2 documents found, page 1 of 1
High-throughput sequencing identifies 3 novel susceptibility genes for heredita...
Campos, C; Fragoso, S; Luís, R; Pinto, F; Brito, C; Esteves, S; Pataco, M; Santos, S; Machado, P; Vicente, JB; Rosa, JC; Cavaco, BM; Moura, C; Pojo, MCutaneous melanoma is one of the most aggressive human cancers due to its high invasiveness. Germline mutations in high-risk melanoma susceptibility genes have been associated with development hereditary melanoma; however, most genetic culprits remain elusive. To unravel novel susceptibility genes for hereditary melanoma, we performed whole exome sequencing (WES) on eight patients with multiple primary melanoma...
Pyruvate Dehydrogenase Complex Deficiency: Updating the Clinical, Metabolic and...
Pavlu-Pereira, H; Silva, MJ; Florindo, C; Sequeira, S; Ferreira, AC; Duarte, S; Rodrigues, AL; Janeiro, P; Oliveira, A; Gomes, D; Bandeira, ABackground: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic informatio...