Chromosome 21 and down syndrome: from genomics to pathophysiology.

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Serval ID
serval:BIB_E2C14543AA19
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Production externe
Title
Chromosome 21 and down syndrome: from genomics to pathophysiology.
Journal
Nature Reviews. Genetics
Author(s)
Antonarakis S.E., Lyle R., Dermitzakis E.T., Reymond A., Deutsch S.
ISSN
1471-0056[print], 1471-0056[linking]
Publication state
Published
Issued date
2004
Volume
5
Number
10
Pages
725-738
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: ppublish
Abstract
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.
Keywords
Animals, Chromosome Mapping, Chromosomes, Human, Pair 21/genetics, Disease Models, Animal, Down Syndrome/genetics, Down Syndrome/physiopathology, Gene Expression, Genetic Variation, Humans, Mice, Phenotype, Trisomy/genetics
DOI
10.1038/nrg1448
Pubmed
15510164
Web of science
000224246100011
Create date
24/01/2008 15:52
Last modification date
20/08/2019 16:06
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