22 research outputs found

    Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

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    Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-ethnic meta-analysis of genome-wide association studies (discovery cohort N = 14,151 and replication N = 5299) of the International Cataract Genetics Consortium. We confirmed the known genetic association of CRYAA (rs7278468, P = 2.8 × 10−16) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P = 1.7 × 1

    Deformation-induced contaminants and thermal stability variations in copper processed by high pressure surface rolling

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    The microstructure and the spatial distribution of deformation-induced contaminants have been investigated in copper processed by high pressure surface rolling. It is found that the topmost layer and some regions below this layer are contaminated as a result of surface oxidation and interaction with the steel rolls. The contamination is seen in the form of films with increased oxygen and iron content. In addition, steel fragments in the range 0.4 – 3 µm are revealed in the material. Although contaminated regions are characterized by small subgrain sizes and a high stored energy, these regions are found to be more resistant to recrystallization than adjacent non-contaminated regions with coarser subgrains

    Gradient microstructure, recrystallization and mechanical properties of copper processed by high pressure surface rolling

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    The microstructure, hardness and tensile properties have been studied in copper processed by high pressure surface rolling (HPSR) both in the as-deformed condition and after subsequent annealing at 150°C. It is found that a gradient structure with significant differences in the scale of microstructural features is formed by HPSR. The deformed microstructure varies from nano- and ultrafine-scale structures with a large fraction of high angle boundaries near the surface to lightly deformed grains at depths of 1–3 mm below the surface. Tensile tests of 1-mm-thick specimens demonstrate that the as-deformed material has a high strength and a low uniform elongation. Annealing at 150°C results in partial recrystallization, which creates new through-thickness gradients. Except for the topmost layer and several bands in the adjacent layer, recrystallization is more pronounced close to the surface. The fraction recrystallized is at least 80% at depths of 60–300 µm after annealing for 960 min. The fraction recrystallized in the subsurface decreases with increasing depth, and the deformed layer at depths greater than 500 µm remains largely non-recrystallized. This partially recrystallized condition demonstrates an improved combination of strength and ductility

    Optimization of fermentation conditions for P450 BM-3 monooxygenase production by hybrid design methodology

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    Factorial design and response surface techniques were used to design and optimize increasing P450 BM-3 expression in E. coli. Operational conditions for maximum production were determined with twelve parameters under consideration: the concentration of FeCl(3), induction at OD(578) (optical density measured at 578 nm), induction time and inoculum concentration. Initially, Plackett-Burman (PB) design was used to evaluate the process variables relevant in relation to P450 BM-3 production. Four statistically significant parameters for response were selected and utilized in order to optimize the process. With the 416C model of hybrid design, response surfaces were generated, and P450 BM-3 production was improved to 57.90×10(−3) U/ml by the best combinations of the physicochemical parameters at optimum levels of 0.12 mg/L FeCl(3), inoculum concentration of 2.10%, induction at OD(578) equal to 1.07, and with 6.05 h of induction
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