Exploring Single-Cell Gene Regulatory Dynamics in Rett Syndrome

Abstract excerpt

Rett syndrome is a monogenic disorder with an incidence of 95% in women, characterized by the complexity of studying the associated phenotype due to the heterogeneity in patient tissues from the stochastic silencing of the affected X chromosome. Furthermore, we are largely unaware of the cascade of alterations that occur in neurons due to transcriptional changes induced by the affected MECP2 gene. To address these...

Topics

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• Disease Models, Animal
• Disease Progression
• Methyl-CpG-Binding Protein 2
• Mice
• Mutation
• Rett Syndrome
• Single-Cell Analysis
• Transcriptome

Identifiers and source

Literature Corpus work

63d1a144-96a2-5cd8-8386-c47a486e06d4

DOI

10.1101/2025.10.01.679774