Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development.
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Rett syndrome - biological pathways leading from MECP2 to disorder phenotypesMice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expressionA partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.Novel 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.MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells.MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolutionALS mutations in TLS/FUS disrupt target gene expression.A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.Severe changes in colon epithelium in the Mecp2-null mouse model of Rett syndrome.Rett syndrome and MeCP2.MeCP2: multifaceted roles in gene regulation and neural development.The Role of Noncoding RNAs in Neurodevelopmental Disorders: The Case of Rett Syndrome.Isoform-specific anti-MeCP2 antibodies confirm that expression of the e1 isoform strongly predominates in the brain.Neuron-specific alternative splicing of transcriptional machineries: Implications for neurodevelopmental disorders.MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.Rett syndrome: a neurological disorder with metabolic components.
P2860
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P2860
Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Methyl CpG-binding protein iso ...... lity and placenta development.
@ast
Methyl CpG-binding protein iso ...... lity and placenta development.
@en
type
label
Methyl CpG-binding protein iso ...... lity and placenta development.
@ast
Methyl CpG-binding protein iso ...... lity and placenta development.
@en
prefLabel
Methyl CpG-binding protein iso ...... lity and placenta development.
@ast
Methyl CpG-binding protein iso ...... lity and placenta development.
@en
P2093
P2860
P356
P1476
Methyl CpG-binding protein iso ...... lity and placenta development.
@en
P2093
Akihiro Kurimasa
Akihiro Otsuki
Candice G T Tahimic
Masayuki Itoh
Mitsuo Oshimura
Shigeru Noguchi
Shuhei Ide
Toshikuni Sasaoka
Yu-ichi Goto
P2860
P304
13859-13867
P356
10.1074/JBC.M111.309864
P407
P577
2012-02-28T00:00:00Z