2024年12月25日 · MECP2 (Methyl-CpG Binding Protein 2) is a Protein Coding gene. Diseases associated with MECP2 include Rett Syndrome and Encephalopathy, Neonatal Severe, Due …

2024年8月20日 · We discovered that MeCP2 exhibits distinct one-dimensional diffusion kinetics when bound to unmethylated versus CpG methylated DNA, enabling methylation-specific …

This gene has 11 transcripts (splice variants), 1 gene allele, 1 paralogue and is associated with 22 phenotypes.

Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome (RTT), a rare neurodevelopmental disorder with a notable period of developmental regression …

Two autistic disorder females were found to have de novo mutations in the MECP2 gene, one a 41-bp deletion beginning at nucleotide 1157 (300005.0012), the other an arg294-to-ter …

Until recently, transcripts from the MECP2 gene locus were limited to a 76-kb interval positioned in the 125-kb gap between the neighbouring genes, encoding the interleukin-1 receptor …

2022年6月1日 · MECP2 gene mutations in RTT patients that occur in MeCP2 IDR2 and methyl-CpG-binding domain, could contribute to the formation of condensates. To verify if mutations …

In this review, we will discuss the heuristic evolution of the view of MeCP2, from a single function protein to a multifunctional nuclear protein that directly affects chromatin architecture and is …

2025年2月8日 · MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of …

2025年3月13日 · To analyze the molecular mechanism of MeCP2 alternative splicing, we prepared a splicing reporter based on the H492 vector that contains a portion of the mouse …