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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.
Vestida de vermelho – um caso de reação medicamentosa
Melo, C; Almeida, F; Lopes, S; Teixeira, P; Barbosa, C; Sequeira, A; Miguel, CRESUMO Introdução: As reações de hipersensibilidade a fármacos podem limitar-se a um exantema cutâneo não específico, ou manifestar-se por um síndrome multissistémico, com prognóstico muito variável, como é o caso do síndrome DRESS (Drug Reaction with Eosinophilia and Systemic Symptoms). Caso clínico: Os autores apresentam o caso clínico de uma menina admitida no Serviço de Urgência por um síndrome febril pr...
Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with...
Gilling, M.; Rasmussen, H.B.; Calloe, K.; Sequeira, A.F.; Barreto, M.; Oliveira, G.; Almeida, J.; Lauritsen, M.B.; Ullmann, R.; Boonen, S.E.Heterozygous mutations in the KCNQ3 gene on chromosome 8q24 encoding the voltage-gated potassium channel KV7.3 subunit have previously been associated with rolandic epilepsy and idiopathic generalized epilepsy (IGE) including benign neonatal convulsions. We identified a de novo t(3;8) (q21;q24) translocation truncating KCNQ3 in a boy with childhood autism. In addition, we identified a c.1720C > T [p.P574S] nucl...
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Mode...
Leblond, C.S.; Heinrich, J.; Delorme, R.; Proepper, C.; Betancur, C.; Huguet, G.; Konyukh, M.; Chaste, P.; Ey, E.; Rastam, M.; Anckarsäter, H.Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we...
New insights on the Hirnantian palynostratigraphy of the rio Ceira section, Buç...
Lopes, Gilda; Vaz, Nuno; Sequeira, A. J. D.; Piçarra, J. M.; Fernandes, Paulo; Pereira, ZéliaThe Lower Palaeozoic successions of Portugal are well represented in the Central Iberian Zone (Cll), one of the main tectonostratigraphic domains of the Iberian Massif. Located in the CIZ, the Bu<;aco Syncline presents one of its most complete Palaeozoic sequences. With a NW-SE orientation, the Lower Palaeozoic lithostratigraphic succession, includes several Ordovician units that ranges from the Lower Ordovicia...
Functional impact of global rare copy number variation in autism spectrum disor...
Pinto, D.; Pagnamenta, A.T.; Klei, L.; Anney, R.; Merico, D.; Regan, R.; Conroy, J.; Magalhaes, T.R.; Correia, C.; Abrahams, B.S.; Almeida, J.The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying ge...
Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/T...
Correia, C.T.; Coutinho, A.M.; Sequeira, A.F.; Sousa, I.G.; Lourenço Venda, L.; Almeida, J.P.; Abreu, R.L.; Lobo, C.; Miguel, T.S.; Conroy, J.The brain-derived neurotrophic factor (BDNF), a neurotrophin fundamental for brain development and function, has previously been implicated in autism. In this study, the levels of BDNF in platelet-rich plasma were compared between autistic and control children, and the role of two genetic factors that might regulate this neurotrophin and contribute to autism etiology, BDNF and NTRK2, was examined. We found that...
The national inventory of geosites in Portugal
Brilha, J. B.; Alcalá, A.; Almeida, A.; Araújo, A.; Azerêdo, Ana; Azevedo, M. R.; Barriga, Fernando; Silveira, A. Brum; Cabral, J.; Cachão, M.During the last three years geoscientists of various institutions have developed a project aiming the setup of a geoconservation strategy in Portugal (Brilha, 2009). One of the main goals of the project was the establishment of an inventory of the most important Portuguese geosites, under the scientific point of view. In a near future, national authorities will consider this inventory as a technical support for...
Dados palinoestratigráficos preliminares do Gorstiano (Silúrico) da Formação de...
Lopes, Gilda; Vaz, Nuno; Sequeira, A. J. D.; Piçarra, J. M.; Fernandes, Paulo; Pereira, ZéliaNovos dados bioestratigráficos foram obtidos na sucessão estratigráfica do Paleozóico Inferior da região do Buçaco. A Formação de Sazes (Silúrico) está a ser estudada ao nível palinológico (miosporos e quitinozoários) e de macrofósseis (graptólitos), com o intuito de rever e complementar dados bioestratigráficos anteriormente descritos. Com base nos dados palinológicos, parte da Fm. de Sazes foi datada co...
Palynomorphs from the Gorstian (Silurian) of the Sazes Formation (Buçaco Syncli...
Lopes, Gilda; Vaz, Nuno; Sequeira, A. J. D.; Piçarra, J. M.; Fernandes, Paulo; Pereira, ZéliaOccuring in a complex syncline that extends from Buçaco to Penedo de Góis, the studied area is located in the Central Iberian Zone of the Iberian Massif. In this region outcrops a well-preserved and complete stratigraphic succession of Lower Paleozoic age. At the top of the Buçaco Syncline stratigraphic succession, the Silurian Sazes Formation (Paris, 1981), is currently being studied at a palynological (miospo...
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