4 documents found, page 1 of 1
Assessment of a Large-Scale Unbiased Malignant Pleural Effusion Proteomics Stud...
Zahedi, S; Carvalho, AS; Ejtehadifar, M; Beck, HC; Rei, N; Luís, A; Borralho, P; Bugalho, A; Matthiesen, RBackground: Pleural effusion (PE) is common in advanced-stage lung cancer patients and is related to poor prognosis. Identification of cancer cells is the standard method for the diagnosis of a malignant PE (MPE). However, it only has moderate sensitivity. Thus, more sensitive diagnostic tools are urgently needed. Methods: The present study aimed to discover potential protein targets to distinguish malignant pl...
Impairment of Adenosinergic System in Rett syndrome: Novel Therapeutic Target t...
Miranda-Lourenço, C; Duarte, ST; Palminha, C; Gaspar, C; Rodrigues, TM; Magalhães-Cardoso, T; Rei, N; Colino-Oliveira, M; Gomes, R; Ferreira, S; Rosa, JRett syndrome (RTT; OMIM#312750) is mainly caused by mutations in the X-linked MECP2 gene (methyl-CpG-binding protein 2 gene; OMIM*300005), which leads to impairments in the brain-derived neurotrophic factor (BDNF) signalling. The boost of BDNF mediated effects would be a significant breakthrough but it has been hampered by the difficulty to administer BDNF to the central nervous system. Adenosine, an endogenou...
IL10 Low-Frequency Variants in Behçet's Disease Patients
Matos, M; Xavier, JM; Abrantes, P; Sousa, I; Rei, N; Davatchi, F; Shahram, F; Jesus, G; Barcelos, F; Vedes, J; Salgado, Manuel; Abdollahi, B; Nadji, ATo explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility.
Identification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparentl...
Cavaco, B; Santos, R; Félix, A; Carvalho, D; Lopes, JM; Domingues, R; Sirgado, M; Rei, N; Fonseca, F; Santos, J; Sobrinho, L; Leite, VThe diagnosis of parathyroid carcinomas is often difficult. HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors. In this study, we report the clinical, histopathological, and genetic investigation of two unrelated cases, whom had apparently sp...