Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
about
Advances in autism genetics: on the threshold of a new neurobiologyEpigenetic 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 retardationThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Rett syndrome: revised diagnostic criteria and nomenclatureThe odyssey of MeCP2 and parental imprintingRett syndrome: clinical review and genetic updateAngelman syndrome: a review of the clinical and genetic aspectsRett syndrome and the MECP2 gene15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disordersThe Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett SyndromeDNA modifications: function and applications in normal and disease StatesGenetic modifiers of MeCP2 function in Drosophila.Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndromeImmunologic and neurodevelopmental susceptibilities of autismA brain-derived MeCP2 complex supports a role for MeCP2 in RNA processingHigh levels of MeCP2 depress MHC class I expression in neuronal cells.The role of MeCP2 in brain development and neurodevelopmental disordersX-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndromeRegulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.Developmental heterochrony and the evolution of autistic perception, cognition and behaviorRett 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.Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.Annotation: Rett syndrome: recent progress and implications for research and clinical practice.Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.Clinical trials and treatment prospects.Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testingThe role of MeCP2 in CNS development and function.The neurobiology of Rett syndrome.Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.Distinct phenotypes distinguish the molecular classes of Angelman syndromeMECP2 and beyond: phenotype-genotype correlations in Rett syndrome.Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.Adult Phenotypes in Angelman- and Rett-Like Syndromes.Molecular and Clinical Aspects of Angelman Syndrome.Regulatory functions and pathological relevance of the MECP2 3'UTR in the central nervous system.MECP2 abnormality phenotypes: clinicopathologic area with broad variability.Molecular diagnosis of Rett syndrome.
P2860
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P2860
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
description
2001 nî lūn-bûn
@nan
2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Angelman syndrome phenotype as ...... g a methyl CpG binding protein
@ast
Angelman syndrome phenotype as ...... g a methyl CpG binding protein
@en
type
label
Angelman syndrome phenotype as ...... g a methyl CpG binding protein
@ast
Angelman syndrome phenotype as ...... g a methyl CpG binding protein
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prefLabel
Angelman syndrome phenotype as ...... g a methyl CpG binding protein
@ast
Angelman syndrome phenotype as ...... g a methyl CpG binding protein
@en
P2093
P2860
P356
P1476
Angelman syndrome phenotype as ...... g a methyl CpG binding protein
@en
P2093
P2860
P304
P356
10.1136/JMG.38.4.224
P407
P50
P577
2001-04-01T00:00:00Z