Down syndrome caused by chromosome 21 trisomy is the most common genetic cause of
mental retardation in humans. Disruption of the phenotype is thought to be the result of gene-
dosage imbalance. Variations in chromosome 21 gene expression in Down syndrome were …

The mechanisms by which trisomy 21 leads to the characteristic Down syndrome (DS)
phenotype are unclear. We used whole genome microarrays to characterize for the first time
the transcriptome of human adult brain tissue (dorsolateral prefrontal cortex) from seven DS …

Down syndrome, caused by trisomic chromosome 21, is the leading genetic cause of mental
retardation. Recent studies demonstrated that dosage-dependent increases in chromosome
21 gene expression occur in trisomy 21. However, it is unclear whether the entire …

The Down syndrome phenotype has been attributed to overexpression of chromosome 21
(Hsa21) genes. However, the expression profile of Hsa21 genes in trisomic human subjects
as well as their effects on genes located on different chromosomes are largely unknown …

The primary abnormality in Down syndrome (DS), trisomy 21, is well known; but how this
chromosomal gain produces the complex DS phenotype, including immune system defects,
is not well understood. We profiled DNA methylation in total peripheral blood leukocytes …

Though different in their aetiology, autism spectrum disorder (ASD), Rett syndrome (RTT)
and Down syndrome (DS) are three neurodevelopmental disorders sharing significant
clinical and neuropathological overlaps. Genome-wide expression studies are reviewed and …

Down syndrome (DS) is a developmental disorder whose mental impairment is due to
defective cortical development. Human neural progenitor cells (hNPCs) derived from fetal
DS cortex initially produce normal numbers of neurons, but generate fewer neurons with …

Down syndrome is a chromosomal disorder caused by the presence of three copies of
chromosome 21. The mechanisms by which this aneuploidy produces the complex and
variable phenotype observed in people with Down syndrome are still under discussion …

Since the genetic basis for Down syndrome (DS) was described, understanding the
causative relationship between genes at dosage imbalance and phenotypes associated
with DS has been a principal goal of researchers studying trisomy 21 (Ts21). Though …

The molecular mechanisms by which trisomy of human chromosome 21 disrupts normal
development are not well understood. Global transcriptome studies attempting to analyze
the consequences of trisomy in Down syndrome (DS) tissues have reported conflicting …