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Eye and Vision 2019年第1期6卷 322-330页

作者： Ke Cao Srujana Sahebjada Andrea j.Richardson paul N.Baird Centre for Eye Research Australia Royal Victorian Eye and Ear HospitalMelbourneAustralia. Department of Surgery OphthalmologyThe University of Melbourne32 Gisborne StreetEast MelbourneVIC 3000Australia

Background:Keratoconus(KC)is a common corneal condition with an unknown gender *** numerous studies have investigated the genetic component of KC,no specific genes have yet been attributed to the *** recently reported posterior segment changes occurring in the eyes of KC ***,it is not clear whether these changes are part of KC pathogenesis or reflect changes in anatomical features of the eye manifested by changes at the *** retinal changes represent the main characteristics observed in agerelated macular degeneration(AMD)and that pleiotropy has been demonstrated between different eye diseases,we wished to assess if known AMD associated genes were also associated with ***:A total of 248 KC subjects and 366 non-KC(control)subjects were recruited from public and private clinics in Melbourne for this *** single nucleotide polymorphisms(SNPs)previously associated with AMD,including rs10490924(ARMS2/HTRA1),rs10737680(CFH),rs13278062(TNFRSF10A),rs1864163(CETP),rs2230199(C3),rs3130783(IER3/DDR1),rs334353(TGFBR1),rs3812111(COL10A1),rs429608(C2/CFB),rs4420638(APOE),rs4698775(CFI),rs5749482(TIMP3),rs6795735(ADAMTS9),rs8017304(RAD51B),rs8135665(SLC16A8),rs920915(LIPC),rs943080(VEGFA),rs9542236(B3GALTL)and rs13081855(COL8A1/FILIP1L),were genotyped in this *** regression was applied to evaluate the association between these SNPs and KC on both genders together,as well as each gender *** regression was also applied to assess the association between SNPs and corneal *** correction was applied to adjust for multiple ***:Genotyping data were available for 18 *** SNP,rs6795735(ADAMTS9)was significantly associated with KC(p=3.5×10−4)when both genders were assessed,whereas rs5749482(TIMP3)was only associated in males(p=7.7×10−4)following Bonferroni multiple ***,when the covariates of age and gender were included,the associations became non-sign

关键词： Keratoconus Gender Genetic Age-related macular degeneration

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Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model

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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

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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

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Hypertriglyceridemia-induced pancreatitis: A case-based review

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World journal of Gastroenterology 2006年第44期12卷 7197-7202页

作者： S Ian Gan Alun L Edwards Christopher j Symonds paul L Beck Division of Gastroenterology and Endocrinology Foothills Hospital University of Calgary Calgary Alberta Canada

Hypertriglyceridemia is an established cause of pancreatitis. In a case-based approach, we present a review of hypertriglyceridemja and how it can cause pancreatitis. We outline how to investigate and manage such patients. A 35 year old man presented to the emergency department with abdominal pain and biochemical evidence of acute pancreatitis. There was no history of alcohol consumption and biliary imaging was normal. The only relevant past medical history was that of mild hyperlipidemia, treated with diet alone. Physical exam revealed epigastric tenderness, right lateral rectus palsy, lipemia retinalis, bitemporal hemianopsia and a delay in the relaxation phase of his ankle reflexes. Subsequent laboratory investigation revealed marked hypertriglyceridemia and panhypopituarism. An enhanced CT scan of the head revealed a large suprasellar mass impinging on the optic chiasm and hypothalamus. The patient was treated supportively; thyroid replacement and lipid lowering agents were started. He underwent a successful resection of a craniopharyngioma. Postoperatively, the patient did well on hormone replacement therapy. He has had no further attacks of pancreatitis. This case highlights many of the factors involved in the regulation of triglyceride metabolism. We review the common causes of hypertriglyceridemia and the proposed mechanisms resulting in pancreatitis. The incidence and management of hypertriglyceridemiainduced pancreatitis are also discussed.

关键词： Hypertriglyceridemia Pancreatitis Hyperlipidemia

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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 jiang 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

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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

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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.

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Shedding Light on Large-Scale Chromatin Reorganization in Arabidopsis thaliana

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Molecular Plant 2012年第3期5卷 583-590页

作者： Martijn van Zanten Federico Tessadori Anton j.M. Peeters paul Fransz Molecular Plant Physiology Institute of Environmental Biology Utrecht University Padualaan 8 3584 CH Utrecht The Netherlands Department of Plant Breeding and Genetics Max Planck Institute for Plant Breeding Research Carl-von-Linne＇-weg 10 50829 Cologne Germany Cardiac Development and Genetics Group Hubrecht Institute for Developmental Biology and Stem Cell Research Uppsalalaan 8 3584 CT Utrecht The Netherlands Plant Ecophysiology Institute of Environmental Biology Utrecht University Padualaan 8 3584 CH Utrecht The Netherlands Nuclear Organization Group Swammerdam Institute for Life Sciences University of Amsterdam Kruislaan 318 1098 SM Amsterdam The Netherlands

Plants need to respond quickly and appropriately to various types of light signals from the environment to optimize growth and development. The immediate response to shading, reduced photon flux （low light）, and changes in spectral quality involves changes in gene regulation. In the case of more persistent shade, the plant shows a dramatic change in the organization of chromatin. Both plant responses are controlled via photoreceptor signaling proteins. Re- cently, several studies have revealed similar features of chromatin reorganization in response to various abiotic and biotic signals, while others have unveiled intricate molecular networks of light signaling towards gene regulation. This opinion paper briefly describes the chromatin （de）compaction response from a light-signaling perspective to provide a link be- tween chromatin and the molecular network of photoreceptors and E3 ubiquitin ligase complexes.

关键词： light signaling chromatin compaction molecular network Arabidopsis

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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

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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

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