Down syndrome (DS) is the most prevalent chromosomal disorder associated with a higher
incidence of pulmonary arterial hypertension (PAH). The dysfunction of vascular endothelial …

As an aneuploidy, trisomy is associated with mammalian embryonic and postnatal
abnormalities. Understanding the underlying mechanisms involved in mutant phenotypes is …

In individuals with Down syndrome (DS), an additional HSA21 chromosome copy leads to
the overexpression of a myriad of HSA21 genes, disrupting the transcription of the entire …

Astrocytes exert adverse effects on the brains of individuals with Down syndrome (DS).
Although a neurogenic-to-gliogenic shift in the fate-specification step has been reported, the …

Individuals with Down syndrome (DS) commonly show unique pathological phenotypes
throughout their life span. Besides the specific effects of dosage-sensitive genes on …

Chromosome abnormalities induces profound alterations in gene expression, leading to
various disease phenotypes. Recent studies on yeast and mammalian cells have …

Chromosomal segregation errors in germ cells and early embryonic development underlie
aneuploidies, which are numerical chromosomal abnormalities causing fetal absorption …

Modern sequencing technologies produce a single consensus sequence without
distinguishing between homologous chromosomes. Haplotype phasing solves this limitation …

Aneuploidy frequently occurs in cancer and developmental diseases such as Down
syndrome, with its functional consequences implicated in dosage effects on gene …

Chromosomal abnormality causes congenital and acquired intractable diseases. In general,
there are no fundamental treatments for these diseases. To establish platforms to develop …