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Germline cdh1 g212e missense variant: Combining clinical, in vitro and in vivo ...

Figueiredo, J; Mercadillo, F; Melo, S; Barroso, A; Gonçalves, M; Díaz-Tasende, J; Carneiro, P; Robles, L; Colina, F; Ibarrola, C; Perea, J

E-cadherin, encoded by CDH1, is an essential molecule for epithelial homeostasis, whose loss or aberrant expression results in disturbed cell–cell adhesion, increased cell invasion and metas-tasis. Carriers of CDH1 germline mutations have a high risk of developing diffuse gastric cancer and lobular breast cancer, associated with the cancer syndrome Hereditary Diffuse Gastric Cancer (HDGC). The ubiquitous availa...


A machine learning approach for single cell interphase cell cycle staging

Narotamo, H; Fernandes, MS; Moreira, AM; Melo, S; Seruca, R; Silveira, M; Sanches, JM

The cell nucleus is a tightly regulated organelle and its architectural structure is dynamically orchestrated to maintain normal cell function. Indeed, fluctuations in nuclear size and shape are known to occur during the cell cycle and alterations in nuclear morphology are also hallmarks of many diseases including cancer. Regrettably, automated reliable tools for cell cycle staging at single cell level using in...


The Extracellular Matrix: An Accomplice in Gastric Cancer Development and Progr...

Moreira, AM; Pereira, J; Melo, S; Fernandes, MS; Carneiro, P; Seruca, R; Figueiredo, J

The extracellular matrix (ECM) is a dynamic and highly organized tissue structure, providing support and maintaining normal epithelial architecture. In the last decade, increasing evidence has emerged demonstrating that alterations in ECM composition and assembly strongly affect cellular function and behavior. Even though the detailed mechanisms underlying cell-ECM crosstalk are yet to unravel, it is well estab...


E-cadherin signal sequence disruption: A novel mechanism underlying hereditary ...

Figueiredo, J; Melo, S; Gamet, K; Godwin, T; Seixas, S; Sanches, J; Guilford, P; Seruca, R

The aim of this study was to uncover the pathogenic relevance and the underlying molecular mechanism of a novel CDH1 variant found in a Hereditary Diffuse Gastric Cancer family (p.L13_L15del), which affects the signal peptide of E-cadherin without changing the remaining predicted sequence. We verified that p.L13_L15del cells yield low levels of E-cadherin, decreased cell adhesion and enhanced cell invasion. Fur...


Geometric compensation applied to image analysis of cell populations with morph...

Figueiredo, J; Rodrigues, I; Ribeiro, J; Fernandes, MS; Melo, S; Sousa, B; Paredes, J; Seruca, R; Sanches, J

Immunofluorescence is the gold standard technique to determine the level and spatial distribution of fluorescent-tagged molecules. However, quantitative analysis of fluorescence microscopy images faces crucial challenges such as morphologic variability within cells. In this work, we developed an analytical strategy to deal with cell shape and size variability that is based on an elastic geometric alignment algo...


Perturbação Obsessivo-Compulsiva e Vinculação

Perestrelo, J; Melo, S; Mendes, G; Lapa, G

Introdução: A teoria da vinculação pretende explicar de que forma as disposições biológicas e as experiências precoces predispõem o indivíduo à saúde mental ou à patologia. Objetivos: Reportar um caso de Perturbação Obsessivo-Compulsiva num jovem com padrão de vinculação ansiosa, realizando uma revisão da literatura sobre a associação entre as duas entidades. Métodos: É apresentado um caso clínico de um jovem c...


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