Consequences of aneuploidy in human fibroblasts with trisomy 21

Abstract excerpt

An extra copy of chromosome 21 causes Down syndrome, the most common genetic disease in humans. The mechanisms by which the aneuploid status of the cell, independent of the identity of the triplicated genes, contributes to the pathologies associated with this syndrome are not well defined. To characterize aneuploidy driven phenotypes in trisomy 21 cells, we performed global transcriptome, proteome, and phenotypic...

Topics

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• Autophagy in Disease and Therapy
• Down syndrome and intellectual disability research
• Endoplasmic Reticulum Stress and Disease
• Genomic variations and chromosomal abnormalities
• Microtubule and mitosis dynamics
• Prenatal Screening and Diagnostics
• RNA modifications and cancer
• Ubiquitin and proteasome pathways

Identifiers and source

Literature Corpus work

997e33f2-5e25-5629-8528-f0c2d1311b6d

DOI

10.1101/2020.08.14.251082