Browsing by Author "Macedo, Sofia"
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- DGCR8 microprocessor subunit mutation and expression deregulation in thyroid lesionsPublication . Rodrigues, Lia; Canberk, Sule; Macedo, Sofia; Soares, Paula; Vinagre, JoãoDeregulation of microRNA (miRNA) processing is a driver event in several tumours including thyroid cancer. DiGeorge Critical Region 8 (DGCR8) gene holds a critical role in miRNA biogenesis, as a microprocessor complex component, and in the development of the thyroid. Previous studies identified a DGCR8 mutation – the variant c.1552G>A p.(E518K) – in cases of thyroid cancer and proposed to cause a familial syndrome characterized by multinodular goitre (MNG) and schwannomatosis. The goal of this study was to characterize the variant p.(E518K) of DGCR8 in thyroid lesions and evaluate its expression.
- Generation of an obese diabetic mouse model upon conditional Atrx disruptionPublication . Gaspar, Tiago Bordeira; Jesus, Tito Teles; Azevedo, Maria Teresa; Macedo, Sofia; Soares, Mariana Alves; Martins, Rui Sousa; Leite, Rúben; Rodrigues, Lia; Rodrigues, Daniela Ferreira; Cardoso, Luís; Borges, Inês; Canberk, Sule; Gärtner, Fátima; Miranda-Alves, Leandro; Lopes, José Manuel; Soares, Paula; Vinagre, JoãoATRX mutations occur in up to 17% of human pancreatic neuroendocrine tumours (PanNETs), and recent evidence points towards its inability to drive PanNET formation in mouse pancreas while predisposing individuals to inflammageing. Aiming to explore the additional non-tumourigenic consequences of Atrx deletion, we characterised an aged series of Atrx conditional disruption in β cells using the Pdx1 promoter. Homozygous mice (P.AtrxHOM) exhibited obesity, diabetes, glucose intolerance, and pancreatic adiposity at a higher extent than age- and sex-matched controls (P.AtrxWT).
- High VEGFA expression Is associated with improved progression-free survival after Bevacizumab treatment in recurrent GlioblastomaPublication . Alves, Bárbara; Peixoto, Joana; Macedo, Sofia; Pinheiro, Jorge; Carvalho, Bruno; Soares, Paula; Lima, Jorge; Lima, Raquel T.Glioblastoma (GB) is a deadly tumor that demands for relevant biomarkers, particularly regarding patients’ response to treatment. MMP-2, MMP-9, VEGFA, and YKL40 are important molecules, given their implication in the infiltrative and angiogenic phenotype of GBs. The purpose of this study was to assess the relationship between the expression of MMP-2, MMP-9, VEGFA, and YKL40 in GB tissues and the patients’ response to temozolomide (first-line treatment) or bevacizumab (second-line treatment). Our results showed that increased VEGFA is significantly associated with an improved response to bevacizumab, while having no correlation with the response to temozolomide. Additionally, YKL40 expression may also be important regarding information about the extent of antiangiogenic treatment in GB patients.