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Gene expression profiling and association studies implicate the neuregulin sign...

Xavier, Joana M; Krug, Tiago; Davatchi, Fereydoun; Shahram, Farhad; Fonseca, Benedita V.; Jesus, Gorete; Barcelos, Filipe; Vedes, Joana; Salgado, Manuel

Behçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched contro...


Convergence of miRNA expression profiling, α-synuclein interacton and GWAS in P...

Martins, Madalena; Rosa, Alexandra; Guedes, Leonor C.; Fonseca, Benedita V.; Gotovac, Kristina; Violante, Sara; Mestre, Tiago; Coelho, Miguel

miRNAs were recently implicated in the pathogenesis of numerous diseases, including neurological disorders such as Parkinson’s disease (PD). miRNAs are abundant in the nervous system, essential for efficient brain function and play important roles in neuronal patterning and cell specification. To further investigate their involvement in the etiology of PD, we conducted miRNA expression profiling in peripheral b...


Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese pat...

Rosa, Alexandra; Fonseca, Benedita V.; Krug, Tiago; Manso, Helena; Gouveia, Liliana; Albergaria, Isabel; Gaspar, Gisela; Correia, Manuel

Background: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to ...


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