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Down syndrome: from understanding the neurobiology to therapy

Gardiner, Katheleen
Lott, Ira T.
Reeves, Roger H.
Dierssen, Mara
Published in Journal of Neuroscience. 2010, vol. 30, no. 45, p. 14943-14945
Abstract Down syndrome (DS) is the most common example of a neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of human chromosome 21 producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. Understanding the consequences of dosage imbalance attributable to trisomy 21 (T21) has accelerated because of recent advances in genome sequencing, comparative genome analysis, functional genome exploration, and the use of model organisms. This has led to new evidence-based therapeutic approaches to prevention or amelioration of T21 effects on brain structure and function (cognition) and has important implications for other areas of research on the neurogenomics of cognition and behavior.
Keywords AnimalsDisease Models, AnimalDown Syndrome/genetics/*physiopathology/*therapyHumansIntellectual Disability/genetics/*physiopathology
PMID: 21068296
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Other version: http://www.jneurosci.org/content/30/45/14943.full.pdf
Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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GARDINER, Katheleen et al. Down syndrome: from understanding the neurobiology to therapy. In: Journal of Neuroscience, 2010, vol. 30, n° 45, p. 14943-14945. doi: 10.1523/JNEUROSCI.3728-10.2010 https://archive-ouverte.unige.ch/unige:20955

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Deposited on : 2012-05-23

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