Browsing by Author "Martiniano, H."
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- 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.
- Autism Spectrum Disorder: gene variants involved in the nonsense-mediated mRNA decay pathwayPublication . Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Rasga, C.; Oliveira, G.; Romão, L.; Vicente, A.M.No abstract available
- Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spectrum DisorderPublication . 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.
- miRNA and lncRNA gene variants in Autism Spectrum DisorderPublication . 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 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.
- Regulatory RNAs in Autism Spectrum DisorderPublication . 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.
- Regulatory RNAs targeted by Copy Number Variation in Autism Spectrum DisorderPublication . Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Asif, M.S.; 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 ~50-80% of the familial ASD risk but most of the genetic determinants are still not known. Several copy number variants (CNVs) targeting ASD candidate genes explain some ASD cases. Still, further exploration of noncoding RNAs targeted by CNVs is necessary. 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. Thus, they are strong candidates for ASD. The goal of this work is to identify miRNA and lncRNA genes targeted by CNVs in a cohort of ASD patients and examine their target genes and biological pathways. Methods: We compared the frequency of miRNA and lncRNA genes targeted by CNVs in a cohort of 2446 ASD subjects and 9649 ancestry-matched control subjects. Genetic data from ASD patients was obtained from the Autism Genome Project and the control group from the Database of Genomic Variant (DGV). Both cases and controls were quantified using the same detection method. AGP data was transformed to hg19 annotation followed by functional annotation using the most recent dataset from MIRBASE. Statistical analysis was performed using Fisher’s exact test followed by Bonferroni correction (p-value<0.05). Results: We found 9 miRNAs exclusively targeted by CNVs in ASD subjects and 7 miRNAs more frequently targeted by CNVs in ASD subjects, when compared to controls. From these, only 2 were already known to be associated with ASD. Interestingly, we identified 4 novel miRNAs associated with ASD that were previously described to be associated with Schizophrenia, a disorder that presents some phenotypic overlap with ASD. Putative targets of these 16 miRNAs were enriched for ASD risk genes described in SFARI database. Gene enrichment analysis indicates that these genes are involved in neurodevelopmental processes, which is consistent with literature. In addition, we also found 102 novel lncRNAs more frequently targeted by CNVs in ASD. Discussion: These results support our hypothesis that genetic variants targeting noncoding regulatory RNAs are involved in ASD pathophysiology. This innovative approach will allow the identification of novel biomarkers and drug targets in ASD, which can contribute to a better diagnosis and treatment.
- 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.
- SARS-CoV-2 introductions and early dynamics of the epidemic in PortugalPublication . Borges, V.; Isidro, J.; Trovão, N.S.; Duarte, S.; Cortes-Martins, H.; Martiniano, H.; Gordo, I.; Leite, R.; Vieira, L.; Portuguese network for SARS-CoV-2 genomics (Consortium); Guiomar, R.; Gomes, J.P.Background: Genomic surveillance of SARS-CoV-2 in Portugal was rapidly implemented by the National Institute of Health in the early stages of the COVID-19 epidemic, in collaboration with more than 50 laboratories distributed nationwide. Methods: By applying recent phylodynamic models that allow integration of individual-based travel history, we reconstructed and characterized the spatio-temporal dynamics of SARS-CoV-2 introductions and early dissemination in Portugal. Results: We detected at least 277 independent SARS-CoV-2 introductions, mostly from European countries (namely the United Kingdom, Spain, France, Italy, and Switzerland), which were consistent with the countries with the highest connectivity with Portugal. Although most introductions were estimated to have occurred during early March 2020, it is likely that SARS-CoV-2 was silently circulating in Portugal throughout February, before the first cases were confirmed. Conclusions: Here we conclude that the earlier implementation of measures could have minimized the number of introductions and subsequent virus expansion in Portugal. This study lays the foundation for genomic epidemiology of SARS-CoV-2 in Portugal, and highlights the need for systematic and geographically-representative genomic surveillance.