Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
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?Rett Syndrome: Crossing the Threshold to Clinical TranslationMECP2 disorders: from the clinic to mice and backDNA methylation in mammalsGenetic modifiers of MeCP2 function in Drosophila.A review of Rett syndrome (RTT) with induced pluripotent stem cellsCrh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndromeA 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 rearrangementsEx vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutationsBrain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturationClinical impacts of genomic copy number gains at Xq28Reduced 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.Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.Neurodevelopmental Disorders and Environmental Toxicants: Epigenetics as an Underlying MechanismGABAA receptor antagonism ameliorates behavioral and synaptic impairments associated with MeCP2 overexpressionRett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmissionStructural 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.A 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.Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.Rett syndrome diagnostic criteria: lessons from the Natural History StudyDrosophila modeling of heritable neurodevelopmental disordersDelineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.Experimental models of Rett syndrome based on Mecp2 dysfunction.High-resolution genomic microarrays for X-linked mental retardation.XLMR genes: update 2007.De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.Autism-associated gene expression in peripheral leucocytes commonly observed between subjects with autism and healthy women having autistic childrenHyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 genePartial rescue of MeCP2 deficiency by postnatal activation of MeCP2.Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.
P2860
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P2860
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Submicroscopic duplication in ...... and features of Rett syndrome.
@en
Submicroscopic duplication in ...... and features of Rett syndrome.
@nl
type
label
Submicroscopic duplication in ...... and features of Rett syndrome.
@en
Submicroscopic duplication in ...... and features of Rett syndrome.
@nl
prefLabel
Submicroscopic duplication in ...... and features of Rett syndrome.
@en
Submicroscopic duplication in ...... and features of Rett syndrome.
@nl
P2093
P356
P1476
Submicroscopic duplication in ...... and features of Rett syndrome.
@en
P2093
Gerresheim F
Hagedorn M
Hameister K
Herchenbach J
P356
10.1136/JMG.2004.023804
P407
P577
2005-02-01T00:00:00Z