title: New insights in Rett syndrome using pathway analysis for transcriptomics data.
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.
authors: Department for Bioinformatics - BiGCaT, Maastricht University, Maastricht, The Netherlands. friederike.ehrhart@maastrichtuniversity.nl.|Governor Kremers Centre - Rett Expertise Centre, Maastricht University Medical Centre, Maastricht, The Netherlands. friederike.ehrhart@maastrichtuniversity.nl.
authors: Friederike
authors: http://orcid.org/0000-0002-7770-620X
authors: F
authors: Ehrhart
authors: Department for Bioinformatics - BiGCaT, Maastricht University, Maastricht, The Netherlands.
authors: Susan L M
authors: SL
authors: Coort
authors: Department for Bioinformatics - BiGCaT, Maastricht University, Maastricht, The Netherlands.
authors: Elisa
authors: E
authors: Cirillo
authors: Governor Kremers Centre - Rett Expertise Centre, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors: Eric
authors: E
authors: Smeets
authors: Department for Bioinformatics - BiGCaT, Maastricht University, Maastricht, The Netherlands.|Governor Kremers Centre - Rett Expertise Centre, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors: Chris T
authors: CT
authors: Evelo
authors: Governor Kremers Centre - Rett Expertise Centre, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors: Leopold
authors: L
authors: Curfs
mesh_terms: D000818:Animals; D002648:Child; D002675:Child, Preschool; D019295:Computational Biology; D004195:Disease Models, Animal; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D051379:Mice; D010641:Phenotype; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; C497393:Mecp2 protein, mouse; D051783:Methyl-CpG-Binding Protein 2
keywords: Bioinformatics; Pathway analysis; Rare disease; Rett syndrome; Systems biology