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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

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.

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with...

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...

Efeito da congelação e armazenamento de amostras de plasma na estabilidade de e...

Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Eti...

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...

Physico-mechanical properties of chitosan films with carvacrol and grape seed e...

The physico-mechanical properties of 3 films composed by carvacrol, grape seed extract (GSE) and chitosan in different proportions were studied. The films, prepared by solvent casting technique with the following compositions of the casting solutions in carvacrol, GSE and chitosan: film-1: 9.6 ppm–684 ppm–1.25% w/v, film-2: 60 ppm–400 ppm–1.2% w/v and film-3: 90 ppm–160 ppm–1.24% w/v and were compared to a cont...

Continuous-flow precipitation of hydroxyapatite in ultrasonic microsystems

This paper describes the continuous-flow precipitation of hydroxyapatite Ca5(PO4)3OH (HAp) in two ultrasonic microreactors using diluted aqueous solutions of calcium and phosphate at 37 °C. Precipitation of HAp was first carried out in a tubular microreactor immersed in an ultrasonic bath, where single-phase (laminar) flow and segmented gas-liquid flow were both evaluated. The single-phase flow study was then c...

Biorefinery valorization of autohydrolysis wheat straw hemicellulose to be appl...

The aims of this study were the extraction of hemicellulose from wheat straw (WS) and its utilization in the reinforcement of a κ-carrageenan/locust bean gum (κ-car/LBG) polymeric blend films (PBFs). WS hemicellulose extraction was performed under autohydrolysis process and hemicellulose extracted (HE) under optimum condition was used in PBFs. PBFs were prepared varying different proportions of HE into the κ-ca...

Inulin potential for encapsulation and controlled delivery of Oregano essential...

The ability of inulin, a prebiotic material, as encapsulation matrix was explored. Microcapsules of Raftiline were produced by spray drying inulin solutions at different solids content (5, 15 and 25%) at 120, 155 and 190 °C, according to a Central Composite Rotatable design. Produced capsules were analysed for morphology and size by SEM and physiochemical characterized by DSC, IR and RAMAN. Oregano essential oi...

Utilization of galactomannan from Gleditsia triacanthos in polysaccharide-based...

The objective of this work was to evaluate the effect of the concentrations of Gleditsia triacanthos galactomannan and glycerol and the presence of corn oil in the physical properties of edible films. The influence of interactions between those constituents on films' permeability to gases (water vapour, CO2 and O2), solubility in water, mechanical properties and colour was evaluated. The effects of those variab...

Effect of whey protein purity and glycerol content upon physical properties of ...

This manuscript describes the detailed characterization of edible films made from two different protein products e whey protein isolate (WPI) and whey protein concentrate (WPC), added with three levels of glycerol (Gly) e i.e. 40, 50 and 60%(w/w). The molecular structure, as well as barrier, tensile, thermal,surface and optical properties of said films were determined, in attempts to provide a better understand...