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8p11myeloproliferativesyndrome with a novelt(7;8) translocationleading to fusion ofthe FGFR1 and TIF1genes Elena BelloniMaurizio TrubiaPatrizia Gasparini2004 год

8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes
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Аннотация: Abstract 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. © 2004 Wiley‐Liss, Inc.
Год издания: 2004
Авторы: Elena Belloni, Maurizio Trubia, Patrizia Gasparini, Carla Micucci, Cinzia Tapinassi, Stefano Confalonieri, Paolo Nucíforo, Bruno Martino, Francesco Lo‐Coco, Pier Giuseppe Pelicci, Pier Paolo Di Fiore
Издательство: Wiley
Источник: Genes Chromosomes and Cancer
Ключевые слова: Fibroblast Growth Factor Research, Eosinophilic Disorders and Syndromes, Kruppel-like factors research
Другие ссылки: Genes Chromosomes and Cancer (HTML)
PubMed (HTML)