94 documents found, page 1 of 10
Autism Spectrum Disorder: gene variants involved in the nonsense-mediated mRNA ...
Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Rasga, C.; Oliveira, G.; Romão, L.; Vicente, A.M.No abstract available
Emissions from residential pellet combustion of an invasive acacia species
Vicente, E.D.; Vicente, A.M.; Evtyugina, M.; Carvalho, R.; Tarelho, L.A.C.; Paniagua, S.; Nunes, T.; Otero, M.; Calvo, L.F.; Alves, C.Currently, different types of raw materials are under investigation to fulfil the demand for pellet-based renewable energy. The aim of this study was to experimentally quantify and characterise the gaseous and particulate matter (PM10) emissions from the combustion of a pelletised invasive species growing in the Portuguese coastal areas. The combustion of acacia pellets in a stove used for domestic heating led ...
Identifying disease genes using machine learning and gene functional similariti...
Asif, M.; Martiniano, H.F.M.C.M.; Vicente, A.M.; Couto, F.M.Identifying disease genes from a vast amount of genetic data is one of the most challenging tasks in the post-genomic era. Also, complex diseases present highly heterogeneous genotype, which difficult biological marker identification. Machine learning methods are widely used to identify these markers, but their performance is highly dependent upon the size and quality of available data. In this study, we demons...
A role for gene-environment interactions in Autism Spectrum Disorder is suggest...
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.
Adapting the early life exposure assessment tool (ELEAT) to Portugal: a pilot s...
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.
miRNA and lncRNA gene variants in Autism Spectrum Disorder
Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Enguita, F.J.; Romão, L.; Vicente, A.M.Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder: Characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests; Median estimated prevalence worldwide is 17/10000; Male to female ratio: ~4:1; Comorbidities: intellectual disability, anxiety, epilepsy, (…).
Regulatory RNAs in Autism Spectrum Disorder
Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Enguita, F.J.; Romão, L.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder: Characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests.
Translating the complex ASD genetic architecture into clinical phenotype using ...
Asif, M.; Martiniano, Hugo F.; Rasga, Celia; Marques, Ana R.; Santos, João X.; Couto, Francisco M.; Vicente, A.M.Objective: The global objective of this study is to improve ASD diagnosis and prognosis by dissecting the complex genotype-phenotype associations using an integrative systems biology approach.
Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spe...
Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Romão, L.; Vicente, A.M.Autism Spectrum Disorder (ASD): is a neurodevelopmental disorder characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests.
An integrative system biology approach for dissecting Autism Spectrum Disorder
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.