Linked Life Data

20981769

Source:http://linkedlifedata.com/resource/pubmed/id/20981769

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-10-28
pubmed:abstractText
Trisomy 21 (TRS21), also referred to as Down syndrome, occurs once in every 800-1,000 live births. It is the consequence of an extra copy of HSA21 that causes an imbalanced gene dose effect. TRS21 is the first known genetic cause of cognitive disability. The syndrome is complex, and includes various cardiac, immune, and bone disorders. Most of these signs are highly variable in expression but cognitive disability is the most constant characteristic of persons with TRS21. The syntenies that exist between HSA21 and three mouse chromosomes (MMU10, MMU16, and MMU17) offer the opportunity for a genotype-phenotype correlation. We present here the segmental trisomies available in the mouse and we discuss their contribution to the brain and cognitive phenotypes of TRS21.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1552-4876
pubmed:author
pubmed:copyrightInfo
© 2010 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
154C
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
400-16
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Mouse models of cognitive disabilities in trisomy 21 (Down syndrome).
pubmed:affiliation
Faculty of medicine Aix Marseille University and INSERM. pierre.roubertoux@univmed.fr
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't