4 documents found, page 1 of 1
Mitochondrial Alterations in Fibroblasts of Early Stage Bipolar Disorder Patients
Marques, AP; Resende, R; Silva, DF; Batista, M; Pereira, D; Wildenberg, B; Morais, S; Macedo, A; Pais, C; Melo, JB; Madeira, N; Pereira, CFThis study aims to evaluate whether mitochondrial changes occur in the early stages of bipolar disorder (BD). Using fibroblasts derived from BD patients and matched controls, the levels of proteins involved in mitochondrial biogenesis and dynamics (fission and fusion) were evaluated by Western Blot analysis. Mitochondrial membrane potential (MMP) was studied using the fluorescent probe TMRE. Mitochondrial morph...
Early detection and personalized treatment in oral cancer: the impact of omics ...
Ribeiro, IP; Barroso, L; Marques, F; Melo, JB; Carreira, IMBACKGROUND: Oral cancer is one of the most common malignant lesions of the head and neck. This cancer is an aggressive and lethal disease with no significant improvements in the overall survival in the last decades. Moreover, the incidence of oral HPV-positive tumors is rising, especially in young people. This oral neoplasm develops through numerous molecular imbalances that affect key genes and signaling pathw...
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with la...
Matoso, E; Ramos, F; Ferrão, J; Pires, LM; Mascarenhas, A; Melo, JB; Carreira, IMWe report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome pat...
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv d...
Carreira, IM; Melo, JB; Rodrigues, C; Backx, L; Vermeesch, J; Weise, A; Kosyakova, N; Oliveira, G; Matoso, EBACKGROUND: Inverted duplications (inv dup) of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. Associated mosaicism could be the consequence of a post-zygotic event or could result from the correction of a trisomic conception. Tetrasomies of distal segments of the chromosome 3q are rare ge...