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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0040715,
umls-concept:C0205314,
umls-concept:C0297418,
umls-concept:C0332466,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C0679622,
umls-concept:C0919509,
umls-concept:C1522538,
umls-concept:C1522702,
umls-concept:C1823488,
umls-concept:C2827362
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pubmed:issue |
3
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pubmed:dateCreated |
2005-1-17
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pubmed:abstractText |
8p11 myeloproliferative syndrome (EMS) is a clinical-pathologic entity characterized by rearrangements involving the FGFR1 gene, which encodes a receptor tyrosine kinase. These rearrangements invariably lead to aberrant fusion proteins in which the kinase activity is constitutively turned on, with resulting oncogenic properties. In this article, we describe a new translocation in EMS, t(7;8)(q34;p11), in which the FGFR1 gene is fused to a previously unidentified partner, the TIF1 gene. We show that both the TIF1-FGFR1 and FGFR1-TIF1 fusion proteins have the potential to be translated as a result of the translocation. Thus, our data extend the involvement of FGFR1 in EMS and lend support to the concept that there is a precise correlation between genotype and phenotype in this disease.
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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/Apoptosis Regulatory Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/FGFR1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Myosin Heavy Chains,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Oncogene Proteins, Fusion,
http://linkedlifedata.com/resource/pubmed/chemical/Receptor, Fibroblast Growth...,
http://linkedlifedata.com/resource/pubmed/chemical/Receptor Protein-Tyrosine Kinases,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Fibroblast Growth Factor,
http://linkedlifedata.com/resource/pubmed/chemical/TIAF1 protein, human
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1045-2257
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pubmed:author |
pubmed-author:BelloniElenaE,
pubmed-author:ConfalonieriStefanoS,
pubmed-author:Di FiorePier PaoloPP,
pubmed-author:GaspariniPatriziaP,
pubmed-author:Lo-CocoFrancescoF,
pubmed-author:MartinoBrunoB,
pubmed-author:MicucciCarlaC,
pubmed-author:NuciforoPaoloP,
pubmed-author:PelicciPier GiuseppePG,
pubmed-author:TapinassiCinziaC,
pubmed-author:TrubiaMaurizioM
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pubmed:issnType |
Print
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
320-5
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pubmed:dateRevised |
2010-5-26
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pubmed:meshHeading |
pubmed-meshheading:15609342-Apoptosis,
pubmed-meshheading:15609342-Apoptosis Regulatory Proteins,
pubmed-meshheading:15609342-Base Sequence,
pubmed-meshheading:15609342-Carrier Proteins,
pubmed-meshheading:15609342-Chromosomes, Human, Pair 7,
pubmed-meshheading:15609342-Chromosomes, Human, Pair 8,
pubmed-meshheading:15609342-Female,
pubmed-meshheading:15609342-Genotype,
pubmed-meshheading:15609342-Humans,
pubmed-meshheading:15609342-Middle Aged,
pubmed-meshheading:15609342-Molecular Sequence Data,
pubmed-meshheading:15609342-Myeloproliferative Disorders,
pubmed-meshheading:15609342-Myosin Heavy Chains,
pubmed-meshheading:15609342-Nuclear Proteins,
pubmed-meshheading:15609342-Oncogene Proteins, Fusion,
pubmed-meshheading:15609342-Phenotype,
pubmed-meshheading:15609342-Receptor, Fibroblast Growth Factor, Type 1,
pubmed-meshheading:15609342-Receptor Protein-Tyrosine Kinases,
pubmed-meshheading:15609342-Receptors, Fibroblast Growth Factor,
pubmed-meshheading:15609342-Syndrome,
pubmed-meshheading:15609342-Translocation, Genetic
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pubmed:year |
2005
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pubmed:articleTitle |
8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes.
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pubmed:affiliation |
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy. elena.belloni@ifom-ieo-campus.it
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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