7 documents found, page 1 of 1
DICER1 and DGCR8 in thyroid tumorigenesis: miRNA biogenesis and histopathologic...
Rodrigues, Lia; Martins, Rui Sousa; Máximo, Valdemar; Soares, Paula; Vinagre, João; Nosé, Vânia; Canberk, Sule; Rodrigues, LiaThis review examines the emerging roles of DICER1 and DGCR8, key components of the miRNA biogenesis pathway, in thyroid pathogenesis, with a particular focus on their association with oncocytic morphology. Recent findings have expanded our understanding of DICER1 syndrome and DGCR8-related thyroid disorders, revealing a broader spectrum of thyroid lesions associated with mutations in these genes than previously...
Unraveling the significance of DGCR8 and miRNAs in thyroid carcinoma
Rodrigues, Lia; Paula, Arnaud Da Cruz; Soares, Paula; Vinagre, JoãoMicroRNAs (miRNAs) act as negative regulators for protein-coding gene expression impacting cell proliferation, differentiation, and survival. These miRNAs are frequently dysregulated in cancer and constitute classes of blood-based biomarkers useful for cancer detection and prognosis definition. In thyroid cancer (TC), the miRNA biogenesis pathway plays a pivotal role in thyroid gland formation, ensuring proper ...
Exploring the genetic links between voltage-gated potassium channels and famili...
Teixeira, Elisabete; Rodrigues, Lia; Cardoso, Marta; Fernandes, Cláudia; Paula, Arnaud da Cruz; Lima, Raquel; Ferreira, Marta; Martins, TeresaOur team identified a family where 5 elements developed thyroid cancer between the ages of 26 and 38. Since no syndromic form of the disease was found, the diagnosis was of familial non-medullary thyroid carcinoma (FNMTC). Our team employed Whole-Exome Sequencing (WES) and identified a new potentially pathogenic germline mutation in the KCNB2 gene [ p.(Gly106Arg)]. KCNB2 encodes a voltage-gated potassium channe...
Generation of an obese diabetic mouse model upon conditional Atrx disruption
Gaspar, Tiago Bordeira; Jesus, Tito Teles; Azevedo, Maria Teresa; Macedo, Sofia; Soares, Mariana Alves; Martins, Rui Sousa; Leite, Rúben; Rodrigues, LiaATRX 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. Homo...
DGCR8 microprocessor subunit mutation and expression deregulation in thyroid le...
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 syndr...
Desenvolvimento psicomotor de grandes prematuros
Ferreira, Sofia; Fontes, Natacha; Rodrigues, Lia; Gonçalves, Cláudia; Lopes, Maria Manuel; Rodrigues, NádiaIntrodução: Nas últimas décadas, a melhoria dos cuidados de saúde perinatais, refletiu-se numa significativa diminuição da mortalidade associada à prematuridade. No entanto, esta diminuição não se acompanhou de forma proporcional da redução de morbilidade, particularmente a nível do neurodesenvolvimento. Objectivos: Avaliar o desenvolvimento psicomotor (DPM) de grandes prematuros, identificar perturbações do ne...
Tumefacção escrotal: necessidade de uma avaliação urgente
Portugal, Vanessa; Rodrigues, Lia; Silva, Conceição; Ramos, Sandra; Bom Sucesso, Maria; Maia Ferreira, AnaOs tumores testiculares são a sétima neoplasia mais frequente na criança e representam aproximadamente 1% dos tumores malignos da infância. Relata-se o caso de um rapaz de dezasseis meses, enviado ao serviço de urgência por tumor escrotal esquerdo, com quinze dias de evolução. Ao exame objectivo apresentava tumefacção escrotal com3,5 centímetros demaior diâmetro, consistência dura, indolor à palpação, sem sinai...