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.
The westernmost occurrence of Caulerpa prolifera on the Atlantic European coast has been accepted in recent decades, to be Huelva province, southern Spain. In April 2011, this species was found in Ria Formosa, southern Portugal, extending its westernmost limit along the Iberian Peninsula coastline. In the course of research into this species it was discovered that this alga had been found in Ria Formosa in the ...
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stage...
The bioactivity of natural antioxidants from plant extracts is well known. Still, the effectiveness of these natural antioxidants, namely polyphenols, depends on preserving their stability, which can be increased by microencapsulation. The aim of this study was to protect natural antioxidants from the aqueous extract of Portuguese wild herb Pterospartum tridentatum by encapsulation in alginate hydrogel microbea...
Germline mutations in the WNK4 gene originate Gordon syndrome or pseudohypoaldosteronism type II, a familial form of hypertension with hyperkalemia and hypercalciuria. The WNK4 protein encodes a protein kinase involved in the regulation of various renal ion channels. In order to elucidate the contribution of WNK4 genetic variants to hypertension and/or osteoporosis, we analyzed 271 control individuals and a coh...
Evolução tecnológica e aumento da demanda por energia; Da máquina a vapor ao automóvel e ao uso dos combustíveis fósseis; Agroenergia e bioenergia; Distinguindo bioenergia de agroenergia; Agroenergia no Brasil; A produção de etanol; Primórdios de um combustível nacional; O Instituto do açúcar e do álcool (IAA); O álcool-motor; Identidade nacional e dinamismo na economia; O Proálcool; A produção de biodiesel; Ag...
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