Publications by authors named "Leire Urquiza"

Transcriptional activation of the EVI1 oncogene (3q26) leads to aggressive forms of human acute myeloid leukemia (AML). However, the mechanism of EVI1-mediated leukemogenesis has not been fully elucidated. Previously, by characterizing the EVI1 promoter, we have shown that RUNX1 and ELK1 directly regulate EVI1 transcription.

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Germline GATA2 mutations have been identified as the cause of familial syndromes with immunodeficiency and predisposition to myeloid malignancies. GATA2 mutations appear to cause loss of function of the mutated allele leading to haploinsufficiency; however, this postulate has not been experimentally validated as the basis of these syndromes. We hypothesized that mutations that are translated into abnormal proteins could affect the transcription of GATA2, triggering GATA2 deficiency.

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Osteosarcoma is the most common malignant bone tumor in children and adolescents. The presence of metastases and the lack of response to conventional treatment are the major adverse prognostic factors. Therefore, there is an urgent need for new treatment strategies that overcome both of these problems.

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Article Synopsis
  • The study investigates the role of the transcription factor Sox2 in glioblastoma multiforme (GBM), finding that it's amplified and overexpressed in most tumor samples, indicating its potential contribution to the tumor's aggressive nature.
  • Analysis of the Sox2 promoter revealed that it is hypomethylated in GBM samples, suggesting altered epigenetic regulation could lead to Sox2 overexpression.
  • Functional tests showed that while Sox2 is crucial for glioma cell invasion and migration, it is not sufficient alone to maintain self-renewal properties in brain tumor stem cells, highlighting its complex role and potential as a therapeutic target in GBM.
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