Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.
about
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticistThe genetics of autistic disorders and its clinical relevance: a review of the literatureEpigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationDNA modifications: function and applications in normal and disease StatesDisease mutations in disordered regions--exception to the rule?The Intense World Theory – A Unifying Theory of the Neurobiology of AutismSodium channels SCN1A, SCN2A and SCN3A in familial autismCrh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndromeA brain-derived MeCP2 complex supports a role for MeCP2 in RNA processingDysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypesLoss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.A role for MeCP2 in switching gene activity via chromatin unfolding and HP1γ displacement.Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylationHigh levels of MeCP2 depress MHC class I expression in neuronal cells.Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes.X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndromeRett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmissionNovel MeCP2 isoform-specific antibody reveals the endogenous MeCP2E1 expression in murine brain, primary neurons and astrocytes.Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disordersGABA system dysfunction in autism and related disorders: from synapse to symptomsLinking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophreniaRegulatory functions and pathological relevance of the MECP2 3'UTR in the central nervous system.MECP2 abnormality phenotypes: clinicopathologic area with broad variability.Does genotype predict phenotype in Rett syndrome?Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations.Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.Evolving role of MeCP2 in Rett syndrome and autism.Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.Rett syndrome and MeCP2.Transcriptional Regulation of Brain-Derived Neurotrophic Factor (BDNF) by Methyl CpG Binding Protein 2 (MeCP2): a Novel Mechanism for Re-Myelination and/or Myelin Repair Involved in the Treatment of Multiple Sclerosis (MS).Review of evolution of clinical, training and educational services and research program for autism spectrum disorders in Hong Kong.The complex genetics in autism spectrum disorders.
P2860
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P2860
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh-hant
name
Spectrum of mutations in the M ...... tile autism and Rett syndrome.
@en
Spectrum of mutations in the M ...... tile autism and Rett syndrome.
@nl
type
label
Spectrum of mutations in the M ...... tile autism and Rett syndrome.
@en
Spectrum of mutations in the M ...... tile autism and Rett syndrome.
@nl
prefLabel
Spectrum of mutations in the M ...... tile autism and Rett syndrome.
@en
Spectrum of mutations in the M ...... tile autism and Rett syndrome.
@nl
P2093
P356
P1476
Spectrum of mutations in the M ...... tile autism and Rett syndrome.
@en
P2093
P356
10.1136/JMG.37.12.E41
P407
P577
2000-12-01T00:00:00Z