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Influence of genetic variants of oxidative stress related genes on prognosis an...

Alves, Raquel; Ventura, Filipa; Jorge, Joana; Ribeiro, Ilda P.; Marques, Gilberto; Coucelo, Margarida; Diamond, Joana; Freitas-Tavares, Paulo

Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the presence of BCR-ABL1 oncogene. Oxidative stress conditions are crucial in tumor development and progression. The NRF2, codified by NFE2L2 gene, plays a central role in redox balance, promoting the transcription of cytoprotective and antioxidant genes such as SOD2, GPX1 and CAT. The action of this transcription factor is regulat...


Genetic variants in oxidative stress-related genes and their impact on prognosi...

Alves, Raquel; Ventura, Filipa; Jorge, Joana; Marques, Gilberto; Coucelo, Margarida; Diamond, Joana; Oliveiros, Bárbara; Pereira, Amélia

Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasia characterized by the BCR::ABL1 fusion gene, which codifies the BCR-ABL protein with increased tyrosine kinase activity. Despite the clinical results for the outstanding tyrosine kinase inhibitors (TKIs), drug resistance is a problem in CML management. Genetic variants that alter redox homeostasis by changing antioxidant enzyme expression or...


Genetic variants of ABC and SLC transporter genes and chronic myeloid leukaemia...

Alves, Raquel; Goncalves, Ana Cristina; Jorge, Joana; Marques, Gilberto; Ribeiro, André B.; Tenreiro, Rita; Coucelo, Margarida; Diamond, Joana

Solute carrier (SLC) and ATP-binding cassette (ABC) transporters comprise a variety of proteins expressed on cell membranes responsible for intrusion or extrusion of substrates, respectively, including nutrients, xenobiotics, and chemotherapeutic agents. These transporters mediate the cellular disposition of tyrosine kinase inhibitors (TKIs), and their genetic variants could affect its function, potentially pre...


Negative MR4·0 chronic myeloid leukaemia and its possible implications for trea...

Cerveira, Nuno; Diamond, Joana; Matos, Sónia; Amorim, Maria L; Coucelo, Margarida; Bizarro, Susana; Simões, Ana Teresa; Pierdomenico, Francesca

ABL1 tyrosine kinase inhibitors (TKI) have dramatically improved the outcome for chronic myeloid leukaemia (CML) patients, resulting in a life expectancy that approaches that of the general population. Nevertheless, lifelong TKI therapy may have consequences, including chronic adverse events that can substantially impact patients’ quality of life, adherence to therapy and treatment success. Recently, several cl...


Mechanisms of Resistance to BCR-ABL Kinase Inhibitors

Diamond, Joana; da Silva, Maria Gomes

Since the introduction of imatinib mesylate for the treatment of chronic myeloid leukaemia, impressive clinical responses were observed in the majority of patients in chronic phase. However, not all patients experience an optimal response to imatinib mesylate or even to the more potent, second generation tyrosine kinase inhibitors. Furthermore, responses are not sustained in a number of patients, and it is yet ...

Date: 2013   |   Origin: Acta Médica Portuguesa

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