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Methyl-CpG-Binding Protein 2 (0):
Recent article
Methyl-CpG-Binding Protein 2
Abstract
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Abstract
We have shown previously that L1 retrotransposons are capable of mobilization in neuronal progenitor cells from rodents and humans and evidence of massive L1 insertions was observed in adult brain tissues but not in other somatic tissues. In addition, L1 mobility in the adult hippocampus can be infl...
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PMID: 21085180
PDF is available here.
PDF is available here.
Abstract
We show that mice lacking Mecp2 from GABA (γ-aminobutyric acid)-releasing neurons recapitulate numerous Rett syndrome and autistic features, including repetitive behaviours. Loss of MeCP2 from a subset of forebrain GABAergic neurons also recapitulates many features of Rett syndrome. MeCP2-deficient...
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PMID: 21068835
PDF is available here.
PDF is available here.
Brain research (1360) 2010
Abstract
We describe a new experimental system that efficiently elucidates the role of MeCP2 in neural development. MeCP2-null and control ES cells were generated by adenoviral conditional targeting and examined for maintenance of the undifferentiated ES cell state, neurogenesis, and gliogenesis during in vi...
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PMID: 20816763
PDF is available here.
PDF is available here.
Pediatric Research (68)5 2010
Abstract
We also studied five adult females, aged 20-33 y, and one male child, aged 6 y. Lumbar spine bone mineral content (BMC) and bone mineral density (BMD) were correlated with weight, height, BMI, clinical severity, degree of scoliosis, use of anticonvulsants, and ambulatory status. L1-L4 BMD and BMC sh...
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PMID: 20661168
PDF is available here.
PDF is available here.
Abstract
We have identified miRNAs whose expression is altered in cerebella of Mecp2-null mice before and after the onset of severe neurological symptoms. In vivo genome-wide analyses indicate that promoter regions of a significant fraction of dysregulated miRNA transcripts, including a large polycistronic c...
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PMID: 20921386
PDF is available here.
PDF is available here.
Abstract
We show that apnea in RTT mice is characterized by excessive excitatory activity in expiratory cranial and spinal nerves. Augmenting GABA markedly improves the respiratory phenotype. In addition, a serotonin 1a receptor agonist that depresses expiratory neuron activity also reduces apnea, corrects t...
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PMID: 20921395
PDF is available here.
PDF is available here.
Abstract
We studied the expression and function of miRNAs in gastric carcinoma (GC) cells. Initially, we performed microarray analysis using total RNA from 3 human GC cell lines and noncancerous gastric tissue. Among the downregulated miRNAs in GC cells, miR-212 expression was decreased in all 8 GC cell line...
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PMID: 20020497
PDF is available here.
PDF is available here.
Neurogenetics (11)3 2010
Abstract
We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were...
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PMID: 19921286
PDF is available here.
PDF is available here.
Neurogenetics (11)3 2010
Abstract
We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were...
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PMID: 19921286
PDF is available here.
PDF is available here.
Neurogenetics (11)3 2010
Abstract
We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were...
|
PMID: 19921286
PDF is available here.
PDF is available here.
Neurogenetics (11)3 2010
Abstract
We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were...
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PMID: 19921286
PDF is available here.
PDF is available here.
Gastroenterology (138)5 2010
Abstract
Abrogation of the post-transcriptional regulation of c-Myc via methylation of a specific single CpG site in the TTP promoter presents a novel mechanism for the gain of selective resistance to the antiproliferative signaling of TGF-beta1 in HCC.
Copyright 2010 AGA Institute. Published by Elsevier Inc...
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PMID: 20038433
PDF is available here.
PDF is available here.
Neurogenetics (11)2 2010
Abstract
We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly. The screening was negative in all males, but two de novo mutations (c.1248C>G, p.Y416X and c.460_461dupG, p.E154GfsX300) were identified in...
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PMID: 19806373
PDF is available here.
PDF is available here.
Clinical Neurophysiology (121)5 2010
Abstract
EEG electrophysiological patterns and epileptogenic susceptibility differ in Z-RTT according to the level of performance (i.e. HIP or LP). SIGNIFICANCE: These results indicate that HIP and LP Z-RTT should be considered as distinct entities, not only on a clinical basis, but also as it concerns EEG f...
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PMID: 20153689
PDF is available here.
PDF is available here.
Abstract
We have performed a quantitative real-time polymerase chain reaction assay using SYBR Green I chemistry to quantify MECP2 gene copy number in 145 Brazilian males with mental retardation of unknown cause. Three patients carrying MECP2 duplications (approximately 2%) were identified. The analysis of a...
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PMID: 19806472
PDF is available here.
PDF is available here.
Abstract
We suggest that APOE is one of the genetic modulating factors. We analyzed clinical phenotypes of 46 patients with Rett syndrome, with confirmed MECP2 mutation. We discovered that among epsilon4 carriers, some clinical features were more severe, and the developmental regression occurred 4 months ear...
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PMID: 20139413
PDF is available here.
PDF is available here.
Abstract
We report a case of acquired microcephaly in a male infant. Testing for mutations in the MECP2 gene identified a de novo hemizygous c.378-3C>G mutation at a highly conserved 3' splice site, consistent with Rett syndrome. Other distinctive features included periodic hypertonicity, decreased mitochond...
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PMID: 20142466
PDF is available here.
PDF is available here.
Pediatric Research (67)5 2010
Abstract
The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls. Until RTT was considered lethal in males, although now approximately 60 cases have been reported. Males with MECP2 mutations present with a broad spectrum of phenotypes ranging...
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PMID: 20098342
PDF is available here.
PDF is available here.
Abstract
A novel X-chromosome linked phenotype is reported. Three affected males had learning disability in early childhood and subsequently developed progressive ataxia, dystonia, and spasticity with death at ages 9, 14 and 19 years. Two female obligate carriers had learning difficulties with psychosis in o...
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PMID: 19592282
PDF is available here.
PDF is available here.
Journal of Neuroscience (30)15 2010
Abstract
We report a potent neurotoxic activity in the conditioned medium (CM) obtained from Mecp2-null microglia. Hippocampal neurons treated with CM from Mecp2-null microglia showed an abnormal stunted and beaded dendritic morphology, and signs of microtubule disruption and damage of postsynaptic glutamate...
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PMID: 20392956
PDF is available here.
PDF is available here.
Journal of Neuroscience (30)15 2010
Abstract
We analyzed synaptic function in the brainstem nucleus tractus solitarius (nTS), the principal site for integration of primary visceral afferent inputs to central autonomic pathways and a region in which we found markedly reduced levels of BDNF in Mecp2 mutants. Our results demonstrate that the ampl...
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PMID: 20392952
PDF is available here.
PDF is available here.
Abstract
This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions.
Cases were selected from InterRett, an international database and from the population-based...
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PMID: 19914908
PDF is available here.
PDF is available here.
Abstract
We discuss these findings as well as other genetic, pharmacological and environmental interventions that attempt phenotypic rescue in RTT. We believe these studies provide valuable insights into the tractability of RTT and related conditions and are useful pointers for the development of future ther...
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PMID: 20298210
PDF is available here.
PDF is available here.
Pediatric Research (67)4 2010
Abstract
To understand scoliosis, related comorbidities, and phenotype-genotype correlations in individuals with Rett syndrome (RTT), the Rare Disease Clinical Research Network database for RTT was probed. Clinical evaluations included a detailed history and physical examination, comprehensive anthropometric...
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PMID: 20032810
PDF is available here.
PDF is available here.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (27)2 2010
Abstract
Seventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: IVS3+22C >G, IVS3+266C >T and IVS3+683C>T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation...
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PMID: 20376788
PDF is available here.
PDF is available here.
Amino Acids (38)4 2010
Abstract
We focused on two activation-dependent regions of the Bdnf gene physically linked to known transcription sites for exons 1 and 4. Using chromatin immunoprecipitation assays, we determined that N-methyl-D-aspartate (NMDA) receptor activation derepressed promoters 1 and 4-mediated transcription. This...
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PMID: 19565326
PDF is available here.
PDF is available here.
White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations.
Abstract
DTI, a noninvasive technique to assess white matter tract pathologic features, may add specificity to the assessment of RTT clinical severity that is presently based on the classification of MeCP2 gene mutation and X-inactivation....
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PMID: 19833797
PDF is available here.
PDF is available here.
Journal of Neuroscience (30)4 2010
Abstract
We identified that gene expression in neuronal cortical cells involves increased histone hyperacetylation on the Slc6a2 promoter, which is commensurate with the recruitment of SP1 and RNA Polymerase II and is inversely correlated with H3K9 trimethylation. We hypothesize that the MeCP2 corepressor is...
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PMID: 20107077
PDF is available here.
PDF is available here.
Abstract
We developed in vitro models representing MeCP2 deficiency induced by siRNAs, and cells expressing the R306C mutation. Using an extended antibody microarray validated by specific assays, revealed that MeCP2 dose was correlated with specific nuclear proteins profiles including the BRM/SNF2 component...
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PMID: 20093853
PDF is available here.
PDF is available here.
Abstract
We review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most pro...
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PMID: 19851857
PDF is available here.
PDF is available here.
Abstract
We review the role of BDNF as a biochemical integrator of convergent cellular signals, and as a central driver of neural plasticity. We conclude by emphasizing the importance of characterizing BDNF signaling cascades in behaviorally-relevant networks, to identify potential drug targets for novel the...
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PMID: 20030625
PDF is available here.
PDF is available here.
Behavior Genetics (40)1 2010
Abstract
We review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most pro...
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PMID: 19851857
PDF is available here.
PDF is available here.
Behavior Genetics (40)1 2010
Abstract
We review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most pro...
|
PMID: 19851857
PDF is available here.
PDF is available here.
Behavior Genetics (40)1 2010
Abstract
We review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most pro...
|
PMID: 19851857
PDF is available here.
PDF is available here.
Behavior Genetics (40)1 2010
Abstract
We review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most pro...
|
PMID: 19851857
PDF is available here.
PDF is available here.
Behavior Genetics (40)1 2010
Abstract
We review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most pro...
|
PMID: 19851857
PDF is available here.
PDF is available here.
Behavior Genetics (40)1 2010
Abstract
We review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most pro...
|
PMID: 19851857
PDF is available here.
PDF is available here.
Behavior Genetics (40)1 2010
Abstract
We review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most pro...
|
PMID: 19851857
PDF is available here.
PDF is available here.
Behavior Genetics (40)1 2010
Abstract
We review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most pro...
|
PMID: 19851857
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Human Genetics (127)1 2010
Abstract
Human Genetics (127)1 2010
Abstract
Human Genetics (127)1 2010
Abstract
Virchows Archiv (456)1 2010
Abstract
We are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these...
|
PMID: 19844740
PDF is available here.
PDF is available here.
Neurogenetics (11)3 2009
Abstract
We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were...
|
PMID: 19921286
PDF is available here.
PDF is available here.
EMBO Journal (28)17 2009
Abstract
We report a new signalling of FAK in regulating chromatin remodelling by its interaction with MBD2 (methyl CpG-binding protein 2), underlying FAK regulation of myogenin expression and muscle differentiation. FAK interacts with MBD2 in vitro, in myotubes, and in isolated muscle fibres. Such an intera...
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PMID: 19661918
PDF is available here.
PDF is available here.