Chromosome 21 and down syndrome: from genomics to pathophysiology

SE Antonarakis, R Lyle, ET Dermitzakis… - Nature reviews …, 2004 - nature.com
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 …

Down syndrome and the complexity of genome dosage imbalance

SE Antonarakis - Nature Reviews Genetics, 2017 - nature.com
Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …

Down syndrome genetics: unravelling a multifactorial disorder

D Hernandez, EMC Fisher - Human molecular genetics, 1996 - academic.oup.com
Down syndrome is a common disorder affecting many tissues both during development and
later on in adult life; the principle feature of all cases is a specific form of mental retardation …

The sequence of human chromosome 21 and implications for research into Down syndrome

K Gardiner, M Davisson - Genome biology, 2000 - Springer
The recent completion of the DNA sequence of human chromosome 21 has provided the
first look at the 225 genes that are candidates for involvement in Down syndrome (trisomy …

Rodent models in Down syndrome research: impact and future opportunities

Y Herault, JM Delabar, EMC Fisher… - Disease models & …, 2017 - journals.biologists.com
Down syndrome is caused by trisomy of chromosome 21. To date, a multiplicity of mouse
models with Down-syndrome-related features has been developed to understand this …

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

EA Yahya-Graison, J Aubert, L Dauphinot… - The American Journal of …, 2007 - cell.com
Down syndrome caused by chromosome 21 trisomy is the most common genetic cause of
mental retardation in humans. Disruption of the phenotype is thought to be the result of gene …

Down syndrome: advances in molecular biology and the neurosciences

GT Capone - Journal of Developmental & Behavioral Pediatrics, 2001 - journals.lww.com
The entire DNA sequence for human chromosome 21 is now complete, and it is predicted to
contain only about 225 genes, which is approximately three-fold fewer than the number …

Too much of a good thing: mechanisms of gene action in Down syndrome

RH Reeves, LL Baxter, JT Richtsmeier - TRENDS in Genetics, 2001 - cell.com
The molecular mechanisms underlying the specific traits in individuals with Down syndrome
(DS) have been postulated to derive either from nonspecific perturbation of balanced …

Understanding the basis for Down syndrome phenotypes

RJ Roper, RH Reeves - PLoS genetics, 2006 - journals.plos.org
Down syndrome is a collection of features that are caused by trisomy for human
Chromosome 21. While elevated transcript levels of the more than 350 genes on the …

Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain

R Mao, CL Zielke, HR Zielke, J Pevsner - Genomics, 2003 - Elsevier
Down syndrome (DS) results from complete or partial triplication of human chromosome 21.
It is assumed that the neurological and other symptoms are caused by the overexpression of …