Chromosome 21 and down syndrome: from genomics to pathophysiology.
Détails
ID Serval
serval:BIB_E2C14543AA19
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Chromosome 21 and down syndrome: from genomics to pathophysiology.
Périodique
Nature Reviews. Genetics
ISSN
1471-0056[print], 1471-0056[linking]
Statut éditorial
Publié
Date de publication
2004
Volume
5
Numéro
10
Pages
725-738
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
Mots-clé
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
Pubmed
Web of science
Création de la notice
24/01/2008 16:52
Dernière modification de la notice
20/08/2019 17:06
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