It took more than 50 years for Marthe Gautier to set the record straight about her discovery of the genetic cause of Down ...
Transcriptomic analyses confirmed the researchers’ expectation that these interferon receptors are expressed at levels roughly 1.5 times higher in fibroblast cell lines derived from people with Down ...
The DNA in our cells (our genome ... The physical features that can result from trisomy 21 are called Down syndrome. However, not every person with Down syndrome has the same physical features ...
Sep. 25, 2024 — People with Down syndrome face a higher risk of developing leukemia. Now researchers explain why, by identifying specific changes in blood cells of people with Down ...
Aneuploidy occurs when there are either too many or too few chromosomes in cells. Down syndrome, for example, is caused by a trisomy—three copies instead of two—of chromosome 21. Amniocentesis and ...
Researchers unveil a new technique for studying neural connections in vivo in a recent study into Down’s syndrome. Transplanted human brain cells (green) and their nuclei (purple). Recent research, ...
Mucopolysaccharidosis is a family of diseases caused by an enzyme deficiency that leads to the accumulation of glycosaminoglycans (GAGs) within the lysosomes of cells. In one particular variant of ...