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- Lange, Leslie A, et al.
(author)
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Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.
- 2014
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 94:2, s. 233-245
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Journal article (peer-reviewed)abstract
- Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98(th) or <2(nd) percentile). Follow-up analyses included sequencing of 1,302 additional individuals and genotype-based analysis of 52,221 individuals. We observed significant evidence of association between LDL-C and the burden of rare or low-frequency variants in PNPLA5, encoding a phospholipase-domain-containing protein, and both known and previously unidentified variants in PCSK9, LDLR and APOB, three known lipid-related genes. The effect sizes for the burden of rare variants for each associated gene were substantially higher than those observed for individual SNPs identified from GWASs. We replicated the PNPLA5 signal in an independent large-scale sequencing study of 2,084 individuals. In conclusion, this large whole-exome-sequencing study for LDL-C identified a gene not known to be implicated in LDL-C and provides unique insight into the design and analysis of similar experiments.
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| 3. |
- Bartels-Rausch, T., et al.
(author)
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A review of air-ice chemical and physical interactions (AICI): Liquids, quasi-liquids, and solids in snow
- 2014
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In: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 14:3, s. 1587-1633
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Journal article (peer-reviewed)abstract
- Snow in the environment acts as a host to rich chemistry and provides a matrix for physical exchange of contaminants within the ecosystem. The goal of this review is to summarise the current state of knowledge of physical processes and chemical reactivity in surface snow with relevance to polar regions. It focuses on a description of impurities in distinct compartments present in surface snow, such as snow crystals, grain boundaries, crystal surfaces, and liquid parts. It emphasises the microscopic description of the ice surface and its link with the environment. Distinct differences between the disordered air-ice interface, often termed quasi-liquid layer, and a liquid phase are highlighted. The reactivity in these different compartments of surface snow is discussed using many experimental studies, simulations, and selected snow models from the molecular to the macro-scale. Although new experimental techniques have extended our knowledge of the surface properties of ice and their impact on some single reactions and processes, others occurring on, at or within snow grains remain unquantified. The presence of liquid or liquid-like compartments either due to the formation of brine or disorder at surfaces of snow crystals below the freezing point may strongly modify reaction rates. Therefore, future experiments should include a detailed characterisation of the surface properties of the ice matrices. A further point that remains largely unresolved is the distribution of impurities between the different domains of the condensed phase inside the snowpack, i.e. in the bulk solid, in liquid at the surface or trapped in confined pockets within or between grains, or at the surface. While surface-sensitive laboratory techniques may in the future help to resolve this point for equilibrium conditions, additional uncertainty for the environmental snowpack may be caused by the highly dynamic nature of the snowpack due to the fast metamorphism occurring under certain environmental conditions. Due to these gaps in knowledge the first snow chemistry models have attempted to reproduce certain processes like the long-term incorporation of volatile compounds in snow and firn or the release of reactive species from the snowpack. Although so far none of the models offers a coupled approach of physical and chemical processes or a detailed representation of the different compartments, they have successfully been used to reproduce some field experiments. A fully coupled snow chemistry and physics model remains to be developed. © Author(s) 2014.
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| 4. |
- Coles, J. B., et al.
(author)
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Bandwidth-efficient phase modulation techniques for Stimulated Brillouin Scattering suppression in fiber optic parametric amplifiers
- 2010
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In: Optics Express. - 1094-4087 .- 1094-4087. ; 18:17, s. 18138-18150
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Journal article (peer-reviewed)abstract
- Two novel bandwidth efficient pump-dithering Stimulated Brillouin Scattering (SBS) suppression techniques are introduced. The techniques employ a frequency-hopped chirp and an RF noise source to impart phase modulation on the pumps of a two pump Fiber Optical Parametric Amplifier (FOPA). The effectiveness of the introduced techniques is confirmed by measurements of the SBS threshold increase and the associated improvements relative to the current state of the art. Additionally, the effect on the idler signal integrity is presented as measured following amplification from a two pump FOPA employing both techniques. The measured 0.8 dB penalty with pumps dithered by an RF noise source, after accruing 160ps/nm of dispersion with 38 dB conversion gain in a two-pump FOPA is the lowest reported to date.
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| 7. |
- Kuo, W., et al.
(author)
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Developing staining protocols for visualization of tissue-engineering scaffolds using micro computed tomography in native wet state
- 2013
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In: Biomedizinische Technik. - : Walter de Gruyter GmbH. - 0013-5585. ; 58:SUPPL.1
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Journal article (peer-reviewed)abstract
- BNC-alginate and silk fibroin tissue-engineering scaffolds were stained with X-ray contrast agents in order to visualize internal microstructure in the native wet state with microcomputed tomography. A successful protocol employing amphiphilic contrast agents (CAs) dissolved in a water-based staining solution was used. The CAs were then fixed to the scaffold by neutralizing their charged functional groups, increasing their hydrophobicity and retention on the scaffold surface in water. While some unresolved issues concerning homogeneous staining and strength of contrast remain, these first successes constitute an important milestone by identifying good contrast agent candidates and staining protocols for longitudinal monitoring of tissue-engineering studies.
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| 8. |
- Yang, S, et al.
(author)
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Improvement of Crystalline and Photoluminescence of Atomic Layer Deposited m-Plane ZnO Epitaxial Films by Annealing Treatment
- 2012
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In: Crystal Growth & Design. - : American Chemical Society. - 1528-7483 .- 1528-7505. ; 12:10, s. 4745-4751
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Journal article (peer-reviewed)abstract
- Monocrystalline m-plane ZnO epitaxial films with flat surface morphology were grown on m-plane sapphire by using atomic layer deposition. X-ray diffraction and transmission electron microscopy measurements verify not only the in-plane epitaxial relationship of the as-grown films as (10 (1) over bar0)andlt; 0001 andgt;(ZnO)parallel to(10 (1) over bar0)andlt;(1) over bar2 (1) over bar0 andgt; Al2O3 but also the absence of domains with undesirable orientations, which are generally obtained in the m-plane ZnO films grown by other methods. Experimental results indicate that the basal plane stacking fault (BSF) is the dominant structural defects that contribute to the emission at 3.31 eV in m-plane ZnO films. Exactly how thermal annealing affects the structural and optical properties of ZnO epi-films was also investigated. Additionally, based on time-resolved photoluminescence at 5 K, the decay time of BSF related emission and near-band-edge (NBE) emission were determined. Results of this work further demonstrated that the decay time of NBE emission increases with a higher annealing temperature, accompanied by an improvement in crystal structure.
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