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Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

Genes & Diseases 2019年第1期6卷 56-67页

作者： Megan s.Kane Callie J.Diamonstein Natalie Hauser john F.Deeken john E.Niederhuber Thierry Vilboux Inova Translational Medicine Institute Inova Health SystemFairfaxVAUnited States Department of Medicine Virginia Commonwealth UniversityRichmondVAUnited States Department of Public Health sciences University of Virginia School of MedicineCharlottesvilleVAUnited States Department of Oncology and surgery Johns Hopkins University School of MedicineBaltimoreMDUnited States

The uncharacterized gene KIAA1109 has recently been associated with a congenital neurological malformation disorder that variably presents with arthrogryposis,craniofacial and/or cardiac *** have identified two additional patients with compound heterozygous KIAA1109 variants presenting with the same neurological *** mechanism whereby KIAA1109 loss of function causes this spectrum of disorders was the primary focus of our *** hypothesized that KIAA1109 function could be conserved relative to the fly gene tweek and examined endocytosis and endosome recycling in patient ***,we examined the structure of the cytoskeleton and cilia based on functional overlap with endocytosis and several known etiologies for neuronal migration *** primary dermal fibroblasts from one patient and a healthy donor,we performed immunofluorescence and endocytosis assays to examine the endosomal,cytoskeletal,and ciliary cellular *** found notable abnormalities in endosomal trafficking and endosome recycling *** also observed changes in the actin cytoskeleton and cilia structural *** conclude that the function of KIAA1109 in humans may indeed overlap with the function of the Drosophila ortholog,resulting in perturbations to endosomal trafficking and the actin *** alterations have ripple effects,altering many pathways that are critical for proper neuronal migration and embryonic development.

关键词： Cilia Endocytosis KIAA1109 Neurological malformation Vesicular trafficking

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Evaluation of model predictive control(MPC)of solar thermal heating system with thermal energy storage for buildings with highly variable occupancy levels

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Building simulation 2023年第10期16卷 1915-1931页

作者： Zhichen Wei john Calautit Department of Architecture and Built Environment University of NottinghamNottinghamNG72RDUK

The presence or absence of occupants in a building has a direct effect on its energy use,as it influences the operation of various building energy *** with high occupancy variability,such as universities,where fluctuations occur throughout the day and across the year,can pose challenges in developing control strategies that aim to balance comfort and energy *** situation becomes even more complex when such buildings are integrated with renewable energy technologies,due to the inherently intermittent nature of these energy *** promote widespread integration of renewable energy sources in such buildings,the adoption of advanced control strategies such as model predictive control(MPC)is ***,the variable nature of occupancy patterns must be considered in its *** response to this,the present study evaluates a price responsive MPC strategy for a solar thermal heating system integrated with thermal energy storage(TEs)for buildings with high occupancy *** coupled system supplies the building heating through a low temperature underfloor heating system.A case study University building in Nottingham,UK was employed for evaluating the feasibility of the proposed heating system controlled by MPC *** MPC controller aims to optimize the solar heating system’s operation by dynamically adjusting to forecasted weather,occupancy,and solar availability,balancing indoor comfort with energy *** effectively integrating with thermal energy storage,it maximizes solar energy utilization,reducing reliance on non-renewable sources and ultimately lowering energy *** developed model has undergone verification and validation process,utilizing both numerical simulations and experimental *** result shows that the solar hot water system provided 63%heating energy in total for the case study classroom and saved more than half of the electricity cost compared with that of the original building heating system

关键词： building energy storage system model predictive control(MPC) occupant-based demand response solar hot water system thermal energy storage

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The strain seismograms of P- and s-waves of a local event recorded by four-gauge borehole strainmeter

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Earthquake science 2015年第3期28卷 209-214页

作者： Zehua Qiu shunliang Chi Zhenming Wang seth carpenter Lei Tang Yanping Guo Guang Yang Institute of Crustal Dynamics China Earthquake Administration Earthquake Administration of Hebi Kentucky Geological survey University of Kentucky Guza seismic station Earthquake Administration of Sichuan Province

At a sampling rate of 100 samples per second,the YRY-4 four-gauge borehole strainmeters（FGBs） are capable of recording transient strains caused by seismic waves such as P and s waves or strain seismograms. At such a high sampling rate, data from the YRY-4 strainmeters demonstrate fairly satisfactory self-consistency. The strain tensor seismograms demonstrate the senses of motion of P waves, that is, the type of seismic wave travels in the direction of the maximum normal strain change. The observed strain patterns of s waves significantly differ from those of P waves and should contain information about the source mechanism. spectrum analysis shows that the strain seismograms are consistent with conventional broadband seismograms from the same site.

关键词： Four-gauge borehole strainmeter(FGBs) strain seismogram P-wave s-wave self-consistency spectrum analysis

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尼日利亚博尔努盆地沉积地层分布特征

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石油勘探与开发 2015年第5期42卷 615-623页

作者： Olabode solomon O Adekoya john A Ola Peter s Department of Applied Geology The Federal University of Technology Department of Geological sciences Osun State University

利用博尔努盆地内23口探井的钻井、测井资料,借助于Excel、Petrel及surfer等软件,确定了盆地Kerri-Kerri组、Gombe组、Fika组、Gongila组和Bima组及整个沉积地层的空间分布。对整个沉积地层空间分布研究发现,博尔努盆地共有3个主要坳陷(... 详细信息

利用博尔努盆地内23口探井的钻井、测井资料,借助于Excel、Petrel及surfer等软件,确定了盆地Kerri-Kerri组、Gombe组、Fika组、Gongila组和Bima组及整个沉积地层的空间分布。对整个沉积地层空间分布研究发现,博尔努盆地共有3个主要坳陷(A、C、D)和1个构造高点B。坳陷A位于盆地东北部,坳陷C和D分别位于盆地东南部和西南部,构造高点B分隔坳陷A和坳陷C。Kerri-Kerri组、Gombe组、Fika组、Gongila组和Bima组在盆地广泛分布,但地层厚度存在变化;3口深层探井(Kadaru-1井、Herwa-1井及Kinasar-1井)仅钻揭Bima组上部层段(岩性为中—粗粒长石砂岩),对Bima组下部层段尚未钻遇。因此建议针对盆地内部的潜在含油气坳陷区开展深层钻探。

关键词：博尔努盆地尼日利亚地下沉积结构地层分布特征

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Freezing osteoblast cells attached to hydroxyapatite discs and glass coverslips: Mechanisms of damage

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science China(Technological sciences) 2007年第2期50卷 248-256页

作者： McGRATH john Aerospace and Mechanical Engineering Department University of Arizona Tucson AZ 85721 USA

Damage mechanisms for osteoblast cells (OBs) attached to hydroxyapatite (HA) discs and glass coverslips were comprehensively investigated. Cell-cell, cell-matrix interaction altered the cryobiological properties of cells. Attached cells were sub- ject to more severe mechanical damage than isolated cells because attached cells had larger contacting area with ice and the three dimensional movements of iso- lated cells made them more flexible than attached cells that could only deform in one dimension. Results showed that the viability of attached OB cells decreased significantly compared with the viability of isolated OB cells under the same cryo- preservation procedure. Extracellular ice, differential thermal contraction, and mechanical stresses were the major damaging factors for OB cells attached to HA discs and glass coverslips.

关键词： freezing monolayers attachment differential thermal contraction mechanical stress

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Revision of southern Hemisphere taxa referred to Fosterella(Crustacea:Cirripedia),and their extinction in response to Pleistocene cooling

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Integrative Zoology 2015年第6期10卷 555-571页

作者： john BUCKERIDGE Earth&Oceanic systems Group RMIT UniversityMelbourneAustralia

Extensive barnacle coquinas(barnamols)formed around New Zealand’s North and Chatham Islands during the late Pliocene to early *** inner-shelf megabalanine Fosterella is the primary constituent of these lithofacies,which also include epifaunal bivalves,bryozoans and less modified balanids like Notobalanus and *** status of genus Fosterella is reviewed,3 species are retained and a new genus,Porobalanus,is proposed for Fosterella hennigi,a species restricted to the Early Pliocene of Cockburn Island,***,Fosterella did not survive the New Zealand Pleistocene,although Notobalanus and Notomegabalanus,which have fossil records extending back to the Early Miocene,remain important components of present day cool-temperate southern Hemisphere *** of Fosterella,in shelf waters off Argentina,is explained through a combination of changing circulatory and sedimentary regimes,competition for food and space,predation and physiological *** driver of these factors was rapid regional cooling.

关键词： Austromegabalanini nov. Balanomorpha biogeography extinction environmental change Fosterella Porobalanus nov

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BENCHMARKING ON-LINE sERVICEs INDUsTRIEs

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Journal of systems science and systems Engineering 2006年第1期15卷 48-69页

作者： john HAMILTON Director of E-Business James Cook University Cairns 4870 Australia

The Web Quality Analyser (WQA) is a new benchmarking tool for industry. It has been extensively tested across services industries. Forty five critical success features are presented as measures that capture the user’s perception of services industry websites. This tool differs to previous tools, in that it captures the information technology (IT) related driver sectors of website performance, along with the marketing-services related driver sectors. These driver sectors capture relevant structure, function and performance components. An ‘on-off’ switch measurement approach determines each component. Relevant component measures scale into a relative presence of the applicable feature, with a feature block delivering one of the sector drivers. Although it houses both measurable and a few subjective components, the WQA offers a proven and useful means to compare relevant websites. The WQA defines website strengths and weaknesses, thereby allowing for corrections to the website structure of the specific business. WQA benchmarking against services related business competitors delivers a position on the WQA index, facilitates specific website driver rating comparisons, and demonstrates where key competitive advantage may reside. This paper reports on the marketing-services driver sectors of this new benchmarking WQA tool.

关键词： Benchmarking performance website service analysis compare

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Childhood obesity in New Zealand

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World Journal of Pediatrics 2019年第4期15卷 322-331页

作者： Valentina Chiavaroli john D.Gibbins Wayne s.Cutfield JoséG.B.Derraik Neonatal Intensive Care Unit Pescara Public HospitalPescaraItaly Liggins Institute University of AucklandAucklandNew Zealand A Better start-National science Challenge University of AucklandAucklandNew Zealand Endocrinology Department Children's Hospital of Zhejiang University School of MedicineHangzhouChina Department of Women's and Children's Health Uppsala UniversityUppsalaSweden

Background Paediatric obesity has reached epidemic proportions globally,resulting in significant adverse effects on health and *** life events,including those that happen before,during,and after pregnancy can predispose children to later *** purpose of this review is to examine the magnitude of obesity among New Zealand children and adolescents,and to determine their underlying risk factors and associated *** sources PubMed,Web of science,and Google scholar searches were performed using the key terms 'obesity','overweight','children','adolescents',and 'New Zealand'.Results Obesity is a major public health concern in New Zealand,with more than 33% of children and adolescents aged 2-14 years being overweight or *** disproportionately affects Māori (New Zealand's indigenous population) and Pacific children and adolescents,as well as those of lower socioeconomic *** Zealand's obesity epidemic is associated with numerous health issues,including cardiometabolic,gastrointestinal,and psychological problems,which also disproportionately affect Māori and Pacific children and ***,a number of factors may be useful to identify those at increased risk (such as demographic and anthropometric characteristics) and inform possible *** The prevalence of overweight and obese children and adolescents in New Zealand is markedly high,with a greater impact on particular ethnicities and those of lower socioeconomic *** the current burden of pediatric obesity should be a key priority for New Zealand,for the benefit of both current and subsequent *** strategies should focus on obesity prevention,particularly starting at a young age and targeting those at greatest risk.

关键词： Obesity Children Adolescents New Zealand Pacific Islands

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small is beautiful, and dry

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science China(Physics,Mechanics & Astronomy) 2010年第12期53卷 2245-2259页

作者： sHERIDAN john Department of Mechanical and Aerospace Engineering Monash University

Thousands of plant and animal species have been observed to have superhydrophobic surfaces that lead to various novel behaviors. These observations have inspired attempts to create artificial superhydrophobic surfaces, given that such surfaces have multitudinous applications. superhydrophobicity is an enhanced effect of surface roughness and there are known relationships that correlate surface roughness and superhydrophobicity, based on the underlying physics. However, while these examples demonstrate the level of roughness they tell us little about the independence of this effect in terms of its scale. Thus, they are not capable of explaining why such naturally occurring surfaces commonly have micron-submicron sizes. Here we report on the discovery of a new relation, its physical basis and its experimental verification. The results reveal that scaling-down roughness into the micro-submicron range is a unique and elegant strategy to not only achieve superhydrophobicity but also to increase its stability against environmental disturbances. This new relation takes into account the previously overlooked but key fact that the accumulated line energy arising from the numerous solid-water-air intersections that can be distributed over the apparent contact area, when air packets are trapped at small scales on the surface, can dramatically increase as the roughness scale shrinks. This term can in fact become the dominant contributor to the surface energy and so becomes crucial for accomplishing superhydrophobicity. These findings guide fabrication of stable super water-repellant surfaces.

关键词： scale effect line tension wetting contact angle superhydrophobic

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Of trees,geese and cirripedes:Man’s quest for understanding

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Integrative Zoology 2011年第1期6卷 3-12页

作者： john Buckeridge Earth and Oceanic systems Group RMIT UniversityMelbourneVictoriaAustralia

At least zoologists know that barnacles are arthropods rather than ***,this knowledge is surprisingly new,for it was as recent as 1830 before *** Thompson showed,through a careful study of barnacle larvae,that they were *** the 1850s,Charles Darwin unraveled much of the taxonomy of barnacles,and,significantly,his observations and classification of them follow the structure that was to be published later as his evolutionary *** of these works,knowledge of the systematic placement of barnacles remains surprisingly poor in the wider population today,with most non-biologists viewing barnacles as shallow-water fouling organisms related to oysters and *** present paper reviews the way humans have perceived barnacles for at least a millennium;it evaluates why they were thought to have grown from trees and to have been part of the life cycle of birds;it concludes by contemplating the manner in which we perceive our environment and by doing so try to make sense of our world.

关键词： barnacles barnacle tree changing world views Darwin john Gerarde.

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