Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
about
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationCNV and nervous system diseases--what's new?Mechanisms underlying structural variant formation in genomic disordersRett Syndrome: Crossing the Threshold to Clinical TranslationMECP2 disorders: from the clinic to mice and backGenetic modifiers of MeCP2 function in Drosophila.Major influence of repetitive elements on disease-associated copy number variants (CNVs)Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndromeGenomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeMeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse numberA partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndromeCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsDendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutationsLoss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.Clinical impacts of genomic copy number gains at Xq28A microhomology-mediated break-induced replication model for the origin of human copy number variation.Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.MeCP2 recognizes cytosine methylated tri-nucleotide and di-nucleotide sequences to tune transcription in the mammalian brain.GABAA receptor antagonism ameliorates behavioral and synaptic impairments associated with MeCP2 overexpressionExperimental Autoimmune Encephalomyelitis (EAE)-Induced Elevated Expression of the E1 Isoform of Methyl CpG Binding Protein 2 (MeCP2E1): Implications in Multiple Sclerosis (MS)-Induced Neurological Disability and Associated Myelin DamageEvolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.Copy number variation in human health, disease, and evolution.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.Drosophila as a model for MECP2 gain of function in neurons.Cell-autonomous alterations in dendritic arbor morphology and connectivity induced by overexpression of MeCP2 in Xenopus central neurons in vivoStructural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthSystemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndromeA partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.Astrocyte-specific regulation of hMeCP2 expression in Drosophila.Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.Drosophila modeling of heritable neurodevelopmental disordersExperimental models of Rett syndrome based on Mecp2 dysfunction.High-resolution genomic microarrays for X-linked mental retardation.
P2860
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P2860
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Increased MECP2 gene copy numb ...... developmentally delayed males.
@en
Increased MECP2 gene copy numb ...... developmentally delayed males.
@nl
type
label
Increased MECP2 gene copy numb ...... developmentally delayed males.
@en
Increased MECP2 gene copy numb ...... developmentally delayed males.
@nl
prefLabel
Increased MECP2 gene copy numb ...... developmentally delayed males.
@en
Increased MECP2 gene copy numb ...... developmentally delayed males.
@nl
P2093
P2860
P50
P1433
P1476
Increased MECP2 gene copy numb ...... developmentally delayed males.
@en
P2093
Amber A Pursley
Ankita Patel
Arthur L Beaudet
Benjamin B Roa
Christine M Eng
Daniel G Glaze
Daniela del Gaudio
Debra Freedenberg
Fernando Scaglia
Gary E Hsich
P2860
P304
P356
10.1097/01.GIM.0000250502.28516.3C
P407
P577
2006-12-01T00:00:00Z
P5875
P6179
1038895897