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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
18
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pubmed:dateCreated |
2005-9-5
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pubmed:abstractText |
Ataxia telangiectasia (A-T) is an autosomal recessive disease caused by loss of function of the serine/threonine protein kinase ATM (ataxia telangiectasia mutated). A-T patients have a 250-700-fold increased risk of developing lymphomas and leukemias which are typically highly invasive and proliferative. In addition, a subset of adult acute lymphoblastic leukemias and aggressive B-cell chronic lymphocytic leukemias that occur in the general population show loss of heterozygosity for ATM. To define the specific role of ATM in lymphomagenesis, we studied T-cell lymphomas isolated from mice with mutations in ATM and/or p53 using cytogenetic analysis and mRNA transcriptional profiling. The analyses identified genes misregulated as a consequence of the amplifications, deletions and translocation events arising as a result of ATM loss. A specific recurrent disruption of the granzyme gene family locus was identified resulting in an aberrant granzyme B/C fusion product. The combined application of cytogenetic and gene expression approaches identified specific loci and genes that define the pathway of initiation and progression of lymphoreticular malignancies in the absence of ATM.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Cell Cycle Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Granzymes,
http://linkedlifedata.com/resource/pubmed/chemical/Gzmb protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/Gzmc protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/Protein-Serine-Threonine Kinases,
http://linkedlifedata.com/resource/pubmed/chemical/Serine Endopeptidases,
http://linkedlifedata.com/resource/pubmed/chemical/Tumor Suppressor Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/ataxia telangiectasia mutated...
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0964-6906
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pubmed:author |
pubmed-author:BarlowCarroleeC,
pubmed-author:BowesT ATA,
pubmed-author:CallahanMarie AMA,
pubmed-author:HaselKarl WKW,
pubmed-author:HilbushBrian SBS,
pubmed-author:LockhartDavid JDJ,
pubmed-author:PankratzDaniel GDG,
pubmed-author:VibatCecile Rose TCR,
pubmed-author:WarrenAmy JAJ,
pubmed-author:WeaverZoëZ,
pubmed-author:WinrowChristopher JCJ,
pubmed-author:Wynshaw-BorisAnthonyA
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
14
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2671-84
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pubmed:dateRevised |
2011-11-2
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pubmed:meshHeading |
pubmed-meshheading:16087685-Animals,
pubmed-meshheading:16087685-Blotting, Northern,
pubmed-meshheading:16087685-Cell Cycle Proteins,
pubmed-meshheading:16087685-Cell Line, Tumor,
pubmed-meshheading:16087685-Computational Biology,
pubmed-meshheading:16087685-Cytogenetic Analysis,
pubmed-meshheading:16087685-DNA Primers,
pubmed-meshheading:16087685-DNA-Binding Proteins,
pubmed-meshheading:16087685-Gene Expression Profiling,
pubmed-meshheading:16087685-Gene Expression Regulation, Neoplastic,
pubmed-meshheading:16087685-Granzymes,
pubmed-meshheading:16087685-In Situ Hybridization, Fluorescence,
pubmed-meshheading:16087685-Lymphoma, T-Cell,
pubmed-meshheading:16087685-Mice,
pubmed-meshheading:16087685-Mice, Knockout,
pubmed-meshheading:16087685-Microarray Analysis,
pubmed-meshheading:16087685-Models, Biological,
pubmed-meshheading:16087685-Mutation,
pubmed-meshheading:16087685-Protein-Serine-Threonine Kinases,
pubmed-meshheading:16087685-Recombination, Genetic,
pubmed-meshheading:16087685-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:16087685-Serine Endopeptidases,
pubmed-meshheading:16087685-Tumor Suppressor Proteins
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pubmed:year |
2005
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pubmed:articleTitle |
Aberrant recombination involving the granzyme locus occurs in Atm-/- T-cell lymphomas.
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pubmed:affiliation |
The Salk Institute for Biological Studies, The Laboratory of Genetics, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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