42 documents found, page 1 of 5
Neurometabolic profiles of autism spectrum disorder patients with genetic varia...
Vilela, Joana; Pereira, Andreia C.; Violante, Inês R.; Mouga, Susana; Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana RitaAutism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impaired social interaction, and restricted and repetitive patterns of behavior. ASD presents as a clinical spectrum, with variable levels of severity and multiple co-occurring conditions. The etiology of ASD may involve hundreds of genes and there is evidence that neurotransmitter and synaptic (NS) pathways are implicated. Proton...
Análise de uma rede de similaridade genética entre a perturbação do espetro do ...
Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid MouraA Perturbação do Espetro do Autismo (PEA) é uma perturbação do neurodesenvolvimento com apresentação clínica heterogénea, nível de gravidade variável e ocorrência de múltiplas comorbilidades. A PEA tem uma arquitetura genética complexa que se reflete na sua heterogeneidade clínica, existindo evidência de uma sobreposição de genes alterados entre esta condição e diversas comorbilidades do foro neurológico e neur...
Role of neurotransmission and synaptic processes in Autism Spectrum Disorder
Vilela, JoanaAutism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by deficits in social communication and interaction and repetitive, restricted behaviors. Individuals with ASD may present a variety of clinical and behavioral symptoms, as well as a number of comorbidities, leading to variable degrees of clinical severity. ASD segregate in families and genetics has a significant contrib...
Bridging genetic insights with neuroimaging in Autism Spectrum Disorder — A sys...
Vilela, Joana; Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana Rita; Oliveira, Guiomar; Vicente, Astrid Moura; Maria Rasga, CéliaAutism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques t...
Disease similarity network analysis of Autism Spectrum Disorder and comorbid br...
Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid MouraBackground/Objectives: Autism Spectrum Disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder , with variable severity and multiple comorbidities. Given the previous evidence of genetic overlap between ASD and several comorbid brain disorders, we sought to explore the genetic similarity with ASD across a range of brain disorders, using a genetic similarity disease network approach. Methods: We...
Identification of Neurotransmission and Synaptic Biological Processes Disrupted...
Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João Xavier; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid MouraAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; however, the genetic architecture of this disease is far from clear. In this study, we seek to clarify the biological processes affected by NS gene variants identif...
Biomedical knowledge graph embeddings for personalized medicine: Predicting dis...
Vilela, Joana; Asif, Muhammad; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Vicente, Astrid; Martiniano, HugoPersonalized medicine is a concept that has been subject of increasing interest in medical research and practice in the last few years. However, significant challenges stand in the way of practical implementations, namely in regard to extracting clinically valuable insights from the vast amount of biomedical knowledge generated in the last few years. Here, we describe an approach that uses Knowledge Graph Embed...
A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Support...
Santos, João Xavier; Rasga, Célia; Marques, Ana Rita; Martiniano, Hugo; Asif, Muhammad; Vilela, Joana; Oliveira, Guiomar; Sousa, Lisete; Nunes, AnaHeritability estimates support the contribution of genetics and the environment to the etiology of Autism Spectrum Disorder (ASD), but a role for gene-environment interactions is insufficiently explored. Genes involved in detoxification pathways and physiological permeability barriers (e.g., blood-brain barrier, placenta and respiratory airways), which regulate the effects of exposure to xenobiotics during earl...
Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism...
Marques, Ana Rita; Santos, João Xavier; Martiniano, Hugo; Vilela, Joana; Rasga, Célia; Romão, Luísa; Vicente, Astrid MouraAutism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with unclear etiology. Many genes have been associated with ASD risk, but the underlying mechanisms are still poorly understood. An important post-transcriptional regulatory mechanism that plays an essential role during neurodevelopment, the Nonsense-Mediated mRNA Decay (NMD) pathway, may contribute to ASD risk. In this study, we gat...
Perturbação do espectro do autismo: identificação de variantes em genes envolvi...
Marques, Ana Rita; Santos, João Xavier; Martiniano, Hugo; Vilela, Joana; Rasga, Célia; Romão, Luísa; Vicente, Astrid MouraA Perturbação do Espectro do Autismo (PEA) é uma patologia do neurodesenvolvimento caracterizada por dificuldades de socialização e/ou comunicação e por comportamentos estereotipados e repetitivos. Estudos de heritabilidade indicam que fatores genéticos contribuem para 50-80% do risco de desenvolver PEA, mas os mecanismos genéticos não são bem conhecidos. Neste estudo, exploramos a contribuição para o risco de ...