10 documents found, page 1 of 1
Definition of a putative pathological region in PARK2 associated with autism sp...
Conceição, I.C.; Rama, M.M.; Oliveira, B.; Café, C.; Almeida, J.; Mouga, S.; Duque, F.; Oliveira, G.; Vicente, A.M.Objective: The PARK2 gene encodes Parkin, a component of a multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation. PARK2 mutations are frequently associated with Parkinson’s disease, but structural alterations have also been described in patients with neurodevelopmental disorders (NDD), suggesting a pathological effect ubiquitous to neurodevelopmental and neurodegen...
Expression Profile of Circulating miRNAs in Autism Spectrum Disorders
Rodrigues, A.C.; Conceição, I.C.; Kwiatkowska, K.; Picanço, I.; Café, C.; Almeida, J.; Mouga, S.; Enguita, F.J.; Oliveira, G.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a common disorder with an heterogeneous clinical presentation and unclear etiology. Rare, highly penetrant, variants explain approximately 20% of ASD genetic liability, while common genetic factors of low effect, which combine in affected individuals to reach a pathological threshold, have not yet been identified. Epigenetic factors may additionally modulate the effect of genet...
Use of machine leaning approaches to explore genetic and phenotypic association...
Asif, M.; Conceição, I.C.; Machado, C.; Pereira, P.; Café, C.; Almeida, J.; Mouga, S.; Oliveira, G.; Couto, F.; Vicente, A.M.Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder of high complexity ASD is characterized by impaired social interaction and communication and by stereotyped behaviors, and a high heterogeneity in clinical presentation. It is hypothesized that such complex heterogeneous phenotypic behaviors are associated with genetic factors. To further dissect the complex correlations between pheno...
Convergence of genes and cellular pathways dysregulated in autism spectrum diso...
Pinto, D.; Delaby, E.; Merico, D.; Barbosa, M.; Merikangas, A.; Klei, L; Thiruvahindrapuram, B.; Xu, X.; Ziman, R.; Wang, Z.; Vorstman, J.A.Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectua...
Differential diagnosis of Autism Spectrum Disorder (ASD) by CNV detection – can...
Kwiatkowska, K.; Conceição, I.C.; Rodrigues, A.C.; Picanço, I.; Marques, I.; Melo, J.; Ferreira, S.; Café, C.; Almeida, J.; Mouga, S.; Oliveira, G.Autism Spectum Disorder (ASD) is an impairment in neurodevelopment that can be recognized in the first years of life. Symptoms are diverse and vary in severity, determining prognosis and influencing the integration in the community. ASD is characterized by difficulties in interpersonal interaction, verbal and nonverbal communication, and by uncommon interests, inappropriate and uncontrolled behaviors, and repet...
Expression Profile of Circulating miRNAs in Autism Spectrum Disorders Populatio...
Conceição, I.C.; Rodrigues, A.C.; Kwiatkowska, K.; Picanço, I.; Café, C.; Almeida, J.; Mouga, S.; Enguita, F.J.; Oliveira, G.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a common complex disorder, highly heterogeneous and with unclear etiology. While many different rare variants are known to be etiological factors for ASD, they don’t completely explain the genetic variance in this disorder, and common genetic variants could not, thus far, be identified. The possible contribution of epigenetic factors, such as deregulated miRNAs expression, shou...
The impact of the metabotropic glutamate receptor and other gene family interac...
Hadley, D.; Wu, Z.L.; Kao, C.; Kini, A.; Mohamed-Hadley, A.; Thomas, K.; Vazquez, L.; Qiu, H.; Mentch, F.; Pellegrino, R.; Kim, C.; Connolly, J.Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drugs target large gene families with multiple drug binding sites. Here we search for defective gene family interaction networks (GFINs) in 6,742 patients with the ASDs...
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Correia, C.T.; Conceição, I.C.; Oliveira, B.; Coelho, J.; Sousa, I.; Sequeira, A.F.; Almeida, J.; Café, C.; Duque, F; Mouga, S.; Roberts, W.; Gao, K.Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.
Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Eti...
Oliveira, B.A.; Correia, C.A.; Conceição, I.C.; Café, C.; Almeida, J.; Mouga, S.; Duque, F.; Oliveira, G.; Vicente, A.M.Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndromic ASD. In this study we tested the hypothesis of an enrichment in CNVs encompassing synaptic transmission genes...
Copy number variants involving components of the glutamatergic synaptic pathway...
Oliveira, B.A.; Conceição, I.C.; Correia, C.A.; Café, C.; Almeida, J.; Mouga, S.; Duque, F.; Oliveira, G.; Vicente, A.M.Copy Number Variants (CNVs) play an important role in susceptibility to Autism Spectrum Disorders (ASD), in particular when deleting or duplicating genes involved in synaptic structure and function such as glutamatergic synapse genes. Identifying CNVs of etiologic relevance for ASD that include glutamatergic genes may contribute to the understanding of glutamate-related pathogenic mechanisms in this disorder.