Chromosome 21 and Down syndrome: from genomics to pathophysiology

By Stylianos E. Antonarakis, R. Lyle, Emmanouil T. Dermitzakis, Alexandre Reymond, S. Deutsch. Nature reviews genetics, 2004

687 citations recorded by the source corpus.

The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences. Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance.

Subfields: Genetics, Public Health, Environmental and Occupational Health

View Paper: https://www.semanticscholar.org/paper/3a54d36cc7f7134d188e2b7670b08532c65b2bd7

Citations in the corpus

• [Down syndrome]. (2003, neutral): “For example, cognitive impairment is present in all patients with DS, so as muscle hypotonia and Alzheimer disease neuropathology after 35 years (Antonarakis,2004).”
• Disease-specific induced pluripotent stem (iPS) cells (2008, neutral): “…Building 7214, 300 Longwood Avenue, Boston, MA 02115 2Massachusetts General Hospital Cancer Center and Center for Regenerative Medicine and Department of Stem Cell and Regenerative Biology, 185 Cambridge Street, Boston, MA 02114, USA 3Department of Molecular and Cellular Biology, Harvard…”