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Gene expression dysregulation domains are not a specific feature of Down syndrome

6 Jun 2019

Abstract excerpt

Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), results in a broad range of phenotypes. A recent study reported that DS cells show genome-wide transcriptional changes in which up- or down-regulated genes are clustered in gene expression dysregulation domains (GEDDs). GEDDs were also reported in fibroblasts derived from a DS mouse model duplicated for some Hsa21-orthologous genes, indicating...

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PMID: 31171815
DOI: 10.1038/s41467-019-10129-9

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