Percorrer por autor "Marques, A.R."
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- Adapting the early life exposure assessment tool (ELEAT) to Portugal: a pilot study to tackle gene-environment interactions in autism spectrum disorderPublication . Rasga, C.; Santos, J.; Lopes, A.L.; Marques, A.R.; Vilela, J.; Asif, M.; Walker, C.K.; Schmidt, R.J.; Vicente, A.M.The objective was to pilot a Portuguese version of the Early Life Exposure Assessment Tool (ELEAT) for the assessment of the role of environmental exposures in a population of Portuguese children with ASD.
- An integrative system biology approach for dissecting Autism Spectrum DisorderPublication . Asif, M.; Rasga, C.; Martiniano, H.; Santos, J.X.; Marques, A.R.; Couto, F.M .; Vicente, A.M.Autism Spectrum Disorder (ASD) is characterized by a wide spectrum of behavioral presentation. Many genetic factors are implicated in ASD, however their role in the heterogeneous ASD phenotype remains elusive. Using data mining-based integrative approaches, we seek to identify patterns of association between ASD phenotypic subgroups and altered biological processes inferred from CNVs targeting brain genes.
- CNVs targeting genes that regulate exposure to toxicants in Autism Spectrum Disorder (ASD): a role for gene-environment interactionsPublication . Santos, J.X.; Rasga, C.; Asif, M.; Marques, A.R.; Vicente, A.M.Objective: Our overall goal is to identify genes involved in detoxification and regulation of barrier permeability processes that can mediate the effect of exposure to toxicants in individuals with ASD. For this purpose, we screened large ASD and control datasets for CNVs targeting selected detoxification and barrier permeability genes.
- Regulatory RNA genes are targeted by Copy Number Variation in Autism Spectrum DisorderPublication . Marques, A.R.; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Romão, L.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with an unclear etiology. Genetic factors are estimated to account for 50 to 80% of the familial ASD risk, but most of the genetic determinants are still not known and a role for epigenetic factors is likely. The involvement of noncoding RNAs in ASD is, so far, insufficiently explored. MicroRNA (miRNA) and long noncoding RNA (lncRNA) are regulatory molecules, abundantly expressed in the brain, that play an important role during early stages of neural development. In this work we sought to address their potential role as ASD candidates, by identifying Copy Number Variants (CNVs) targeting miRNA and lncRNA genes in a large cohort of ASD patients, and examined their target genes and biological pathways.
- A role for gene-environment interactions in Autism Spectrum Disorder is suggested by an excess of potentially pathogenic variants in genes regulating exposure to toxicantsPublication . Santos, J.X.; Marques, A.R.; Rasga, C.; Asif, M.; Vilela, J.; Martiniano, H.; Oliveira, G.; Nunes, A.; Vicente, A.M.Objective: Identify potentially pathogenic CNVs and SNVs targeting genes involved in regulation of toxins exposure, namely in detoxification processes and physiological permeability barriers (blood-brain barrier and placenta), in individuals with ASD.