Lia Rodrigues

Pan-cancer characterization of RET structural variants reveals recurrent architectures and lineage-specific clinicogenomic patterns

Rui Sousa Martins, Miguel S. Castanho, Lia Rodrigues, Tito T. Jesus et autres

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Genetic landscape of thyroid neoplasms: deciphering recurrent RAS-like mutations and evolution of multifocal tumorigenesis

Lia Rodrigues, Pier Selenica, Britta Weigelt, Paula Soares et autres

CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors

Tito T. Jesus, Lorenzo Ferrando, Lia Rodrigues, Rui Sousa Martins et autres

Despite improvements in the molecular profiling of pancreatic neuroendocrine tumors (PanNETs), predicting their clinical behavior and response to specific therapies remains challenging. We sought to elucidate the molecular basis underlying the broad phenotypic variations in these neoplasms through a genetic characterization of …

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DICER1 and DGCR8 in thyroid tumorigenesis: miRNA biogenesis and histopathologic diversity

Lia Rodrigues, Rui C. Martins, Valdemar Máximo, Paula Soares et autres

This 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 …

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Exploring the genetic links between voltage-gated potassium channels and familial non-medullary thyroid carcinoma: a family study

Elisabete Teixeira, Lia Rodrigues, Marta Cardoso, Cláudia Fernandes et autres

Unraveling the Significance of DGCR8 and miRNAs in Thyroid Carcinoma

Lia Rodrigues, Arnaud Da Cruz Paula, Paula Soares, João Vinagre

MicroRNAs (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 …

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Generation of an Obese Diabetic Mouse Model upon Conditional Atrx Disruption

Tiago Bordeira Gaspar, Tito T. Jesus, Maria Teresa Azevedo, Sofia Macedo et autres

Atrx loss was recently ascertained as insufficient to drive pancreatic neuroendocrine tumour (PanNET) formation in mice islets. We have identified a preponderant role of Atrx in the endocrine dysfunction in a Rip-Cre;AtrxKO genetically engineered mouse model (GEMM). To validate the impact of …

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DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions

Lia Rodrigues, Şule Canberk, Sofia Macedo, Paula Soares et autres

DGCR8 emerged recently as miRNAs biogenesis pathway protein with a highlighted role in thyroid disease. This study aimed to characterize this miRNA biogenesis component, in particular the p.(E518K) mutation and DGCR8 expression in a series of thyroid lesions. The series of thyroid …

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DGCR8 microprocessor defect and deregulation of its expression in thyroid cancer

Lia Rodrigues, Carolina Dias, Sofia Macedo, Paula Soares et autres

Abstract Background The alteration of microRNA (miRNA) processing is a driver event in several tumors including thyroid cancer (TC). Upon the discovery of DICER mutations affecting the miRNA biogenesis in TC, other genes encoding proteins with similar functions have been studied. The …

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