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journal of Genetics and Genomics 2021年第4期48卷 289-299页

作者： Wouter Steyaert Shana Verschuere paul j.Coucke Olivier M.Vanakker Center for Medical Genetics Ghent University HospitalGhentBelgium bDepartment of Biomolecular Medicine Ghent UniversityGhentBelgium Department of Human Genetics Radboud Institute for Molecular Life SciencesRadboud University Medical CenterNijmegenthe Netherlands

Pseudogenes are frequently encountered noncoding sequences with a high sequence similarity to their protein-coding *** this reason,their presence is often considered troublesome in molecular *** pseudoxanthoma elasticum(PXE),a disease predominantly caused by mutations in ATPbinding cassette family C member 6(ABCC6),the presence of two pseudogenes complicates the analysis of sequence *** whole-exome sequencing(WES)becoming the standard of care in molecular diagnostics,we wanted to evaluate whether this technique is as reliable as gene-specific targeted enrichment analysis for the analysis of *** established a PCR-based targeted enrichment and next-generation sequencing testing approach and demonstrated that the ABCC6-specific enrichment combined with the applied mapping algorithm overcomes the complication of ABCC6 pseudogene aspecificities,contrary to *** propose a time-and cost-efficient diagnostic strategy for comprehensive and accurate molecular genetic testing of PXE,which is highly automatable.

关键词： Pseudoxanthoma elasticum ABCC6 Pseudogenes Next-generation sequencing Whole-exome sequencing Targeted enrichment

Strategic comparison of membrane-assisted and membrane-less water electrolyzers and their potential application in direct seawater splitting(DSS)

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Green Energy & Environment 2023年第4期8卷 989-1005页

作者： Abdul Malek Xu Lu paul R.Shearing Dan j.L.Brett Guanjie He Clean Combustion Research Center(CCRC) Physical Science and Engineering Division(PSE)King Abdullah University of Science and Technology(KAUST)Thuwal 23955-6900Kingdom of Saudi Arabia KAUST Solar Center(KSC) Physical Science and Engineering Division(PSE)King Abdullah University of Science and Technology(KAUST)Thuwal 23955-6900Kingdom of Saudi Arabia School of Engineering and Materials Science Queen Mary University of LondonMile End RoadLondon E14NSUK Department of Chemical Engineering University College London(UCL)Gower StLondon WC1E 6BTUnited Kingdom

Electrocatalytic splitting of water by means of renewable energy as the electricity supply is one of the most promising methods for storing green renewable energy as hydrogen. Although two-thirds of the earth’s surface is covered with water, there is inadequacy of freshwater in most parts of the world. Hence, splitting seawater instead of freshwater could be a truly sustainable alternative. However, direct seawater splitting faces challenges because of the complex composition of seawater. The composition, and hence, the local chemistry of seawater may vary depending on its origin, and in most cases, tracking of the side reactions and standardizing and customizing the catalytic process will be an extra challenge. The corrosion of catalysts and competitive side reactions due to the presence of various inorganic and organic pollutants create challenges for developing stable electro-catalysts. Hence, seawater splitting generally involves a two-step process, i.e., purification of seawater using reverse osmosis and then subsequent fresh water splitting. However, this demands two separate chambers and larger space, and increases complexity of the reactor design. Recently, there have been efforts to directly split seawater without the reverse osmosis step. Herein, we represent the most recent innovative approaches to avoid the two-step process, and compare the potential application of membrane-assisted and membrane-less electrolyzers in direct seawater splitting(DSS). We particularly discuss the device engineering, and propose a novel electrolyzer design strategies for concentration gradient based membrane-less microfluidic electrolyzer.

关键词： Electrocatalytic seawater splitting Direct seawater splitting Osmosis Concentration cells Membrane-less electrolyzer Microfluidic electrolyzer

Gas Quenching Small Components

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材料热处理学报 2004年第5期25卷 494-497页

作者： paul Stratton BOC Sheffield UK

Gas quenching is an environmentally friendly and effective way of quenching components. However it has not been possible to apply it to small components because of the difficulties of jigging. A method of gas quenching such small components is described in which they are levitated in a confined gas stream. The method is suitable for quenching low alloy steel components that weigh between 1 and lOg.

关键词：气体流淬火悬浮低合金钢热处理

Ferritin acts as a target site for the snowdrop lectin （GNA） in the midgut of the cotton leafworm Spodoptera littoralis

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Insect Science 2008年第6期15卷 513-519页

作者： Amin Sadeghi Guy Smagghe paul Proost Els j.M. Van Damme Laboratory of Agrozoology Department of Crop Protection Laboratory of Biochemistry and Glycobiology Department of Molecular Biotechnology Faculty of Bioscience Engineering Ghent University Ghent Rega Institute Laboratory of Molecular Immunology Kathofieke Universiteit Leuven Minderbroedersstraat 10 B-3000 Leuven Belgium

The snowdrop lectin GNA （Galanthus nivalis agglutinin） has been shown to possess insecticidal activity to a range of economically important insect pests. However, the precise mechanism of insecticidal action of GNA against insects remains unknown. In this investigation, we attempted to purify and identify receptor（s） responsible for binding of GNA in the larval midgut of a major lepidopteran pest （the cotton leafworm, Spodoptera littoralis） to better understand its mode of action. Therefore, cytoplasmic as well as membrane proteins from 800 larval midguts were chromatographed on a column with immobilized GNA. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis analysis of the proteins eluted from the GNA column followed by sequencing of the GNA-binding proteins and BLAST analyses revealed that the N-terminal sequences of a 24 kDa polypeptide purified from the cytoplasmic and membrane protein fraction revealed sequence similarity to sequences encoding heavy chain homologs of ferritin from Manduca sexta （76% sequence identity）, Calpodes ethlius （80% sequence identity） and Bombyx mori （61% sequence identity）. Furthermore, the N-terminal sequence of a 31 kDa polypeptide from the membrane protein fraction showed sequence similarity to a light chain homolog of ferritin from Manduca sexta （88% sequence identity）.

关键词： ferritin Galanthus nivalis agglutinin GNA Lepidoptera midgut receptors Spodoptera littoralis

Myosin binding protein C:Structural abnormalities in familial hypertrophic cardiomyopathy

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Cell Research 2004年第2期14卷 95-110页

作者： Cecily E OAKLEY,Brett D HAMBLY,paul MG CURMI,Louise j BROWN Department of Pathology University of Sydney NSW 2006 Australia Department of Pathology University of Sydney NSW 2006 Australia Initiative for Biomolecular Structure School of Physics University of New South Wales NSW 2052 and Centre for Immunology St Vincent's Hospital and University of New South Wales Sydney NSW 2010 Australia. Initiative for Biomolecular Structure School of Physics University of New South Wales NSW 2052 and Centre for Immunology St Vincent's Hospital and University of New South Wales Sydney NSW 2010 Australia.

The muscle protein myosin binding protein C (MyBPC) is a large multi-domain protein whose role in the sarcomere is complex and not yet fully understood. Mutations in MyBPC are strongly associated with the heart disease familial hypertrophic cardiomyopathy (FHC) and these experiments of nature have provided some insight into the intricate workings of this protein in the heart. While some regions of the MyBPC molecule have been assigned a function in the regulation of muscle contraction, the interaction of other regions with various parts of the myosin molecule and the sarcomeric proteins, actin and titin, remain obscure. In addition, several intra-domain interactions between adjacent MyBPC molecules have been identified. Although the basic structure of the molecule (a series of immunoglobulin and fibronectin domains) has been elucidated, the assembly of MyBPC in the sarcomere is a topic for debate. By analysing the MyBPC sequence with respect to FHC-causing mutations it is possible to identify individual

关键词： myosin binding protein C hypertrophic cardiomyopathy sarcomeric proteins immunoglobulin superfamily mutations.

Robust Filtration Techniques in Geometrical Metrology and Their Comparison

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International journal of Automation and computing 2013年第1期10卷 1-8页

作者： Shan Lou Wen-Han Zeng Xiang-Qian j.ang paul j. Scott EPSRC Centre for Innovative Manufacturing in Advanced Metrology University of Huddersfield

Filtration is one of the core elements of analysis tools in geometrical metrology. Filtration techniques are progressing along with the advancement of manufacturing technology. Modern filtration techniques are required to be robust against outliers, applicable to surfaces with complex geometry and reliable in whole range of measurement data. A comparison study is conducted to evaluate commonly used robust filtration techniques in the field of geometrical metrology, including the two-stage Gaussian filter, the robust Gaussian regression filter, the robust spline filter and morphological filters. They are compared in terms of four aspects： functionality, mathematical computation, capability and characterization parameters. As a result, this study offers metrologists a guideline to choose the appropriate filter for various applications.

关键词： Geometrical metrology robust Gaussian regression filter robust spline filter morphological filters surface roughness

Scales of snow depth variability in high elevation rangeland sagebrush

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Frontiers of Earth Science 2017年第3期11卷 469-481页

作者： Molly E. TEDESCHE Steven R. FASSNACHT paul j. MEIMAN Watershed Science Department of Ecosystem Science and Sustainability Colorado State University Fort Collins CO 80523-1476 USA Intemational Arctic Research Center Water & Environmental Research Center Institute of Northern Engineering University of Alaska Fairbanks Fairbanks AK 99775 USA Cooperative Institute for Research in the Atmosphere Fort Collins CO 80523-1375 USA Natural Resources Ecology Laboratory Fort Collins CO 80523-1499 USA Abt. Kartographie GIS & Femerkundung Geographisches Institut Georg-August-Universitat Gottingen 37077 Gottingen Germany Rangeland Ecosystem Science Department of Forest and Rangeland Stewardship Colorado State University Fort Collins CO 80523 USA

In high elevation semi-arid rangelands, sage- brush and other shrubs can affect transport and deposition of wind-blown snow, enabling the formation of snowdrifts. Datasets from three field experiments were used to investigate the scales of spatial variability of snow depth around big mountain sagebrush （Artemisia tridentata Nutt.） at a high elevation plateau rangeland in North Park, Colorado, during the winters of 2002, 2003, and 2008. Data were collected at multiple resolutions （0.05 to 25 m） and extents （2 to 1000 m）. Finer scale data were collected specifically for this study to examine the correlation between snow depth; sagebrush microtopogra- phy, the ground surface, and the snow surface, as well as the temporal consistency of snow depth patterns. Vario- grams were used to identify the spatial structure and the Moran＇s I statistic was used to determine the spatial correlation. Results show some temporal consistency in snow depth at several scales. Plot scale snow depth variability is partly a function of the nature of individual shrubs, as there is some correlation between the spatial structure of snow depth and sagebrush, as well as between the ground and snow depth. The optimal sampling resolution appears to be 25-cm, but over a large area, this would require a multitude of samples, and thus a random stratified approach is recommended with a fine measurement resolution of 5-cm.

关键词： snow hydrology high elevation rangelands,spatial statistics variograms snow pack spatial variability,snow drifts

The use of electro-deoxidation in molten salts to reduce the energy consumption of solar grade silicon and increase the output of PV solar cells

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Progress in Natural Science:Materials International 2015年第6期25卷 583-590页

作者： paul R.Coxon Michael Coto Eimutis juzeliunas Derek j.Fray Department of Materials Science & Metallurgy University of Cambridge Institute of Chemistry Centre for Physical Sciences & Technology 3. Klaip?da University

Solar photovoltaics,based upon silicon,are the most popular form of solar cell with efficiencies around 20%.These efficiencies can be further increased by employing light trapping schemes to minimise optical losses through scattering and reflection which enhances the amount of light absorbed and number of photo-carriers *** approaches employ antireflection coatings（ARCs） or texturise the surface of the silicon disks,so that the structure consists of an array of needles which can absorb most of the ***,these structures are created by leaching the silicon with hydrofluoric-based acids or by reactive ion etching（RIE） *** paper reviews some of the methods for improving the energy efficiency of silicon production,and describes the use of electro-deoxidation of SiO;layers,on silicon,in molten calcium chloride to form nanoporous black silicon（b-Si） *** coating b-Si surface with TiO;,a common ARC,extremely black surfaces with negligible reflectance of about 0.1%,are produced,which can have applications for low-cost high efficiency solar cells.

关键词： Black silicon Solar cell photovoltaics Silicon molten salt Electrochemistry

Application of None Cement Aluminamagnesia Gunning Mix with Special High Reactive Alumina in Steel Ladles

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China's Refractories 2020年第1期29卷 20-26页

作者： jérome KIENNEMANN paul SOLER johnson LEE Alteo Gardanne 20062France

During calcining the aluminum hydroxide according to the Bayer process in a rotary kiln,the process of incomplete conversion to alpha alumina by soft calcination leads to a special intermediate alumina product containing microcrystalline of primary crystal alpha alumina particles less than 0.4μm,and other alumina phases with finer microcrystalline of less than 0.2μm *** special alumina powder has similar properties to silica fume or clay,such as high surface area and reactivity,fast wetting,low water demand and high *** can partially or completely replace silica fume and clay in dry gunning *** works towards improving the high temperature resistance of the gunning material matrix as well as the corrosion resistance and service life of the gunning *** application results show that:the ladle cementfree alumina-magnesia dry gunning mix with this special alumina sub-micro powder,compared with traditional dry gunning materials,has lower rebound loss(<10%),better adhesion rate,higher corrosion resistance and peeling resistance;and it can replace the veneering casting repair to achieve the similar performance.A further improvement goal is to replace the initial casting linings,thus this concept will give a new revolution to the monolithic steel ladles.

关键词： none cement gunning mix special reactive alumina monolithic steel ladles

Improving rice photosynthesis and yield through trehalose 6-phosphate signaling

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Molecular Plant 2022年第4期15卷 586-588页

作者： Matthew j.paul javier A.Miret Cara A.Griffiths Plant Science Rothamsted ResearchAL52JQ HarpendenHertfordshireUK

THE T6P-SnRK1 SIGNALING PATHWAY IN PLANTS,The biosynthetic route for the synthesis of trehalose in plants is through a low-flux pathway that leads to the accumulation of micromolar amounts of trehalose 6-phosphate(T6P)and trehalose when sucrose is available.T6P accumulates in proportion to sucrose(Lunn et al.,2006)as an indispensable regulator of carbohydrate utilization(Schluepmann et al.,2003).At least some of the indispensability of T6P and its profound and widespread effects on plant growth and development can be explained through T6P inhibition of the SNF1-related protein kinase SnRK1(Zhang et al.,2009),a central regulator of plant responses to carbon and energy status.

关键词： molar synthesis explained