4 documents found, page 1 of 1
Diminuição da expressão dos genes APP e CP em doentes de Alzheimer sugere alter...
Cláudia, Guerreiro; Bruno, Silva; Crespo, Ângela C.; Marques, Liliana; Costa, Sónia; Timóteo, Ângela; Marcelino, Erica; Maruta, CarolinaRecentemente tem-se assistido a um acumular de evidência sugerindo a implicação de uma desregulação do metabolismo do ferro (Fe) na fisiopatologia da doença de Alzheimer (DA). Neste trabalho, pretendemos esclarecer melhor os mecanismos moleculares subjacentes à homeostasia deste metal na DA, particularmente ao nível do efluxo celular. Assim, mediu-se em células mononucleares do sangue periférico de 73 doentes c...
Decrease in APP and CP mRNA expression supports impairment of iron export in Al...
Guerreiro, Cláudia; Silva, Bruno; Crespo, Ângela; Marques, Liliana; Costa, Sónia; Timóteo, Ângela; Marcelino, Erica; Maruta, Carolina; Vilares, ArmindaAlzheimer's disease (AD) is a neurodegenerative disorder of still unknown etiology and the leading cause of dementia worldwide. Besides its main neuropathological hallmarks, a dysfunctional homeostasis of transition metals has been reported to play a pivotal role in the pathogenesis of this disease. Dysregulation of iron (Fe) metabolism in AD has been suggested, particularly at the level of cellular iron efflux...
FUT2: filling the gap between genes and environment in Behçet's disease?
Xavier, Joana; Sousa, Inês; Matos, Mafalda; Sobral, João; Ghaderibarmi, Fahmida; Shahram, Farhad; Nadji, Abdolhadi; Oliveira, Manuela; Shafiee, MojaradBackground Behçet’s disease (BD) is a multisystemic immune and inflammatory disorder whose aetiology remains unclear. In order to identify novel susceptibility loci, we performed the first genome-wide association study (GWAS) for BD in the Iranian population using a DNA pooling strategy. Methods Two replicate pools of 292 BD cases and of 294 age- and sex-matched controls were allelotyped in quadruplicate on the...
Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWA...
Abrantes, Patrícia; Santos, Maria M.; Sousa, Inês; Xavier, Joana M.; Francisco, Vânia; Krug, Tiago; Sobral, João; Matos, Mafalda; Martins, MadalenaSubarachnoid hemorrhage (SAH) is a life-threatening event that most frequently leads to severe disability and death. Its most frequent cause is the rupture of a saccular intracranial aneurysm (IA), which is a blood vessel dilation caused by disease or weakening of the vessel wall. Although the genetic contribution to IA is well established, to date no single gene has been unequivocally identified as responsible...