21 documents found, page 1 of 3
Autism Spectrum Disorder: gene variants involved in the nonsense-mediated mRNA ...
Marques, Ana Rita; Martiniano, Hugo; Santos, J.X.; Vilela, Joana; Asif, M.; Rasga, C.; Oliveira, G.; Romão, Luísa; Vicente, AstridGenetic factors account for 50-80% of the familial risk of Autism Spectrum Disorder (ASD), but most of the genetic determinants are still unknown and a role for other regulatory mechanisms is likely. The nonsense-mediated decay (NMD) pathway is essential to control mRNA quality and has an important role in the regulation of the transcriptome. Mutations in genes involved in the NMD pathway, such as the UPF3B gen...
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.
miRNA and lncRNA gene variants in Autism Spectrum Disorder
Marques, Ana Rita; Martiniano, Hugo; Santos, J.X.; Vilela, Joana; Asif, M.; Oliveira, G.; Romão, Luísa; Vicente, AstridAutism Spectrum Disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder. 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. In this study we explored the potential role of noncoding RNAs in ASD by comparing the frequency of Copy Number Variants (CNVs) targeting mic...
Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spe...
Marques, Ana; Martiniano, Hugo; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Romão, Luísa; Vicente, AstridIntroduction: 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 other regulatory mechanisms is likely. The nonsense-mediated decay (NMD) pathway controls mRNA quality and plays an important role in th...
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.