Encontrados 12 documentos, a visualizar página 1 de 2
Individual common variants exert weak effects on the risk for autism spectrum d...
Anney, R.; Klei, L.; Pinto, D.; Almeida, J.; Bacchelli, E.; Baird, G.; Bolshakova, N.; Bölte, S.; Bolton, P.F.; Bourgeron, T.; Brennan, S.; Brian, J.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...
A genome-wide scan for common alleles affecting risk for autism
Anney, R.; Klei, L.; Pinto, D.; Regan, R.; Conroy, J.; Magalhaes, T.R.; Correia, C.; Abrahams, B.S.; Sykes, N.; Pagnamenta, A.T.; Almeida, J.Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ...
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...
Identification of cell-surface mannans in a virulent Helicobacter pylori strain
Ferreira, José Alexandre; Azevedo, N. F.; Vieira, M. J.; Figueiredo, C.; Goodfellow, Brian J.; Monteiro, Mário A.; Coimbra, Manuel A.With the intent of contributing to a carbohydrate-based vaccine against the gastroduodenal pathogen, Helicobacter pylori, we report here the structure of cell-surface mannans obtained from a virulent strain. Unlike other wild-type strains, this strain was found to express in good quantities this polysaccharide in vitro. Structural analysis revealed a branched mannan formed by a backbone of α-(1→6)-linked mannop...
An NMR structural study of nickel-substituted rubredoxin
Goodfellow, Brian J.; Duarte, Iven C. N.; Macedo, Anjos L.; Volkman, Brian F.; Nunes, Sofia G.; Moura, Isabel; Markley, John L.; Moura, José J. G.J Biol Inorg Chem (2010) 15:409–420 DOI 10.1007/s00775-009-0613-6 ; The Ni(II) and Zn(II) derivatives of Desulfovibrio vulgaris rubredoxin (DvRd) have been studied by NMR spectroscopy to probe the structure at the metal centre. The βCH2 proton pairs from the cysteines that bind the Ni(II) atom have been identified using 1D nuclear Overhauser enhancement (NOE) difference spectra and sequence specifically assign...
Metabolite Profiling of Human Amniotic Fluid by Hyphenated Nuclear Magnetic Res...
Graça, Gonçalo; Duarte, Iola F.; Goodfellow, Brian J.; Carreira, Isabel M.; Couceiro, Ana Bela; Domingues, Maria do Rosário; Spraul, ManfredThe metabolic profiling of human amniotic fluid (HAF) is of potential interest for the diagnosis of disorders in the mother or the fetus. In order to build a comprehensive metabolite database for HAF, hyphenated NMR has been used, for the first time, for systematic HAF profiling. Experiments were carried out using reverse-phase (RP) and ion-exchange liquid chromatography (LC), in order to detect less and more p...
Metabolic characterisation of plasma in juveniles with glycogen storage disease...
Duarte, Iola F.; Goodfellow, Brian J.; Barros, António; Jones, John G.; Barosa, Cristina; Diogo, Luisa; Garcia, Paula; Gil, Ana M.This paper reports the first application of high-resolution 1H NMR spectroscopy to the plasma of five juveniles with glycogen storage disease type 1a (GSD1a), permitting the characterisation of the plasma metabolic profile and the identification of alterations relative to a set of control samples. The relaxation-weighted spectra allowed changes in low molecular weight compounds to be detected more clearly, wher...
In Situ Synthesis of Magnetite Nanoparticles in Carrageenan Gels
Daniel-da-Silva, Ana L.; Trindade, T.; Goodfellow, Brian J.; Costa, Benilde F. O.; Correia, Rui N.; Gil, Ana M.Magnetite nanoparticles have been successfully synthesized in the presence of carrageenan polysaccharides using an in situ coprecipitation method. Iron coordination to the sulfate groups of the polysaccharide was confirmed by FTIR. The polysaccharide type (κ, ι, or λ) and concentration have been varied and their effects on particle morphology and chemical stability of the resultant nanocomposite investigated. T...
In situ synthesis of magnetite nanoparticles in carrageenan gels
Daniel-da-Silva, Ana. L.; Trindade, T.; Goodfellow, Brian J.; Costa, Benilde F. O.; Correia, Rui N.; Gil, Ana M.Magnetite nanoparticles have been successfully synthesized in the presence of carrageenan polysaccharides using an in situ coprecipitation method. Iron coordination to the sulfate groups of the polysaccharide was confirmed by FTIR. The polysaccharide type ( , é, or ì) and concentration have been varied and their effects on particle morphology and chemical stability of the resultant nanocomposite investigated. T...
Morphology and miscibility of chitosan/soy protein blended membranes
Silva, S. S.; Goodfellow, Brian J.; Benesch, Johan; Rocha, J.; Mano, J. F.; Reis, R. L.A physico-chemical characterization of blended membranes composed by chitosan and soy protein has been carried out in order to probe the interactions that allow membranes to be formed from these biopolymer mixtures. These membranes are developed aiming at applications in wound healing and skin tissue engineering scaffolding. The structural features of chitosan/soy blended membranes were investigated by means of...
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