Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …

Aneuploidy, a genomic alternation characterized by deviations in the copy number of
chromosomes, affects organisms from early development through to aging. Although it is a …

HeLa is the most widely used model cell line for studying human cellular and molecular
biology. To date, no genomic reference for this cell line has been released, and experiments …

We summarize, in this review, the evidence that genomic balance influences gene
expression, quantitative traits, dosage compensation, aneuploid syndromes, population …

Extra chromosome copies markedly alter the physiology of eukaryotic cells, but the
underlying reasons are not well understood. We created human trisomic and tetrasomic cell …

In this article, we first present a summary of the general assumptions about Down syndrome
(DS) still to be found in the literature. We go on to show how new research has modified …

Down's syndrome is a common disorder with enormous medical and social costs, caused by
trisomy for chromosome 21. We tested the concept that gene imbalance across an extra …

Down syndrome (DS) is caused by trisomy of all or part of human chromosome 21 (HSA21)
and is the most common genetic cause of significant intellectual disability. In addition to …

Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all
or part of an extra Chromosome 21. It is a common birth defect, the most frequent and most …

The dosage of the serine threonine kinase DYRK1A is critical in the central nervous system
(CNS) during development and aging. This review analyzes the functions of this kinase by …