Transcriptomics

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Comparative Genome-wide expression profiling of ADLD whole blood and fibroblasts cell lines.


ABSTRACT: Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by autonomic dysfunction, followed by cerebellar and pyramidal features. ADLD is caused by duplication of the lamin B1 gene (LMNB1), which leads to its increased expression. The molecular pathways involved in the disease are still poorly understood. Hence, we analyzed global gene expression in fibroblasts and whole blood of LMNB1 duplication carriers and used Gene Set Enrichment Analysis (GSEA) to explore their gene signatures. We found that LMNB1 duplication is associated with dysregulation of genes involved in the immune system, neuronal and skeletal development. Genes with an altered transcriptional profile clustered in specific genomic regions.

ORGANISM(S): Homo sapiens

PROVIDER: GSE65368 | GEO | 2015/01/29

SECONDARY ACCESSION(S): PRJNA273810

REPOSITORIES: GEO

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