Rett syndrome, a severe delayed-onset autism spectrum disorder, affects at least 1 in every 10,000 females. The syndrome is caused by a mutation of the MECP2 gene, which is located on the X ...

Rett综合征是一种由编码甲基CpG结合蛋白2 （MeCP2）的MeCP2基因突变引起的严重神经系统疾病。 贝勒医学院、德克萨斯儿童医院Jan and Dan Duncan神经研究所（Duncan NRI）和合作机构的研究人员对导致Rett综合征的分子变化有了新的认识，Rett综合征是一种由编码甲基CpG ...

Rett syndrome is a sporadic disorder (except for ... About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene (MECP2). The role of this gene in the pathogenesis of this ...

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, ...

Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era ...

Researchers have gained new insights into the molecular changes leading to Rett syndrome, a severe neurological disorder caused by mutations in the MeCP2 gene encoding methyl-CpG binding protein 2 ...

The resulting discord in gene expression leads to Rett syndrome. "In the current study, our goal was to better understand the molecular changes that occur upon loss of MeCP2 function. Previous ...

"We artificially triggered the onset of Rett syndrome symptoms in mice to precisely map the sequence of events that occurs when MECP2 is malfunctioning. Our study uncovered a core set of genes ...

The MeCP2 protein is most highly expressed in ... The resulting discord in gene expression leads to Rett syndrome. During the development of an organism, many genes are expressed and repressed ...

We artificially triggered the onset of Rett syndrome symptoms in mice to precisely map the sequence of events that occurs when MECP2 is malfunctioning. Our study uncovered a core set of genes that ...