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Sökning: WFRF:(POWELL S) > (2010-2014)

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  • Helgadottir, Anna, et al. (författare)
  • Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism
  • 2012
  • Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097 .- 1558-3597. ; 60:8, s. 722-729
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives The purpose of this study is investigate the effects of variants in the apolipoprotein(a) gene (LPA) on vascular diseases with different atherosclerotic and thrombotic components. Background It is unclear whether the LPA variants rs10455872 and rs3798220, which correlate with lipoprotein(a) levels and coronary artery disease (CAD), confer susceptibility predominantly via atherosclerosis or thrombosis. Methods The 2 LPA variants were combined and examined as LPA scores for the association with ischemic stroke (and TOAST [Trial of Org 10172 in Acute Stroke Treatment] subtypes) (effective sample size [n(e)] = 9,396); peripheral arterial disease (n(e) = 5,215); abdominal aortic aneurysm (ne = 4,572); venous thromboembolism (ne = 4,607); intracranial aneurysm (ne = 1,328); CAD (n(e) = 12,716), carotid intima-media thickness (n = 3,714), and angiographic CAD severity (n = 5,588). Results LPA score was associated with ischemic stroke subtype large artery atherosclerosis (odds ratio [OR]: 1.27; p = 6.7 X 10(-4)), peripheral artery disease (OR: 1.47; p = 2.9 x 10(-14)), and abdominal aortic aneurysm (OR: 1.23; p = 6.0 x 10(-5)), but not with the ischemic stroke subtypes cardioembolism (OR: 1.03; p = 0.69) or small vessel disease (OR: 1.06; p = 0.52). Although the LPA variants were not associated with carotid intima-media thickness, they were associated with the number of obstructed coronary vessels (p = 4.8 x 10(-12)). Furthermore, CAD cases carrying LPA risk variants had increased susceptibility to atherosclerotic manifestations outside of the coronary tree (OR: 1.26; p = 0.0010) and had earlier onset of CAD (-1.58 years/allele; p = 8.2 x 10(-8)) than CAD cases not carrying the risk variants. There was no association of LPA score with venous thromboembolism (OR: 0.97; p = 0.63) or intracranial aneurysm (OR: 0.85; p = 0.15). Conclusions LPA sequence variants were associated with atherosclerotic burden, but not with primarily thrombotic phenotypes. (J Am Coll Cardiol 2012; 60: 722-9) (C) 2012 by the American College of Cardiology Foundation
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  • Yang, Jian, et al. (författare)
  • FTO genotype is associated with phenotypic variability of body mass index
  • 2012
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 490:7419, s. 267-272
  • Tidskriftsartikel (refereegranskat)abstract
    • There is evidence across several species for genetic control of phenotypic variation of complex traits(1-4), such that the variance among phenotypes is genotype dependent. Understanding genetic control of variability is important in evolutionary biology, agricultural selection programmes and human medicine, yet for complex traits, no individual genetic variants associated with variance, as opposed to the mean, have been identified. Here we perform a meta-analysis of genome-wide association studies of phenotypic variation using similar to 170,000 samples on height and body mass index (BMI) in human populations. We report evidence that the single nucleotide polymorphism (SNP) rs7202116 at the FTO gene locus, which is known to be associated with obesity (as measured by mean BMI for each rs7202116 genotype)(5-7), is also associated with phenotypic variability. We show that the results are not due to scale effects or other artefacts, and find no other experiment-wise significant evidence for effects on variability, either at loci other than FTO for BMI or at any locus for height. The difference in variance for BMI among individuals with opposite homozygous genotypes at the FTO locus is approximately 7%, corresponding to a difference of similar to 0.5 kilograms in the standard deviation of weight. Our results indicate that genetic variants can be discovered that are associated with variability, and that between-person variability in obesity can partly be explained by the genotype at the FTO locus. The results are consistent with reported FTO by environment interactions for BMI8, possibly mediated by DNA methylation(9,10). Our BMI results for other SNPs and our height results for all SNPs suggest that most genetic variants, including those that influence mean height or mean BMI, are not associated with phenotypic variance, or that their effects on variability are too small to detect even with samples sizes greater than 100,000.
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  • Yi, Chuixiang, et al. (författare)
  • Climate control of terrestrial carbon exchange across biomes and continents
  • 2010
  • Ingår i: Environmental Research Letters. - : IOP Publishing. - 1748-9326. ; 5:3
  • Tidskriftsartikel (refereegranskat)abstract
    • Understanding the relationships between climate and carbon exchange by terrestrial ecosystems is critical to predict future levels of atmospheric carbon dioxide because of the potential accelerating effects of positive climate-carbon cycle feedbacks. However, directly observed relationships between climate and terrestrial CO2 exchange with the atmosphere across biomes and continents are lacking. Here we present data describing the relationships between net ecosystem exchange of carbon (NEE) and climate factors as measured using the eddy covariance method at 125 unique sites in various ecosystems over six continents with a total of 559 site-years. We find that NEE observed at eddy covariance sites is (1) a strong function of mean annual temperature at mid-and high-latitudes, (2) a strong function of dryness at mid-and low-latitudes, and (3) a function of both temperature and dryness around the mid-latitudinal belt (45 degrees N). The sensitivity of NEE to mean annual temperature breaks down at similar to 16 degrees C (a threshold value of mean annual temperature), above which no further increase of CO2 uptake with temperature was observed and dryness influence overrules temperature influence.
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  • Gretarsdottir, Solveig, et al. (författare)
  • Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
  • 2010
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:8, s. 71-692
  • Tidskriftsartikel (refereegranskat)abstract
    • We performed a genome-wide association study on 1,292 individuals with abdominal aortic aneurysms (AAAs) and 30,503 controls from Iceland and The Netherlands, with a follow-up of top markers in up to 3,267 individuals with AAAs and 7,451 controls. The A allele of rs7025486 on 9q33 was found to associate with AAA, with an odds ratio (OR) of 1.21 and P = 4.6 x 10(-10). In tests for association with other vascular diseases, we found that rs7025486[A] is associated with early onset myocardial infarction (OR = 1.18, P = 3.1 x 10(-5)), peripheral arterial disease (OR = 1.14, P = 3.9 x 10(-5)) and pulmonary embolism (OR = 1.20, P = 0.00030), but not with intracranial aneurysm or ischemic stroke. No association was observed between rs7025486[A] and common risk factors for arterial and venous diseases-that is, smoking, lipid levels, obesity, type 2 diabetes and hypertension. Rs7025486 is located within DAB2IP, which encodes an inhibitor of cell growth and survival.
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  • Linderholm, K, et al. (författare)
  • Role of the NMDA-receptor in Prepulse Inhibition in the Rat
  • 2010
  • Ingår i: International journal of tryptophan research : IJTR. - : SAGE Publications. - 1178-6469. ; 3, s. 1-12
  • Tidskriftsartikel (refereegranskat)abstract
    • Kynurenic acid (KYNA) is an endogenous metabolite of tryptophan. Studies have revealed increased brain KYNA levels in patients with schizophrenia. Prepulse inhibition (PPI) is a behavioral model for sensorimotor gating and found to be reduced in schizophrenia. Previous studies have shown that pharmacologically elevated brain KYNA levels disrupt PPI in the rat. The aim of the present study was to investigate the receptor(s) involved in this effect. Rats were treated with different drugs selectively blocking each of the sites that KYNA antagonizes, namely the glutamate recognition site of the N-methyl-D-aspartate receptor (NMDAR), the α7* nicotinic acetylcholine receptor (α7nAChR) and the glycine site of the NMDAR. Kynurenine (200 mg/kg) was given to replicate the effects of increased levels of KYNA on PPI. In order to block the glutamate recognition site of the NMDAR, CGS 19755 (10 mg/kg) or SDZ 220–581 (2.5 mg/kg) were administered and to antagonize the α7nAChR methyllycaconitine (MLA; 6 mg/kg) was given. L-701,324 (1 and 4 mg/kg) or 4-Chloro-kynurenine (4-Cl-KYN; 25, 50 and 100 mg/kg), a drug in situ converted to 7-Chloro-kynurenic acid, were used to block the glycine-site of the NMDAR. Administration of SDZ 220-581 or CGS 19755 was associated with a robust reduction in PPI, whereas L-701,324, 4-Cl-KYN or MLA failed to alter PPI. Kynurenine increased brain KYNA levels 5-fold and tended to decrease PPI. The present study suggests that neither antagonism of the glycine-site of the NMDA receptor nor antagonism of the α7nAChR disrupts PPI, rather with regard to the effects of KYNA, blockade of the glutamate recognition-site is necessary to reduce PPI.
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  • Liu, YW, et al. (författare)
  • APOE ε2 allele is associated with larger regional cortical thicknesses and volumes
  • 2010
  • Ingår i: Dementia and geriatric cognitive disorders. - : S. Karger AG. - 1421-9824 .- 1420-8008. ; 30:3, s. 229-237
  • Tidskriftsartikel (refereegranskat)abstract
    • <i>Background:</i> The protective effect of the apolipoprotein E (APOE) &#917;2 allele against Alzheimer’s disease (AD) is controversial. <i>Objective:</i> Our purpose was to clarify if the &#917;2 allele affects regional cortical thicknesses and volumes. <i>Methods:</i> Regional cortical thicknesses and volumes were measured with an automated pipeline in 109 subjects with mild cognitive impairment, 114 AD patients and 105 age-matched healthy controls. <i>Results:</i> In the mild cognitive impairment group, the &#917;2 carriers had thicker regional cortices at the transverse temporal cortex and parahippocampal gyrus than the subjects with &#917;3/&#917;3, and a larger cerebral gray matter and smaller lateral ventricles than the &#917;3/&#917;3 and &#917;4 carriers. In the AD group, the &#917;2 carriers had significantly thicker entorhinal and transverse temporal cortices, a larger whole cerebral gray matter, and smaller lateral ventricles than the subjects with the &#917;3/&#917;3 genotype, and a significantly thicker entorhinal cortex and larger cerebral gray matter than &#917;4 carriers. No APOE2 effect was found in the control group. <i>Conclusion:</i> The APOE &#917;2 allele is associated with larger regional cortical thicknesses and volumes in mild cognitive impairment and AD.
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  • Lu, Lingyi, et al. (författare)
  • Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG
  • 2012
  • Ingår i: The Prostate. - : Wiley. - 0270-4137 .- 1097-0045. ; 72:4, s. 410-426
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND In spite of intensive efforts, understanding of the genetic aspects of familial prostate cancer (PC) remains largely incomplete. In a previous microsatellite-based linkage scan of 1,233 PC families, we identified suggestive evidence for linkage (i.e., LOD?=?1.86) at 5q12, 15q11, 17q21, 22q12, and two loci on 8p, with additional regions implicated in subsets of families defined by age at diagnosis, disease aggressiveness, or number of affected members. METHODS. In an attempt to replicate these findings and increase linkage resolution, we used the Illumina 6000 SNP linkage panel to perform a genome-wide linkage scan of an independent set of 762 multiplex PC families, collected by 11 International Consortium for Prostate Cancer Genetics (ICPCG) groups. RESULTS. Of the regions identified previously, modest evidence of replication was observed only on the short arm of chromosome 8, where HLOD scores of 1.63 and 3.60 were observed in the complete set of families and families with young average age at diagnosis, respectively. The most significant linkage signals found in the complete set of families were observed across a broad, 37cM interval on 4q13-25, with LOD scores ranging from 2.02 to 2.62, increasing to 4.50 in families with older average age at diagnosis. In families with multiple cases presenting with more aggressive disease, LOD cores over 3.0 were observed at 8q24 in the vicinity of previously identified common PC risk variants, as well as MYC, an important gene in PC biology. CONCLUSIONS. These results will be useful in prioritizing future susceptibility gene discovery efforts in thiscommon cancer. Prostate 72: 410-426, 2012. (C) 2011 Wiley Periodicals, Inc.
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  • Schoch, Conrad L., et al. (författare)
  • Finding needles in haystacks: linking scientific names, reference specimens and molecular data for Fungi
  • 2014
  • Ingår i: Database: The Journal of Biological Databases and Curation. - : Oxford University Press (OUP). - 1758-0463. ; 2014:bau061, s. 1-21
  • Tidskriftsartikel (refereegranskat)abstract
    • DNA phylogenetic comparisons have shown that morphology-based species recognition often underestimates fungal diversity. Therefore, the need for accurate DNA sequence data, tied to both correct taxonomic names and clearly annotated specimen data, has never been greater. Furthermore, the growing number of molecular ecology and microbiome projects using high-throughput sequencing require fast and effective methods for en masse species assignments. In this article, we focus on selecting and re-annotating a set of marker reference sequences that represent each currently accepted order of Fungi. The particular focus is on sequences from the internal transcribed spacer region in the nuclear ribosomal cistron, derived from type specimens and/or ex-type cultures. Re-annotated and verified sequences were deposited in a curated public database at the National Center for Biotechnology Information (NCBI), namely the RefSeq Targeted Loci (RTL) database, and will be visible during routine sequence similarity searches with NR_prefixed accession numbers. A set of standards and protocols is proposed to improve the data quality of new sequences, and we suggest how type and other reference sequences can be used to improve identification of Fungi.
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  • Zamora-Ros, R., et al. (författare)
  • Dietary intakes and food sources of phytoestrogens in the European Prospective Investigation into Cancer and Nutrition (EPIC) 24-hour dietary recall cohort
  • 2012
  • Ingår i: European Journal of Clinical Nutrition. - : Springer Science and Business Media LLC. - 0954-3007 .- 1476-5640. ; 66:8, s. 932-941
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND/OBJECTIVES: Phytoestrogens are estradiol-like natural compounds found in plants that have been associated with protective effects against chronic diseases, including some cancers, cardiovascular diseases and osteoporosis. The purpose of this study was to estimate the dietary intake of phytoestrogens, identify their food sources and their association with lifestyle factors in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. SUBJECTS/METHODS: Single 24-hour dietary recalls were collected from 36 037 individuals from 10 European countries, aged 35-74 years using a standardized computerized interview programe (EPIC-Soft). An ad hoc food composition database on phytoestrogens (isoflavones, lignans, coumestans, enterolignans and equol) was compiled using data from available databases, in order to obtain and describe phytoestrogen intakes and their food sources across 27 redefined EPIC centres. RESULTS: Mean total phytoestrogen intake was the highest in the UK health-conscious group (24.9 mg/day in men and 21.1 mg/day in women) whereas lowest in Greece (1.3 mg/day) in men and Spain-Granada (1.0 mg/day) in women. Northern European countries had higher intakes than southern countries. The main phytoestrogen contributors were isoflavones in both UK centres and lignans in the other EPIC cohorts. Age, body mass index, educational level, smoking status and physical activity were related to increased intakes of lignans, enterolignans and equol, but not to total phytoestrogen, isoflavone or coumestan intakes. In the UK cohorts, the major food sources of phytoestrogens were soy products. In the other EPIC cohorts the dietary sources were more distributed, among fruits, vegetables, soy products, cereal products, non-alcoholic and alcoholic beverages. CONCLUSIONS: There was a high variability in the dietary intake of total and phytoestrogen subclasses and their food sources across European regions.
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  • Al-Mashikhi, S.O, et al. (författare)
  • Heat affected zones and oxidation marks in fiber laser–oxygen cutting of mild steel
  • 2011
  • Ingår i: Journal of laser applications. - : Laser Institute of America. - 1042-346X .- 1938-1387. ; 23:4
  • Tidskriftsartikel (refereegranskat)abstract
    • The effect of cutting speed and sheet thickness on surface oxidation and heat affected zones (HAZs) has been investigated for laser–oxygen cutting of mild steel sheet with a fiber laser. Optical and scanning electron micrographs were used to determine the extent of surface oxidation and HAZ from plan and cross-sectional views, respectively. The HAZ is consistently wider at the bottom of the cut compared to the HAZ at the top of the cut. With increasing speed, the width of the HAZ at the top of the cut decreases whereas the HAZ width at the bottom of the cut generally increases. No simple, direct relationship between HAZ width and surface oxidation was seen. However, it is possible to state that in each case considered here, the HAZ would be completely removed if they are machined back by a depth equal to the extent of the surface oxidation.
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  • Alam, Md. Minhaj, et al. (författare)
  • Surface pore initiated fatigue failure in laser clad components
  • 2013
  • Ingår i: Journal of laser applications. - : Laser Institute of America. - 1042-346X .- 1938-1387. ; 25:3
  • Tidskriftsartikel (refereegranskat)abstract
    • A laser clad and machined cylindrical structural steel rod was fatigue tested under four-point bending load. The resulting fracture could be tracked back to a spherical surface pore in the Co-based coating. Due to an oxide inclusion, the pore was not identified by dye penetrant inspection. Two circular buckling strain patterns that were detected beside the pore at the surfaces after fracture confirm local plastic deformation prior to crack initiation. In order to calculate the stress field around the surface pore, linear elastic finite element analysis was carried out. For four-point bending load, a surface pore generally exceeds the maximum stress of a smooth rod as long as the pore is located within an azimuthal angle of ±55°, which was the case for the presented as well as for another pore initiated sample.
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  • Bailey-Wilson, Joan E, et al. (författare)
  • Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
  • 2012
  • Ingår i: BMC Medical Genetics. - London : BioMed Central. - 1471-2350. ; 13, s. 46-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Genetic variants are likely to contribute to a portion of prostate cancer risk. Full elucidation of the genetic etiology of prostate cancer is difficult because of incomplete penetrance and genetic and phenotypic heterogeneity. Current evidence suggests that genetic linkage to prostate cancer has been found on several chromosomes including the X; however, identification of causative genes has been elusive.Methods: Parametric and non-parametric linkage analyses were performed using 26 microsatellite markers in each of 11 groups of multiple-case prostate cancer families from the International Consortium for Prostate Cancer Genetics (ICPCG). Meta-analyses of the resultant family-specific linkage statistics across the entire 1,323 families and in several predefined subsets were then performed.Results: Meta-analyses of linkage statistics resulted in a maximum parametric heterogeneity lod score (HLOD) of 1.28, and an allele-sharing lod score (LOD) of 2.0 in favor of linkage to Xq27-q28 at 138 cM. In subset analyses, families with average age at onset less than 65 years exhibited a maximum HLOD of 1.8 (at 138 cM) versus a maximum regional HLOD of only 0.32 in families with average age at onset of 65 years or older. Surprisingly, the subset of families with only 2-3 affected men and some evidence of male-to-male transmission of prostate cancer gave the strongest evidence of linkage to the region (HLOD = 3.24, 134 cM). For this subset, the HLOD was slightly increased (HLOD = 3.47 at 134 cM) when families used in the original published report of linkage to Xq27-28 were excluded.Conclusions: Although there was not strong support for linkage to the Xq27-28 region in the complete set of families, the subset of families with earlier age at onset exhibited more evidence of linkage than families with later onset of disease. A subset of families with 2-3 affected individuals and with some evidence of male to male disease transmission showed stronger linkage signals. Our results suggest that the genetic basis for prostate cancer in our families is much more complex than a single susceptibility locus on the X chromosome, and that future explorations of the Xq27-28 region should focus on the subset of families identified here with the strongest evidence of linkage to this region.
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  • Chinga-Carrasco, Gary, et al. (författare)
  • Nanocellulose from wood as a biomaterial for biomedical applications
  • 2014
  • Konferensbidrag (refereegranskat)abstract
    • During the last decades major efforts have been made to produce nanocellulose from wood, where the cellulose fibres are disintegrated into individualized nanofibrils with diameters < 20 nm and lengths in the micrometre scale. Production procedures include various pre-treatments, which yield nanocelluloses with varying chemical and structural properties. One important area of research is nanocellulose as a biomaterial with potential applications within the health sector. As an example, the superior mechanical properties, good moisture retention capability and the ability to form elastic macro-porous structures are advantageous properties for utilizing nanocellulose substrates for wound dressings. However, the utilization of nanocellulose as a substrate for wound dressings requires a thorough assessment of the biocompatibility of the material.  In this respect, it has been demonstrated in-vitro that nanocellulose does not exert acute toxic phenomena on fibroblast cells. However, in addition to in-vitro cytotoxicity testing, in-vivo testing of nanocellulose and the ability of nanocellulose to resist bacterial colonization need a closer attention. This presentation will give an overview of the current research on nanocellulose as a biomaterial for wound dressing applications, considering the morphology of nanocellulose structures, mechanical properties, moisture absorption, cytotoxicity tests and nanocellulose-bacteria interactions.
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  • Chinga-Carrasco, Gary, et al. (författare)
  • Wood nanocellulose : Characterization and potential application as barrier against wound bacteria
  • 2014
  • Konferensbidrag (refereegranskat)abstract
    • Wood nanocellulose is a novel biomaterial for wound dressing applications. Wood nanocellulose was produced from never-dried P. radiata pulp fibres. The applied pre-treatment was 2,2,6,6-tetramethylpiperidinyl-1-oxyl  (TEMPO) mediated oxidation. To characterise bacterial growth, P. aeruginosa PAO1 biofilms were grown in Mueller Hinton broth on air-dried films. Various microscopy techniques, including atomic force microscopy (AFM), confocal laser scanning microscopy (CLSM) and field-emission scanning electron microscopy (FESEM), were applied to characterise the nanocellulose material and the bacterial-nanocellulose interactions.   Multiscale assessments, including FESEM and AFM, revealed the effective fibrillation of the fibre wall structure, yielding nanofibrils with diameters less than 20 nm and lengths in the micrometre-scale. Importantly, we have demonstrated that the growth of PAO1 was inhibited in the presence of the nanocellulose suspensions when compared to the control. Additionally, SEM imaging revealed distinct clusters of PAO1 cells growing on the surfaces of nanocellulose films. This work highlights the potential usefulness of novel nanocellulose materials in wound dressings with optimized characteristics.
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  • Christensen, G Bryce, et al. (författare)
  • Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for prostate cancer Genetics using novel sumLINK and sumLOD analyses.
  • 2010
  • Ingår i: The Prostate. - : Wiley. - 0270-4137 .- 1097-0045. ; 70, s. 735-744
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Prostate cancer (PC) is generally believed to have a strong inherited component, but the search for susceptibility genes has been hindered by the effects of genetic heterogeneity. The recently developed sumLINK and sumLOD statistics are powerful tools for linkage analysis in the presence of heterogeneity. METHODS: We performed a secondary analysis of 1,233 PC pedigrees from the International Consortium for Prostate Cancer Genetics (ICPCG) using two novel statistics, the sumLINK and sumLOD. For both statistics, dominant and recessive genetic models were considered. False discovery rate (FDR) analysis was conducted to assess the effects of multiple testing. RESULTS: Our analysis identified significant linkage evidence at chromosome 22q12, confirming previous findings by the initial conventional analyses of the same ICPCG data. Twelve other regions were identified with genome-wide suggestive evidence for linkage. Seven regions (1q23, 5q11, 5q35, 6p21, 8q12, 11q13, 20p11-q11) are near loci previously identified in the initial ICPCG pooled data analysis or the subset of aggressive PC pedigrees. Three other regions (1p12, 8p23, 19q13) confirm loci reported by others, and two (2p24, 6q27) are novel susceptibility loci. FDR testing indicates that over 70% of these results are likely true positive findings. Statistical recombinant mapping narrowed regions to an average of 9 cM. CONCLUSIONS: Our results represent genomic regions with the greatest consistency of positive linkage evidence across a very large collection of high-risk PC pedigrees using new statistical tests that deal powerfully with heterogeneity. These regions are excellent candidates for further study to identify PC predisposition genes. Prostate (c) 2010 Wiley-Liss, Inc.
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  • Escott-Price, Valentina, et al. (författare)
  • Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
  • 2014
  • Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6, s. e94661-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10(-6)) and 14 (IGHV1-67 p = 7.9x10(-8)) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
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  • Hashemzadeh, M., et al. (författare)
  • The Application of Specific Point Energy Analysis to Laser Cutting with 1 μm Laser Radiation
  • 2014
  • Ingår i: Physics Procedia. - : Elsevier BV. - 1875-3892. ; 56, s. 909-918
  • Tidskriftsartikel (refereegranskat)abstract
    • Specific point energy (SPE) is a concept that has been successfully used in laser welding where SPE and power density determine penetration depth. This type of analysis allows the welding characteristics of different laser systems to be directly compared. This paper investigates if the SPE concept can usefully be applied to laser cutting. In order to provide data for the analysis laser cutting of various thicknesses of mild steel with a 2 kW fibre laser was carried out over a wide range of parameter combinations. It was found that the SPE concept is applicable to laser cutting within the range of parameters investigated here.
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  • McGoldrick, Daryl J., et al. (författare)
  • Assessing inter-laboratory comparability and limits of determination for the analysis of cyclic volatile methyl siloxanes in whole Rainbow Trout (Oncorhynchus mykiss)
  • 2011
  • Ingår i: Chemosphere. - : Elsevier BV. - 0045-6535 .- 1879-1298. ; 85:8, s. 1241-1247
  • Tidskriftsartikel (refereegranskat)abstract
    • Cyclic volatile methyl siloxanes (cVMS) are high volume production chemicals used in a wide range of industrial and consumer products. Three cVMS compounds (D4, D5, and D6) have and are undergoing environmental risk evaluations in several countries and have been proposed for legal regulation in Canada. As interest in monitoring concentrations of these chemicals in the environment increase, there is a need to evaluate the analytical procedures for cVMS in biological matrices in order to assess the quality of data produced. The purpose of this study was to determine laboratory testing performance for measuring residues of D4, D5, and D6 in a standard set of fish homogenate samples and to estimate limits of determination for each substance. The samples sent to each laboratory consisted of homogenized whole body tissues of hatchery raised rainbow trout which were fed food fortified with D4, D5, and D6 (dosed) and trout that were fed standard food rations (control). The participants analyzed each sample using their analytical method of choice using their own standards and procedures for quantification and quality control. With a few exceptions, participating laboratories generated comparable results for D4, D5, and D6 in both the dosed and control samples having z-scores between 2 and -2. Method detection limits for the whole fish matrix were on average 2.4 ng g(-1), ww for D4, 2.3 ng g(-1), ww for D5, and 1.8 ng g(-1), ww for D6.
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  • Powell, John, et al. (författare)
  • Fibre laser cutting of thin section mild steel : An explanation of the ‘striation free’ effect
  • 2011
  • Ingår i: Optics and lasers in engineering. - : Elsevier BV. - 0143-8166 .- 1873-0302. ; 49:8, s. 1069-1075
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper presents the results of an experimental and theoretical investigation into the phenomenon of 'striation free cutting', which is a feature of fibre laser/oxygen cutting of thin section mild steel. The paper concludes that the creation of very low roughness edges is related to an optimisation of the cut front geometry when the cut front is inclined at angles close to the Brewster angle for the lasermaterial combination
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  • Powell, M.S, et al. (författare)
  • Optimisation opportunities for HPGR circuits
  • 2012
  • Ingår i: 11th AusIMM Mill Operators’ Conference.
  • Konferensbidrag (refereegranskat)abstract
    • Based on a thorough review of the Mogalakwena North Concentrator of Anglo Platinum Operations, a wide range of issues were identified that form bottlenecks to the operation. In order to address these, a series of surveys were conducted and the entire dry circuit modelled in detail. From this a full simulation of the plant has been developed, this includes updated models of the HPGR, crusher, bins and screens. These have been implemented in the researchers MDK version of JKSimMet and in a prototype dynamic simulator based on the Matlab Simulink software.The observations, measurements and simulations have provided guidance and quantified the influence of proposed circuit modifications. Based on these a number of upgrades are being planned aimed at ensuring full utilisation of the installed equipment. The circuit demonstrates a potential expansion of over 30% through minor improvements and 70% with the addition of some strategic equipment.
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