Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.
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The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett SyndromeNovel MeCP2 isoform-specific antibody reveals the endogenous MeCP2E1 expression in murine brain, primary neurons and astrocytes.Brain region-specific expression of MeCP2 isoforms correlates with DNA methylation within Mecp2 regulatory elements.CAGE-defined promoter regions of the genes implicated in Rett Syndrome.Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.MECP2 genomic structure and function: insights from ENCODERole of conserved cis-regulatory elements in the post-transcriptional regulation of the human MECP2 gene involved in autism.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).Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
P2860
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P2860
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Lost in translation: translati ...... t mutation in exon 1 of MECP2.
@en
type
label
Lost in translation: translati ...... t mutation in exon 1 of MECP2.
@en
prefLabel
Lost in translation: translati ...... t mutation in exon 1 of MECP2.
@en
P2093
P2860
P356
P1476
Lost in translation: translati ...... t mutation in exon 1 of MECP2.
@en
P2093
D de Lagarde
E Thompson
J Christodoulou
S L Williamson
V Vasudevan
P2860
P304
P356
10.1136/JMG.2005.036244
P407
P577
2005-09-09T00:00:00Z