Linked Life Data

18383876

Source:http://linkedlifedata.com/resource/pubmed/id/18383876

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1B
pubmed:dateCreated
2008-4-3
pubmed:abstractText
Ataxia telangiectasia (AT) is a rare neurodegenerative, autosomal recessive disorder characterized by chromosome instability, radiosensitivity, immunodeficiency and a predisposition for cancer. Epidemiological studies have shown that AT heterozygotes have a predisposition for cancer, especially for breast cancer in women. The disease is caused by mutations in the ATM gene, leading to total loss of the ATM protein, which normally recognizes DNA damage, activates the DNA repair machinery and the cell cycle check points in order to minimize the risk of genetic damage. This review summarizes the clinical features of AT and the natural history of the disease and puts recent molecular advances into the context of the cellular and clinical phenotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0250-7005
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
401-5
pubmed:dateRevised
2011-11-2
pubmed:meshHeading
pubmed:articleTitle
The ATM gene and ataxia telangiectasia.
pubmed:affiliation
Department of Medical Genetics, Athens University School of Medicine, "Aghia Sofia" Childrens' Hospital, Thivon and Levadias, 115 27 Athens, Greece. ariamav@hol.gr
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't