New insights in Rett syndrome using pathway analysis for transcriptomics data.
Wien Med Wochenschr
; 166(11-12): 346-52, 2016 Sep.
Article
em En
| MEDLINE
| ID: mdl-27517371
ABSTRACT
The analysis of transcriptomics data is able to give an overview of cellular processes, but requires sophisticated bioinformatics tools and methods to identify the changes. Pathway analysis software, like PathVisio, captures the information about biological pathways from databases and brings this together with the experimental data to enable visualization and understanding of the underlying processes. Rett syndrome is a rare disease, but still one of the most abundant causes of intellectual disability in females. Cause of this neurological disorder is mutation of one single gene, the methyl-CpG-binding protein 2 (MECP2) gene. This gene is responsible for many steps in neuronal development and function. Although the genetic mutation and the clinical phenotype are well described, the molecular pathways linking them are not yet fully elucidated. In this study we demonstrate a workflow for the analysis of transcriptomics data to identify biological pathways and processes which are changed in a Mecp2 (-/y) mouse model.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Rett
/
Perfilação da Expressão Gênica
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Newborn
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article