clinical and genetic characterization of a new X-linked mental retardation syndrome characterized by short stature, hypogonadism and facial dysmorphism caused by a small Xq27.3q28 interstitial duplication encompassing the FMR1 gene, is reported.
19820693 MeCP2 cooperates with HIPK2 in induction of apoptosis and Ser 80 phosphorylation is required together with the DNA binding of MeCP2.
19806472 Results suggest that the overexpression of MECP2 caused by duplications involving this gene is a relatively frequent genetic cause of mental retardation in males.
19806472 Observational study of gene-disease association. (HuGE Navigator)
19736351 Observational study of gene-disease association. (HuGE Navigator)
19724012 In one of Rett's original patients we identified a single nucleotide deletion in exon 4 codon 237 (c.710delG), an already previously published frame shift mutation that causes a premature stop codon after amino acid 246.
19722030 Observational study of gene-disease association. (HuGE Navigator)
19717458 A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.
19717458 Observational study of gene-disease association. (HuGE Navigator)
19664534 MECP2 gene duplication may be suggested by clinical and electroencephalographic characteristics of epilepsy when seizures occur and the frequency of nonspecific cerebral MRI abnormalities
19652677 MECP2 mutations were found in 20% of patients with Rett syndrome
19652677 Observational study of gene-disease association. (HuGE Navigator)
19592282 A family study indicates that a novel X-chromosome linked syndrome is most likely due to an unreported MECP2 variant, p.V122A, located in the methyl binding domain of the MECP2 protein
19573459 Rett syndrome patients with nonsense mutations located in the methyl-CpG-binding domain tend to develop a more severe phenotype.
19562714 Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls
19562714 Observational study of gene-disease association. (HuGE Navigator)
19559301 Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms previously not described in these patients
19552836 Observational study of gene-disease association. (HuGE Navigator)
19495527 The researchers found evidence of MECP2 mutations in 65% of patients with Rett Syndrome in a population group.
19495527 Observational study of gene-disease association. (HuGE Navigator)
19464849 single nucleotide polymorphism is associated with lupus in two ethnically divergent lupus cohorts
19442733 reduced dendritic spine density in hippocampal pyramidal neurons from Rett syndrome (RTT) patients and neurons with MECP2 mutations or Mecp2 knockdown, suggesting that this phenotype represent a cell-autonomous consequence of MeCP2 dysfunction
19386901 Pronounced loss of MeCP2 observed selectively in astrocytes in mouse heterozygous Mecp2-/+ brain is coincident with phenotypic regression characteristic of Rett syndrome.
19365833 exon 1 mutations may be associated with a severe phenotype of Rett syndrome.
19365833 Observational study of gene-disease association. (HuGE Navigator)
19333917 Polymorphism in the MECP2 locus is associated with lupus and, at least in part, contributes to the interferon signature observed in lupus patients
19333917 Observational study of gene-disease association. (HuGE Navigator)
19331822 MeCP2 interacts in vitro and in vivo with the inner nuclear membrane protein LBR, and the unstructured aminoacidic sequence linking the MBD and TRD domains of MeCP2 is responsible for this association.
19324899 MECP2 gene duplications can occur by fork stalling and template switching.
19309283 DNA mutation analysis revealed mutations in exon 4 of MECP2 gene in two Tunisian patients affected with Rett syndrome.
19309269 Observational study of genetic testing. (HuGE Navigator)
19194883 Compared with patients with T158X, R255X, and R294X mutations, and C-terminal deletions, patients with the R168X mutation tended to have the greatest severity score (0.01 < or = p < or = 0.11) and the lowest NAA/Cr ratio (0.029 < or = p < 0.14).
19194883 Observational study of gene-disease association. (HuGE Navigator)
19190538 Aminoglycoside-mediated read-through of nonsense mutations in the MECP2 gene can be achieved in vitro with efficiency comparable with that seen in other disorders.
19189931 MECP2 gene mutations in Italian patients with pervasive developmental disorder and mental retardation; a wide phenotypic spectrum is associated with the variants of the MECP2 gene, which may play an important role in gene regulation and neurodevelopment
19189931 Observational study of gene-disease association. (HuGE Navigator)
19174478 These results imply that MeCP2 is involved in the regulation of neuronal alpha-tubulin and add molecular evidence that reversal of the effects of MeCP2 deficiency is achievable
19168818 did not detect any pathogenic mutations in the MECP2 gene in Rett syndrome-like patients
19165708 Observational study of gene-disease association. (HuGE Navigator)
19133691 examples of disorder profiles of different recurrent MECP2 mutations are discussed
19133691 Observational study of gene-disease association. (HuGE Navigator)
19125863 one or more functional variants of MECP2 existing at significant frequencies in the population may confer increased risk of autism/autism spectrum disorders
19125863 Observational study of gene-disease association. (HuGE Navigator)
19058789 Observational study of gene-disease association. (HuGE Navigator)
19058783 Recent studies have identified synaptic deficits associated with the loss of MeCP2 in several brain regions, including the hippocampus--{REVIEW}
19057379 Two brothers with a microduplication including the MEPC2 gene: rapid head growth in infancy and resolution lof susceptibility to infection is reported.
19034540 Data suggest the important involvement of the N-terminus in the function of MeCP2 protein, and provide further evidence for the major impact of a specific MeCP2e_1 deficiency in the development of intellectual processing.
19018795 his suggests that MECP2 duplication should be considered in patients being investigated for neurodegenerative disease.
19000991 Dysregulation of EGR2 and MeCP2 plays roles in in Rett syndrome and autism.
18989701 a gradient of impairment is present when the p.P152A mutation is compared with an allelic p.P152R mutation, which causes classic Rett syndrome
18985075 MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
18985075 Observational study of gene-disease association. (HuGE Navigator)
18842453 The presence of DRE is not related to abnormal EEG findings or a particular MECP2 mutant genotype.
18842453 Observational study of gene-disease association. (HuGE Navigator)
18820302 A review of the functions and genomic structures of MECP2.
18773074 transgenic Drosophila overexpressing human MeCP2. MeCP2 associates with chromatin and is phosphorylated at serine 423 in Drosophila, as is found in mammals.
18688080 None of the variants found in 3'- untranslated regions of MECP2 gene is located in putative protein-binding sites nor predicted to have a pathogenic role in Rett syndrome and mental retardation patients.
18688080 Observational study of gene-disease association. (HuGE Navigator)
18666890 Silencing of MBD1 and MeCP2 in prostate-cancer-derived PC3 cells produces differential gene expression profiles and cellular phenotypes
18652533 Multiple de novo mutations in the MECP2 gene are reported.
18535484 Observational study of gene-disease association. (HuGE Navigator)
18512755 Rett syndrome Patients with truncating mutations present a higher rate & more severe dystonia & rigid-akinetic syndrome, when compared with groups with a similar time of disease evolution.
18512755 Observational study of gene-disease association. (HuGE Navigator)
18499664 frequent Rett syndrome-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties
18477000 Case report and literature review are compared to produce salient criteria for clinical diagnosis of male congenital encephalopathy caused by MECP2 null mutations
18434641 Observational study of gene-disease association. (HuGE Navigator)
18385275 Results suggest a two-step mechanism in which part of Xq28 is first inserted near the MECP2 locus, followed by breakage-induced replication with strand invasion of the normal sister chromatid.
18337588 Specific MECP2 mutations contribute significantly to the clinical variation in typical Rett syndrome.
18332345 Observational study of gene-disease association. (HuGE Navigator)
18320046 variants within MECP2 confer risk of systemic lupus erythematosus
18320046 Observational study of gene-disease association. (HuGE Navigator)
18310203 Observational study of gene-disease association. (HuGE Navigator)
18295506 As a result of MeCP2 mutation there is a transient delay in terminal differentiation during synaptogenesis, as well as a chronic disruption of function that is overcome through compensatory responses that restore homeostasis.
18190595 This result suggests that mechanisms other than X chromosome inactivation may contribute to the phenotypic heterogeneity associated with MECP2 mutations.
18184939 Observational study of gene-disease association. (HuGE Navigator)
18184939 X-inactivation and MECP2 genotype didn't explain the phenotypic manifestations of Rett syndrome. Other genomic factors have to be considered to explain the phenotypic differences
18174559 Observational study of genotype prevalence. (HuGE Navigator)
18174548 The International Rett Syndrome Association (IRSA) North American database is the first comprehensive compilation of information in the United States and Canada on individuals with Rett syndrome or another diagnosis in association with MECP2 mutations.
18075316 MeCP2 binds to and is involved in repression of Rest and CoRest promoters despite their unmethylated state. MeCP2 depletion is associated with a change in the histone modification profile to a more active conformation
18042715 These results indicate that the primary function of MeCP2 is not the silencing of methylated promoters.
17986102 Large MECP2 rearrangements cause Rett syndrome in a significant number of girls without 'classic' mutations in this gene.
17968969 MECP2 large deletions are a common cause of classic Rett, and MLPA analysis is mandatory in MECP2-negative patients, especially in those more severely affected
17965612 alterations in the affinity of MeCP2 for chromatin might contribute to the pathological effects of mutations causing Rett Syndrome.
17965611 MeCP2 and parental imprinting has unfolded with interesting twists, revealing new insights on the function of MeCP2 in Rett syndrome.[REVIEW]
17881312 Homozygosity for MECP2 gene is associated with Rett syndrome
17712354 This study reaffirms the view that large MECP2 deletions are an important cause of both classical and atypical Rett syndrome.
17701895 MeCP2 plays no role in the maintenance of genomic imprinting and add PEG3 and PEG10 to the list of studied imprinted genes.
17684768 Females with Rhett syndrome with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age
17660293 nucleosomal linker DNA is a crucial binding partner of MeCP2 and different RTT-causing mutations of MeCP2 are correspondingly defective in different aspects of the interactions that alter chromatin architecture
17634428 These data show, for the first time, the involvement of methyl-CpG binding domain proteins in the regulation of the MAGE-A genes.
17531413 The prevalence of sleep problems was highest in cases with a large deletion of the MECP2 gene and in those with the p.R294X or p.R306C mutations. Sleep problems are common in Rett syndrome and there is some variation with age and mutation type.
17486179 percent promoter methylation of MECP2 significantly correlated with reduced MeCP2 protein expression. These results suggest that both genetic and epigenetic defects lead to reduced MeCP2 expression and may be important in the complex etiology of autism
17440498 Mutation p.Arg270fs (c.808delC) was identified in both a girl with classical RTT and her brother who had the severe neurological phenotype usually described in males.
17427193 Observational study of gene-disease association. (HuGE Navigator)
17427193 These results suggest that MECP2 can play a role in autism etiology, although very rarely, supporting the notion that MECP2 mutations underlie several neurodevelopmental disorders.
17420401 Observational study of gene-disease association. (HuGE Navigator)
17420401 Although symmetric midline hand stereotypies were not specific to patients with an MECP2 mutation, some of the other stereotypies seemed to be more characteristic of this group.
17413451 Observational study of genotype prevalence. (HuGE Navigator)
17413451 No variaton observed in gene mutational analysis in autistic boys showing regression of autism.
17407838 several patients with classic and atypical Rett's sysndrome with no mutation findings had significantly lower MECP2 expression. levels
17387578 Observational study of genotype prevalence. (HuGE Navigator)
17387578 Our results confirm the high frequency of MECP2 mutations in females with RTT and provide data concerning the mutation heterogeneity in the Slavic population.
17383248 Observational study of genotype prevalence. (HuGE Navigator)
17383248 MECP2 mutations in large groups of males and females affected with mental retardation without FRAXA expansion
17339270 These results suggest that MeCP2 acts as a chromatin organizer for optimal expression of both alleles of GABRB3 in neurons.
17309881 FXYD1 is is identified as a MeCP2 target gene whose de-repression may directly contribute to Rett syndrome neuronal pathogenesis
17296936 Disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation.
17236109 Male Rett phenotypes in T158M and R294X MeCP2-mutations.
17172942 Increased MECP2 gene copy number is mainly responsible for the neurodevelopmental delays in males.
17171659 Observational study of gene-disease association. (HuGE Navigator)
17171659 polymorphisms within exon 1 of MECP2 occur in females with mental retardation.
17142618 Significantly lower MECP2 expression levels were found in several patients with classic and atypical Rett's syndrome with no mutation findings.
17101771 MeCP2 binding to DNA and chromatin involves a number of different molecular interactions, some of which result in compaction and oligomerization.
17101000 A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.
17089071 Observational study of genotype prevalence. (HuGE Navigator)
17089071 Identification of 45 different MECP2 mutations in 102 Rett syndrome patients.
17084570 Observational study of genotype prevalence. (HuGE Navigator)
17084570 study concludes that in mentally retarded Brazilian males, non-pathogenic variants in the MECP2 gene are more common than actual pathogenic mutations, and therefore alterations in this gene have a weak relationship with mental retardation in males
17026625 Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome.
16966553 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.
16932552 Rett syndrome is caused by heterozygosity for mutations in the X-linked gene MECP2, which encodes methyl-CpG binding protein 2.
16905679 A statistically significant increase in clinical severity of Rett syndrome with increase in active mutated allele shown for both the p.R168X and p.T158M mutations.
16879196 Observational study of genotype prevalence. (HuGE Navigator)
16832102 This study report four de novo occurrences MECP2 mutations in boy : three pathogenic and one potentially pathogenic.
16780651 The results of this study indicated that c.397C > T (R133C), c.473C > T (T158M) and c.916C > T (R306C) were hot spot mutations in MECP2 gene of patients with atypical Rett Syndrome.
16763620 MeCP2 and DNA methylation exert epigenetic control over hepatic wound healing and fibrogenesis.
16708070 Rett syndrome is caused by mutations that affect the methyl-CpG-binding protein MeCP2 provided a major breakthrough in understanding this severe neurodevelopmental disorder.
16682435 All 4 inhibitors of differentiation (ID) proteins were significantly increased in Mecp2-deficient Rett syndrome brain; ID genes are ideal primary targets for MeCP2 regulation of neuronal maturation that may explain molecular pathogenesis of Rett syndrome
16681803 Review article uses as an example of epigenetic modfications MeCP2-regulated chromatin remodeling in Rett syndrome.
16672765 Observational study of genotype prevalence. (HuGE Navigator)
16672765 Mutations were detected in the MECP2 gene in approximately 60.5% of patients (26 cases/43 cases).
16647997 the great majority of French patients with Rett syndrome have a MECP2 mutation
16613900 analysis of enhancer and silencer elements that are likely to be responsible for the tissue-specific, developmental stage-specific or splice-variant-specific control of MeCP2 protein expression
16473305 These data demonstrate the high allelic heterogeneity of RTT in France and suggest that routine mutation screening in MECP2 should include quantitative analysis of the MECP2 gene.
16399702 Study of transgenic mice expressing a truncated allele of Mecp2 demonstrates a requirement for MeCP2 in learning and memory and suggest that functional and ultrastructural synaptic dysfunction is an early event in the pathogenesis of Rett syndrome.
16389588 Results showed there were some differences among the behavior patterns with R133C, R306C, R294X, R294X and R255X mutations.
16331274 Interference against MECP2 expression in normal prostate and prostate cancer cells results in growth arrest
16199017 he behavioral deficits observed are the result of loss of MeCP2 function in postnatal forebrain and not the result of generalized global deficits.
16183801 Observational study of genotype prevalence. (HuGE Navigator)
16182497 Data from the literature and previous research suggest that MeCP2 is expressed during critical periods of brain development at several sites and in different neurons.
16182491 Most cases of Rett syndrome (RTT) are associated with mutations. On the basis of molecular structure, ontogeny, and subcellular and regional distribution, MeCP2 appears to be a link between synaptic activity and neuronal transcription.
16080119 Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
16077736 Observational study of gene-disease association. (HuGE Navigator)
16077736 MECP2 mutation screening of Rett syndrome. Cases with early onset of regression & seizures, those with clinical features that might indicate alternative aetiologies, were less likely to have mutations.
16077729 Observational study of gene-disease association. (HuGE Navigator)
16077729 Our observation of a reduced survival associated with the p.R270X MECP2 mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome
15959553 MeCP2 has roles in human disease beyond its chromatin connections [review]
15954098 DLX5 is a target for MeCP2, linking genomic imprinting and Rett syndrome [review]
15917271 demonstrate that MeCP2 and CDKL5 interact both in vivo and in vitro and that CDKL5 is indeed a kinase, which is able to phosphorylate itself and to mediate MeCP2 phosphorylation
15814190 Observational study of genotype prevalence. (HuGE Navigator)
15814190 The A140V mutation in the MECP2 gene is a etiological factor among Brazilian mentally retarded males.
15809268 MeCP2 has a role in the developing brain; certain genes which are normally silenced by MeCP2 are misexpressed in Rett Syndrome [review]
15757975 MeCP2 deficiency causes epigenetic aberrations at the PWS imprinting center
15712379 45 Rett syndrome patients who had tested negative for mutations in coding regions of MECP2 were found to have large deletions. Large deletions in MECP2 cause classic Rett syndrome.
15689352 MeCP2 is involved in chromosome organization in the developing brain and provide a potential mechanistic association between several related neurodevelopmental disorders.
15675358 Observational study of gene-disease association. (HuGE Navigator)
15635068 Rett syndrome is caused by mutations in MECP2 in the majority of cases. (review)
15578581 Observational study of genotype prevalence. (HuGE Navigator)
15578581 MECP2 mutations do not represent a major cause of nonspecific mental retardation.
15557528 An 806delG mutation of MECP2 was found in a boy with severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs.
15526354 The average mRNA level of Dnmt1 gene from cancerous tissue was higher and that of mbd2 gene from cancerous tissue was lower than that from non-cancerous tissue
15367913 Observational study of gene-disease association. (HuGE Navigator)
15211631 Observational study of gene-disease association. (HuGE Navigator)
15211631 higher frequency of missense and 3'-UTR variants was found in autism
15057977 Phenotypic manifestations of mutations in MECP2 were evaluated in classical and atypical Rett syndrome.
15034579 description of a previously unknown MeCP2 isoform
14981718 We screened 24 of the sporadic AS angelman syndrome) cases without detectable UBE3A mutations for mutations of MECP2, but found none.
14974082 Fifteen large deletions found in a deletion prone region in MECP2 in 130 female Rett syndrome patients.
14649549 The regulation of MeCP2 abundance is related to human brain development, being expressed in neurons when they appear mature. In the Rett syndrome brain, fewer neurons express MeCP2 than in the normal brain.
14649548 Our data provide compelling evidence for the existence of a novel MeCP2 molecular form, most likely the result of post-translational modification. This novel form of MeCP2 is present in both brain and lymphoid cells.
14647463 MeCP2 acts as a corepressor of PU.1 probably due to facilitating complex formation with mSin3A and HDACs.
14623222 This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.
14612906 Strong association seen between estrogen receptor (ER) status and MeCP2 mRNA expression; MeCP2, regulated by ER, may play key role in breast tissue differentiation
14598336 MECP2 gene mutations are correlated with non-syndromic X-linked mental retardation phenotypes.
14560307 Observational study of genotype prevalence. (HuGE Navigator)
14529314 Observational study of gene-disease association. (HuGE Navigator)
14529314 MECP2 mutations in mentally retarded males are far more rare than initially thought
12746406 genotype-phenotype relationship of the R133C mutation
12707946 conclude that MECP2 mutations (missense or late truncating) can be found in girls with an IQ close to 45 and a history of Preserved Speech Variant of Rett syndrome. MECP2 mutations are not found in patients in which autism remains stable over the years.
12646234 Results show that methyl-CpG binding domain protein 1 (MBD1) is expressed in tumor cells, but methyl-CpG binding domain protein 2 (MBD2) and methyl CpG binding protein 2 (MeCP2) are not.
12640384 Observational study of genetic testing. (HuGE Navigator)
12555243 Observational study of genotype prevalence. (HuGE Navigator)
12545250 Elevated expression of MECP2 is acquired during postnatal brain development and is correlated with alternative polyadenylation.
12535940 Methyl-CpG-binding protein 2 but not Sin3 is found in both nuclear and postsynaptic compartments of neurons in normal brain.
12449561 MECP2 gene mutation is implicated in Rett's syndrome.
12442230 Review--Rett syndrome and MeCP2: linking epigenetics and neuronal function
12180070 Observational study of genotype prevalence. (HuGE Navigator)
12180070 High degree of genetic heterogeneity in Rett patients
12170461 Mutations in MECP2 gene were found over 50% of patients with Rett syndrome in China.
12161600 MECP2 gene nucleotide changes affect pathology in males: at c.1282 G>A (G428S) severe encephalopathy, at C.1030 C>T (R344W) a Rett-like phenotype, at c.590 C>T (T197M) (congenital encephalopathy, microcephaly, and severe developmental delay).
12111644 Observational study of genotype prevalence. (HuGE Navigator)
12111644 low frequency of mutations in mentally retarded males
12111643 the spectrum of MECP2 mutations in Chinese patients with Rett syndrome
12107440 MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Results do not support an essential role for either MeCP2 or HDAC in the silencing of several imprinted genes.
12081725 screening of MECP2 gene mutations in Swedish Rett Syndrome clusters
12075485 Observational study of gene-disease association. (HuGE Navigator)
12030010 Observational study of genotype prevalence. (HuGE Navigator)
11955928 MECP2 gene mutations in six Chinese females with Rett syndrome. reduction in N-acetylaspartate/total creatine ratio may not be related to the MECP2 mutation.
11896461 Some mutations found in mentally disabled boys are also found in normal relatives.
11896459 a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.
11885030 mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
11836365 MeCP2 mutations have been functionally characterized in male patients with X linked mental retardation.
11809720 MeCP2 may become abundant once a neuron has reached a certain degree of maturity, and this may explain some aspects of the RTT phenotype.
11805248 A neurologic disorder associated with A140V MECP2 mutation affects males more severely than females of the same family.
11768391 somatic mosaicism for a MECP2 mutation in females with Rett syndrome
11691937 represses LINE-1 expression and retrotransposition but not Alu transcription
11524741 Mutations in MECP2 were identified from most of the patients with classical and variant RTT (25 of 27 cases).
11524737 Reported five novel frameshift mutations (named 345delC, 895del202, 989ins18del8, 996insAG and 1124del53) in exon 3 and 4 of the MECP2 gene.
11462237 mutation analysis in Italian Rett patients
11432961 mutation and role in Rett syndrome
11055898 Observational study of genetic testing. (HuGE Navigator)
8563762 MECP2 is dispensible in stem cells, but is essential for embryonic development.

AA Sequence

MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGS      1 - 70
APAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIA     71 - 140
YFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVK    141 - 210
RVLEKSPGKLLVKMPFQTSPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAA    211 - 280
AEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESS    281 - 350
PKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPR    351 - 420
GGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTPVTERVS        421 - 486
//

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26944080 2016 Layered hydrogels accelerate iPSC-derived neuronal maturation and reveal migration defects caused by MeCP2 dysfunction.
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26782401 2015 Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han.
26648260 2016 Lentivirus?mediated knockdown of MeCP2 inhibits the growth of colorectal cancer cells in vitro.
26546296 2016 MECP2 Is a Frequently Amplified Oncogene with a Novel Epigenetic Mechanism That Mimics the Role of Activated RAS in Malignancy.
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26420639 2016 Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
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26312503 2015 NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
26305530 2015 Inhibition of DNA Methylation and Methyl-CpG-Binding Protein 2 Suppresses RPE Transdifferentiation: Relevance to Proliferative Vitreoretinopathy.
26245896 2015 Karyopherin ? 3 and karyopherin ? 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.
26237041 2015 MECP2 disorders: from the clinic to mice and back.
26235378 2015 Specificity of antinuclear autoantibodies recognizing the dense fine speckled nuclear pattern: Preferential targeting of DFS70/LEDGFp75 over its interacting partner MeCP2.
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26156810 2015 Methyl-CpG-Binding Protein 2 (MECP2) Polymorphism in Iranian Patients with Systemic Lupus Erythematosus.
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26103880 2015 miR-370 and miR-373 regulate the pathogenesis of osteoarthritis by modulating one-carbon metabolism via SHMT-2 and MECP-2, respectively.
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26031318 2015 MeCP2 in the enteric nervous system.
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25827305 2015 Prognostic values of 5-hmC, 5-mC and TET2 in epithelial ovarian cancer.
25798578 2015 SINE transcription by RNA polymerase III is suppressed by histone methylation but not by DNA methylation.
25762136 2015 Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.
25721700 2015 Infectious and immunologic phenotype of MECP2 duplication syndrome.
25705847 2015 Genome-Wide DNA Methylation Analysis in Melanoma Reveals the Importance of CpG Methylation in MITF Regulation.
25656446 2015 Changes in the methylation status of DAT, SERT, and MeCP2 gene promoters in the blood cell in families exposed to alcohol during the periconceptional period.
25644311 2015 MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells.
25617893 2015 Detrusor induction of miR-132/212 following bladder outlet obstruction: association with MeCP2 repression and cell viability.
25613065 2015 Preliminary screening of differentially expressed genes involved in methyl-CpG-binding protein 2 gene-mediated proliferation in human osteosarcoma cells.
25609649 2015 Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes.
25574748 2014 Methyl-CpG binding protein 2, receptors of innate immunity and receptor for advanced glycation end-products in human viral meningoencephalitis.
25458699 2015 Variants in IRAK1-MECP2 region confer susceptibility to autoimmune thyroid diseases.
25428820 2015 Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.
25355316 2014 RING finger protein 4 (RNF4) derepresses gene expression from DNA methylation.
25290267 2014 Elevated 5-hydroxymethylcytosine in the Engrailed-2 (EN-2) promoter is associated with increased gene expression and decreased MeCP2 binding in autism cerebellum.
25227661 2014 Epigenetic silencing of methyl-CpG-binding protein 2 gene affects proliferation, invasion, migration, and apoptosis of human osteosarcoma cells.
25124696 2014 Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale.
25076025 2014 Regulation mechanism and research progress of MeCP2 in Rett syndrome.
25037250 2014 De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
25008110 2014 MeCP2 regulates activity-dependent transcriptional responses in olfactory sensory neurons.
24970834 2014 Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.
24914495 2014 Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.
24777420 2014 Cellular origins of auditory event-related potential deficits in Rett syndrome.
24776956 2015 Induced gamma oscillations differentiate familiar and novel voices in children with MECP2 duplication and Rett syndromes.
24769161 2014 Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome.
24750837 2014 [Clinical features and MECP2 mutations in children with Rett syndrome].
24738188 2014 [Clinical features in Rett syndrome: MECP2-, CDKL5- and FOXG1- related disorders].
24709033 Analysis of two autoimmunity genes, IRAK1 and MECP2, in giant cell arteritis.
24671997 2014 MeCP2 phosphorylation limits psychostimulant-induced behavioral and neuronal plasticity.
24657916 2014 An increase in MECP2 dosage impairs neural tube formation.
24657437 2014 MicroRNA-432 contributes to dopamine cocktail and retinoic acid induced differentiation of human neuroblastoma cells by targeting NESTIN and RCOR1 genes.
24648499 2014 Mild expression differences of MECP2 influencing aggressive social behavior.
24626160 2014 Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X.
24615633 2014 Rett syndrome and MeCP2.
24594195 2014 Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action.
24531693 2014 Chromatin composition alterations and the critical role of MeCP2 for epigenetic silencing of progesterone receptor-B gene in endometrial cancers.
24528171 2014 Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome.
24478188 2014 Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.
24458799 2014 MECP2 duplication: possible cause of severe phenotype in females.
24448211 2014 Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.
24419315 2014 Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons.
24399845 2014 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
24328834 2014 Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
24300809 2013 [Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations].
24291980 2013 [Epigenome: what we learned from Rett syndrome, a neurological disease caused by mutation of a methyl-CpG binding protein].
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24199952 2013 MECP2 promotes cell proliferation by activating ERK1/2 and inhibiting p38 activity in human hepatocellular carcinoma HEPG2 cells.
24150225 2013 Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.
24129406 2014 Transcriptional regulation in pluripotent stem cells by methyl CpG-binding protein 2 (MeCP2).
24129071 2014 De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.
24094964 2013 Down-regulation of MeCP2 in Hirschsprung's disease.
24094325 2013 Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons.
24043878 2014 Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.
23948639 2013 Loss of MeCP2 function is associated with distinct gene expression changes in the striatum.
23938295 2013 Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition.
23938294 2013 MeCP2: making sense of missense in Rett syndrome.
23921973 2014 Brief report: MECP2 mutations in people without Rett syndrome.
23866855 2013 A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.
23857988 2013 Association of MeCP2 (rs2075596, rs2239464) genetic polymorphisms with systemic lupus erythematosus: a meta-analysis.
23791832 2013 Ube3a/E6AP is involved in a subset of MeCP2 functions.
23770565 2013 Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor.
23750231 2013 MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.
23696494 2013 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
23659895 2013 Neuronal morphology in MeCP2 mouse models is intrinsically variable and depends on age, cell type, and Mecp2 mutation.
23633923 2013 Epigenetic silencing of the proapoptotic gene BIM in anaplastic large cell lymphoma through an MeCP2/SIN3a deacetylating complex.
23624957 2013 Holocarboxylase synthetase synergizes with methyl CpG binding protein 2 and DNA methyltransferase 1 in the transcriptional repression of long-terminal repeats.
23619607 2013 The role of methyl-CpG binding protein 2 in liver fibrosis.
23565077 2013 Decreased Hering-Breuer input-output entrainment in a mouse model of Rett syndrome.
23514909 2013 Relationship between methyl CpG binding protein 2 and JC viral proteins.
23493374 2013 Creb1-Mecp2-(m)CpG complex transactivates postnatal murine neuronal glucose transporter isoform 3 expression.
23452848 2013 An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.
23449173 2013 Mechanisms and therapeutic challenges in autism spectrum disorders: insights from Rett syndrome.
23446634 2013 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
23444193 2013 New insight on the Xq28 association with systemic sclerosis.
23431031 2013 Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p.
23428850 2013 Functional characterization of the MECP2/IRAK1 lupus risk haplotype in human T cells and a human MECP2 transgenic mouse.
23400946 2013 Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.
23349465 2013 Biochemical analysis of histone deacetylase-independent transcriptional repression by MeCP2.
23262346 2013 Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
23260135 2012 MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system.
23238081 2013 MeCP2 deficiency is associated with impaired microtubule stability.
23233309 2013 Association of an activity-enhancing variant of IRAK1 and an MECP2-IRAK1 haplotype with increased susceptibility to rheumatoid arthritis.
23226951 2012 The relationship of Rett syndrome and MECP2 disorders to autism.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23169761 2013 The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.
23135915 2013 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.
23123205 2013 Relationship between Mecp2 and NF?b signaling during neural differentiation of P19 cells.
23055267 2012 The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
23015442 2012 A critical and cell-autonomous role for MeCP2 in synaptic scaling up.
22909152 2012 A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.
22904263 2013 Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups.
22883432 2012 A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
22877836 2013 MECP2 duplication syndrome in both genders.
22848609 2012 Elevated IKK? accelerates the differentiation of human neuronal progenitor cells and induces MeCP2-dependent BDNF expression.
22783988 2012 Knock-down of methyl CpG-binding protein 2 (MeCP2) causes alterations in cell proliferation and nuclear lamins expression in mammalian cells.
22781840 2013 The impact of MeCP2 loss- or gain-of-function on synaptic plasticity.
22707285 2012 Up-regulated methyl CpG binding protein-2 in intractable temporal lobe epilepsy patients and a rat model.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22615490 2012 Phosphorylation of distinct sites in MeCP2 modifies cofactor associations and the dynamics of transcriptional regulation.
22578097 2012 Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.
22561697 2012 Novel double deletions in the MECP2 gene in Tunisian Rett patient.
22532851 2012 Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome.
22528406 2012 The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
22525432 2012 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.
22497713 2012 Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.
22476991 2012 Genetic and epileptic features in Rett syndrome.
22474603 2012 Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.
22473088 2012 The phenotype associated with a large deletion on MECP2.
22455563 2012 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.
22427975 2012 Cell-autonomous alterations in dendritic arbor morphology and connectivity induced by overexpression of MeCP2 in Xenopus central neurons in vivo.
22378884 2012 A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission.
22363746 2012 Drosophila as a model for MECP2 gain of function in neurons.
22357617 2012 Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome.
22348320 2012 Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant.
22331013 2012 Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome.
22277191 2012 Molecular diagnostic dilemmas in Rett syndrome.
22275515 2012 The stress oncoprotein LEDGF/p75 interacts with the methyl CpG binding protein MeCP2 and influences its transcriptional activity.
22262897 2012 The Rett syndrome protein MeCP2 regulates synaptic scaling.
22213695 2012 Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
22182064 2012 What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
22129561 2012 Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
22123427 2012 Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.
22119903 2011 Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses.
22113206 2012 Subclinical myocardial dysfunction in Rett syndrome.
22030772 2011 [Mutation analysis of methyl CpG-binding protein 2 gene(exon 3) in Hirschsprung disease and anorectal malformations].
22009741 2011 The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice.
21982064 2012 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
21954873 2012 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.
21940684 2012 Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients.
21888765 2011 Oxidative stress in Rett syndrome: natural history, genotype, and variants.
21878110 2011 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.
21871116 2011 De novo deletion in MECP2 in a monozygotic twin pair: a case report.
21865261 2011 Histone modifications and methyl-CpG-binding domain protein levels at the TNFSF7 (CD70) promoter in SLE CD4+ T cells.
21831886 2011 MeCP2 Rett mutations affect large scale chromatin organization.
21825235 2011 Rett syndrome: exploring the autism link.
21824415 2011 The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome.
21821449 2012 MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.
21782149 2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
21731748 2011 Co-localization of the oncogenic transcription factor MYCN and the DNA methyl binding protein MeCP2 at genomic sites in neuroblastoma.
21654506 Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial.
21636779 2011 Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period.
21632916 2011 Complexities of Rett syndrome and MeCP2.
21531908 2011 Analysis of MECP2 gene copy number in boys with autism.
21530498 2011 F?-neuroprostanes mediate neurological severity in Rett syndrome.
21467044 2011 DNA binding restricts the intrinsic conformational flexibility of methyl CpG binding protein 2 (MeCP2).
21435439 2011 Essential role of MeCP2 in the regulation of myofibroblast differentiation during pulmonary fibrosis.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21372149 2011 Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.
21326285 2011 De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
21316312 2011 Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome.
21300488 2012 Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.
21119712 2011 MECP2 duplications in six patients with complex sex chromosome rearrangements.
21085180 2010 L1 retrotransposition in neurons is modulated by MeCP2.
20956852 2010 The role of calcium-dependent gene expression in autism spectrum disorders: lessons from MeCP2, Ube3a and beyond.
20881011 2011 Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients.
20728410 2010 Epilepsy in Rett syndrome: clinical and genetic features.
20697302 2010 A novel transcriptional regulator of myelin gene expression: implications for neurodevelopmental disorders.
20682201 2010 Ocular MECP2 protein expression in patients with and without Rett syndrome.
20661168 2010 Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.
20631224 2010 Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20504995 2010 The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
20497345 2011 High expression of MeCP2 in JC virus-infected cells of progressive multifocal leukoencephalopathy brains.
20491871 2010 Epilepsy in Rett syndrome---the experience of a National Rett Center.
20479760 2011 Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
20425824 2010 Linking MECP2 and pain sensitivity: the example of Rett syndrome.
20425814 2010 The MECP2 duplication syndrome.
20425298 2010 The role of MeCP2 in brain development and neurodevelopmental disorders.
20420693 2010 Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.
20405910 2010 Unique physical properties and interactions of the domains of methylated DNA binding protein 2.
20400852 Alternative polyadenylation of MeCP2: Influence of cis-acting elements and trans-acting factors.
20376788 2010 [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].
20345957 2010 Level of purposeful hand function as a marker of clinical severity in Rett syndrome.
20215141 2010 Genetic association between methyl-CpG binding protein 2 (MECP2) and primary Sjogren's syndrome.
20207612 2010 Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.
20116947 2011 Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
20098342 2010 Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
20093853 2010 MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20065105 2010 Partial silencing of methyl cytosine protein binding 2 (MECP2) in mesenchymal stem cells induces senescence with an increase in damaged DNA.
20035514 2009 Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
20032810 2010 Profiling scoliosis in Rett syndrome.
20032179 2010 The latency-associated nuclear antigen interacts with MeCP2 and nucleosomes through separate domains.
20031356 2010 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
20019788 2009 [Research progress of Rett syndrome causing gene MECP2--the structure, function and modulation of MECP2].
20007372 2009 Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.
19914908 2010 Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19900619 2009 Deciphering Rett syndrome with mouse genetics, epigenomics, and human neurons.
19898528 2009 A moment's pause: putative nucleosome-based influences on MeCP2 regulation.
19844254 2010 Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
19820693 2009 Methyl-CpG-binding protein 2 is phosphorylated by homeodomain-interacting protein kinase 2 and contributes to apoptosis.
19806472 2010 High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.
19736351 2009 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
19724012 2009 MECP2 mutation in one of Rett's original patients.
19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.
19717458 2009 A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19664534 2009 Neurologic aspects of MECP2 gene duplication in male patients.
19652677 2009 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19592282 2010 Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?
19573459 2009 [Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].
19562714 2009 Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
19559301 2009 A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.
19552836 2009 [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].
19495527 2009 MECP2 mutations in Malaysian Rett syndrome patients.
19464849 2009 Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes.
19442733 2009 Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19386901 2009 Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions.
19367720 2008 Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment.
19365833 2009 Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.
19333917 2009 Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.
19331822 2009 Interaction between the inner nuclear membrane lamin B receptor and the heterochromatic methyl binding protein, MeCP2.
19324899 2009 Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
19309283 2009 A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.
19309269 2009 A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations.
19194883 2009 Brain metabolism in Rett syndrome: age, clinical, and genotype correlations.
19190538 2009 Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics.
19189931 2009 Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation.
19174478 2009 MeCP2 involvement in the regulation of neuronal alpha-tubulin production.
19168818 2009 Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
19165708 2008 Gross motor profile in rett syndrome as determined by video analysis.
19133691 2009 Rett syndrome and long-term disorder profile.
19125863 2008 Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.
19058789 2009 A common variant in DRD3 receptor is associated with autism spectrum disorder.
19058783 2009 Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission.
19057379 2009 Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.
19034540 2009 The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.
19018795 2009 The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.
19000991 2009 Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.
18989701 2009 A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
18985075 2009 Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
18842453 2008 Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.
18820302 2008 MECP2 genomic structure and function: insights from ENCODE.
18773074 2008 Genetic modifiers of MeCP2 function in Drosophila.
18688080 2008 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.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18666890 2008 Silencing of MBD1 and MeCP2 in prostate-cancer-derived PC3 cells produces differential gene expression profiles and cellular phenotypes.
18652533 2008 Multiple de novo mutations in the MECP2 gene.
18535484 2008 Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome.
18512755 2008 Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.
18499664 2008 Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions.
18477000 2008 Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
18434641 2008 The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome.
18385275 2008 Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
18332345 2008 Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
18320046 2008 Common variants within MECP2 confer risk of systemic lupus erythematosus.
18310203 2008 Early determinants of fractures in Rett syndrome.
18295506 2008 MeCP2 mutation causes distinguishable phases of acute and chronic defects in synaptogenesis and maintenance, respectively.
18190595 2008 Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.
18184939 2008 X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
18174559 2007 Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.
18174548 2007 Rett syndrome: North American database.
18075316 MeCP2 deficiency in the brain decreases BDNF levels by REST/CoREST-mediated repression and increases TRKB production.
18042715 2007 Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17986102 2007 MECP2 mutations in Serbian Rett syndrome patients.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17968969 2007 MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
17965612 2007 Spatio-temporal dynamics and localization of MeCP2 and pathological mutants in living cells.
17965611 The Odyssey of MeCP2 and parental imprinting.
17881312 Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
17712354 2007 Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
17701895 2007 DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.
17684768 2008 The diagnosis of autism in a female: could it be Rett syndrome?
17660293 2007 MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndrome.
17634428 2007 Methyl-CpG binding domain proteins and their involvement in the regulation of the MAGE-A1, MAGE-A2, MAGE-A3, and MAGE-A12 gene promoters.
17567994 2007 Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions.
17531413 2007 Sleep problems in Rett syndrome.
17486180 The odyssey of MeCP2 and parental imprinting.
17486179 Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation.
17440498 2007 An explanation for another familial case of Rett syndrome: maternal germline mosaicism.
17427193 2007 MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.
17420401 2007 Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
17413451 2007 MeCP2 gene mutation analysis in autistic boys with developmental regression.
17407838 2007 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.
17387578 2007 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
17383248 Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
17351020 2007 MECP2 mutations in males.
17339270 2007 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
17309881 2007 FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.
17296936 2007 Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.
17172942 2006 Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
17171659 2007 Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
17142618 2006 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.
17101771 2007 Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin.
17101000 2006 A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.
17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
17088400 2006 Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
17084570 2007 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17026625 2006 Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome.
16966553 2006 A novel familial MECP2 mutation in a young boy: clinical and molecular findings.
16932552 2006 Mechanisms of disease: neurogenetics of MeCP2 deficiency.
16905679 2007 Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.
16879196 2006 Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.
16832102 2006 Early progressive encephalopathy in boys and MECP2 mutations.
16780651 2006 [MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].
16763620 2007 Regulation of myofibroblast transdifferentiation by DNA methylation and MeCP2: implications for wound healing and fibrogenesis.
16708070 2006 Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.
16682435 2006 Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome.
16681803 2006 Chromatin remodeling and neuronal function: exciting links.
16672765 2006 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.
16647997 2006 The incidence of Rett syndrome in France.
16613900 2006 Identification of cis-regulatory elements for MECP2 expression.
16473305 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
16399702 2006 Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.
16389588 2006 The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.
16381901 2006 The LIFEdb database in 2006.
16331274 2006 The methyl-CpG-binding protein MECP2 is required for prostate cancer cell growth.
16251272 2005 Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.
16199017 2006 Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice.
16183801 2006 Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
16182497 2005 Can we relate MeCP2 deficiency to the structural and chemical abnormalities in the Rett brain?
16182491 2005 MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution.
16080119 2005 Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
16077736 2005 Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
16077729 2005 p.R270X MECP2 mutation and mortality in Rett syndrome.
15959553 2005 MeCP2: the chromatin connection and beyond.
15954098 2005 Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome.
15917271 2005 CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
15857422 2005 Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.
15814190 2005 The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.
15809268 2005 MeCP2 in neurons: closing in on the causes of Rett syndrome.
15772651 2005 The DNA sequence of the human X chromosome.
15757975 2005 MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.
15712379 2005 Large genomic rearrangements in MECP2.
15696166 2005 Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.
15689435 2005 Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
15689352 2005 Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples.
15675358 2005 [Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities].
15635068 2005 Rett syndrome: clinical review and genetic update.
15578581 2005 MECP2 mutation analysis in patients with mental retardation.
15557528 2004 Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.
15526354 2004 Expression of Dnmt1, demethylase, MeCP2 and methylation of tumor-related genes in human gastric cancer.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15367913 2005 Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
15351775 2004 Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15211631 2004 MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.
15057977 2004 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
15034579 2004 A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
15034150 2004 The major form of MeCP2 has a novel N-terminus generated by alternative splicing.
14981718 2004 Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.
14974082 2004 Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.
14649549 2003 Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain.
14649548 2003 MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form.
14647463 2003 Direct association between PU.1 and MeCP2 that recruits mSin3A-HDAC complex for PU.1-mediated transcriptional repression.
14623222 2003 Odd MECP2-mutated Rett variant-long-term follow-up profile to age 25.
14612906 2003 MeCP2 and MBD2 expression in human neoplastic and non-neoplastic breast tissue and its association with oestrogen receptor status.
14598336 2003 MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
14560307 2004 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
14529314 2003 MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.
12966523 2003 Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
12966522 2003 Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
12872250 2003 Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
12770674 2003 Identification of MeCP2 mutations in a series of females with autistic disorder.
12746406 2003 Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
12707946 2003 Study of MECP2 gene in Rett syndrome variants and autistic girls.
12646234 2003 Methyl-CpG-DNA binding proteins in human prostate cancer: expression of CXXC sequence containing MBD1 and repression of MBD2 and MeCP2.
12640384 2003 Indication for genetic testing: a checklist for Rett syndrome.
12615169 2003 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
12567420 2003 Mutation analysis of the MECP2 gene in patients with Rett syndrome.
12555243 2003 Absence of MeCP2 mutations in patients from the South Carolina autism project.
12545250 2003 Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation.
12535940 2003 Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions.
12481990 2002 De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12449561 2002 [Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients].
12442230 2002 Rett syndrome and MeCP2: linking epigenetics and neuronal function.
12384770 2002 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.
12325019 2002 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
12210319 2002 Infantile hypotonia as a presentation of Rett syndrome.
12180070 2002 Spectrum of MECP2 mutations in Rett syndrome.
12170461 2002 [Mutational analysis of MECP2 gene in Rett syndrome].
12161600 2002 MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
12111644 2002 Low frequency of MECP2 mutations in mentally retarded males.
12111643 2002 MECP2 gene mutation analysis in Chinese patients with Rett syndrome.
12081725 2002 MECP2 mutations in Swedish Rett syndrome clusters.
12075485 2002 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.
12030010 2002 [Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].
11930274 2002 MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
11913564 2002 Rett syndrome: clinical manifestations in males with MECP2 mutations.
11896461 2002 Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
11885030 2002 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
11809720 2002 Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation.
11807877 2002 In-frame deletion in MECP2 causes mild nonspecific mental retardation.
11805248 2002 A Rett syndrome MECP2 mutation that causes mental retardation in men.
11748221 2002 HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences.
11738883 2001 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
11706982 2001 Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.
11691937 2001 Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription.
11462237 2001 DHPLC analysis of the MECP2 gene in Italian Rett patients.
11441023 2001 The Ski protein family is required for MeCP2-mediated transcriptional repression.
11432961 2001 Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.
11402105 2001 MeCP2 mutations in children with and without the phenotype of Rett syndrome.
11376998 2001 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
11313756 2001 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
11309367 2001 MECP2 is highly mutated in X-linked mental retardation.
11283202 2001 Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.
11269512 2001 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11241840 2001 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
11238684 2001 MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
11214906 2001 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
11076863 2000 DNA cloning using in vitro site-specific recombination.
11055898 2000 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
11022934 2000 Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.
11007980 2000 MECP2 mutation in male patients with non-specific X-linked mental retardation.
10991689 2000 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
10991688 2000 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
10986043 2000 A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
10944854 2000 Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
10854091 2000 Preserved speech variant is allelic of classic Rett syndrome.
10814719 2000 MECP2 mutations account for most cases of typical forms of Rett syndrome.
10814718 2000 Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
10773092 2000 Histone deacetylase-independent transcriptional repression by methyl-CpG-binding protein 2.
10767337 2000 Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
10745042 2000 Mutation screening in Rett syndrome patients.
10723722 2000 Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions.
10577905 1999 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
10518942 1999 The solution structure of the domain from MeCP2 that binds to methylated DNA.
10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
10398236 1999 XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.
10369871 1999 A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression.
10232754 1999 X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.
9710633 1998 Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated.
9620804 1998 Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex.
9620779 1998 Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription.
9546328 1998 Cortical reflex myoclonus in Rett syndrome.
9377804 1997 X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.
9222958 1997 A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.
9171351 1997 FBP WW domains and the Abl SH3 domain bind to a specific class of proline-rich ligands.
9038338 1997 MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin.
8976388 1996 Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization.
8672133 1996 Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.
8563762 1996 The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.
1606614 1992 Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA.