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Associations of genome-wide structural variations with phenotypic differences in cross-bred Eurasian pigs 被引量:1
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作者 Wencheng Zong Jinbu Wang +8 位作者 Runze Zhao Naiqi Niu Yanfang Su Ziping Hu Xin Liu Xinhua Hou Ligang Wang Lixian Wang Longchao Zhang 《Journal of Animal Science and Biotechnology》 SCIE CAS CSCD 2024年第1期68-87,共20页
Background During approximately 10,000 years of domestication and selection,a large number of structural variations(SVs)have emerged in the genome of pig breeds,profoundly influencing their phenotypes and the ability ... Background During approximately 10,000 years of domestication and selection,a large number of structural variations(SVs)have emerged in the genome of pig breeds,profoundly influencing their phenotypes and the ability to adapt to the local environment.SVs(≥50 bp)are widely distributed in the genome,mainly in the form of insertion(INS),mobile element insertion(MEI),deletion(DEL),duplication(DUP),inversion(INV),and translocation(TRA).While studies have investigated the SVs in pig genomes,genome-wide association studies(GWAS)-based on SVs have been rarely conducted.Results Here,we obtained a high-quality SV map containing 123,151 SVs from 15 Large White and 15 Min pigs through integrating the power of several SV tools,with 53.95%of the SVs being reported for the first time.These high-quality SVs were used to recover the population genetic structure,confirming the accuracy of genotyping.Potential functional SV loci were then identified based on positional effects and breed stratification.Finally,GWAS were performed for 36 traits by genotyping the screened potential causal loci in the F2 population according to their corresponding genomic positions.We identified a large number of loci involved in 8 carcass traits and 6 skeletal traits on chromosome 7,with FKBP5 containing the most significant SV locus for almost all traits.In addition,we found several significant loci in intramuscular fat,abdominal circumference,heart weight,and liver weight,etc.Conclusions We constructed a high-quality SV map using high-coverage sequencing data and then analyzed them by performing GWAS for 25 carcass traits,7 skeletal traits,and 4 meat quality traits to determine that SVs may affect body size between European and Chinese pig breeds. 展开更多
关键词 Body size GWAS PIG SKELETON Structural variations
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Insights into genetic diversity and phenotypic variations in domestic geese through comprehensive population and pan-genome analysis 被引量:1
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作者 Guangliang Gao Hongmei Zhang +5 位作者 Jiangping Ni Xianzhi Zhao Keshan Zhang Jian Wang Xiangdong Kong Qigui Wang 《Journal of Animal Science and Biotechnology》 SCIE CAS CSCD 2024年第1期88-107,共20页
Background Domestic goose breeds are descended from either the Swan goose(Anser cygnoides)or the Greylag goose(Anser anser),exhibiting variations in body size,reproductive performance,egg production,feather color,and ... Background Domestic goose breeds are descended from either the Swan goose(Anser cygnoides)or the Greylag goose(Anser anser),exhibiting variations in body size,reproductive performance,egg production,feather color,and other phenotypic traits.Constructing a pan-genome facilitates a thorough identification of genetic variations,thereby deepening our comprehension of the molecular mechanisms underlying genetic diversity and phenotypic variability.Results To comprehensively facilitate population genomic and pan-genomic analyses in geese,we embarked on the task of 659 geese whole genome resequencing data and compiling a database of 155 RNA-seq samples.By constructing the pan-genome for geese,we generated non-reference contigs totaling 612 Mb,unveiling a collection of 2,813 novel genes and pinpointing 15,567 core genes,1,324 softcore genes,2,734 shell genes,and 878 cloud genes in goose genomes.Furthermore,we detected an 81.97 Mb genomic region showing signs of genome selection,encompassing the TGFBR2 gene correlated with variations in body weight among geese.Genome-wide association studies utilizing single nucleotide polymorphisms(SNPs)and presence-absence variation revealed significant genomic associations with various goose meat quality,reproductive,and body composition traits.For instance,a gene encoding the SVEP1 protein was linked to carcass oblique length,and a distinct gene-CDS haplotype of the SVEP1 gene exhibited an association with carcass oblique length.Notably,the pan-genome analysis revealed enrichment of variable genes in the“hair follicle maturation”Gene Ontology term,potentially linked to the selection of feather-related traits in geese.A gene presence-absence variation analysis suggested a reduced frequency of genes associated with“regulation of heart contraction”in domesticated geese compared to their wild counterparts.Our study provided novel insights into gene expression features and functions by integrating gene expression patterns across multiple organs and tissues in geese and analyzing population variation.Conclusion This accomplishment originates from the discernment of a multitude of selection signals and candidate genes associated with a wide array of traits,thereby markedly enhancing our understanding of the processes underlying domestication and breeding in geese.Moreover,assembling the pan-genome for geese has yielded a comprehensive apprehension of the goose genome,establishing it as an indispensable asset poised to offer innovative viewpoints and make substantial contributions to future geese breeding initiatives. 展开更多
关键词 Gene-CDS haplotype Goose GWAS PAN-GENOME Presence-absence variation Selection signal
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Variations in evaporation from water surfaces along the margins of the Badain Jaran Desert over nearly 60 years and influencing factors 被引量:1
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作者 Li-juan Wang Zhe Wang +3 位作者 Gao-lei Jiang Zhen-long Nie Jian-mei Shen Sheng-hua Song 《Journal of Groundwater Science and Engineering》 2024年第3期253-263,共11页
Based on meteorological data collected over nearly 60 years(1960-2017)from four national meteorological stations along the margins of the Badain Jaran Desert,this study analyzed the spatiotemporal variations in evapor... Based on meteorological data collected over nearly 60 years(1960-2017)from four national meteorological stations along the margins of the Badain Jaran Desert,this study analyzed the spatiotemporal variations in evaporation from water surfaces and identified the dominant controlling factors.Methods used included linear trend analysis,linear tendency estimation,the departure method,the rank correlation coefficient-based method,and Multiple Linear Regression(MLR).Results indicate notable spatiotemporal differences in evaporation distribution and evolution.Spatially,average annual evaporation exhibited a pronounced altitude effect,decreasing at a rate of about 8.23 mm/m from east to west with increasing altitude.Temporally,annual evaporation showed significant upward trends after 1996 at the northeastern(Guaizi Lake)and western(Dingxin)margins,with rates of 132 mm/10a and 105 mm/10a,respectively.Conversely,along the northwestern(Ejina Banner)and southern(Alxa Right Banner)margins of the desert,an evaporation paradox was observed,with annual evaporation trending downward at rates of 162 mm/10a and 187 mm/10a,respectively,especially after 1987.The dominant factors controlling evaporation varied spatially:Average annual temperature and relative humidity influended the western margin(Dingxin),average annual temperature was the key factor for the northeastern margin(Guaizi Lake),and average wind speed was crucial for the northern(Ejina Banner)and southern(Alxa Right Banner)margins. 展开更多
关键词 Evaporation from water surface Evaporation paradox Dominant controlling factor variation trend
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Structural variations in oil crops:Types,and roles on domestication and breeding
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作者 Xiaobo Cui Miao Yao +4 位作者 Meili Xie Ming Hu Shengyi Liu Lijiang Liu Chaobo Tong 《Oil Crop Science》 CSCD 2024年第4期240-246,共7页
Structural variations(SVs),a newly discovered genetic variation,have gained increasing recognition for their importance,yet much about them remains unknown.With the completion of whole-genome sequencing projects in oi... Structural variations(SVs),a newly discovered genetic variation,have gained increasing recognition for their importance,yet much about them remains unknown.With the completion of whole-genome sequencing projects in oil crops,more SVs have been identified,revealing their types,genomic distribution,and characteristics.These findings have demonstrated the crucial roles of SVs in regulating gene expression,driving trait innovation,facilitating domestication,making this an opportune time for a systematic review.We summarized the progress of SV-related studies in oil crops,focusing on the types of SVs and their mechanisms of occurrence,the strategies and methods for SV detection,and the SVs identified in oil crops such as rapeseed,soybean,peanut,and sesame.The various types of SVs,such as presence-absence variations(PAVs),copy number variations(CNVs),and homeologous exchanges(HEs),have been shown.Along with their genomic characterization,their roles in crop domestication and breeding,and regulatory impact on gene expression and agronomic traits have also been demonstrated.This review will provide an overview of the SV research process in oil crops,enabling researchers to quickly understand key information and apply this knowledge in future studies and crop breeding. 展开更多
关键词 Structural variations Oil crops Copy number variations Presence or absence variations Homologous exchanges
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Radio-Anatomical Variations of Both Origin and Foraminal Entrance of Vertebral Arteries in Black African Human: Experience from Côte d’Ivoire
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作者 Ousmane Toumany Cherif Haidara Thiam Sokhna Astou Gawane +6 位作者 Kemesso Boubacar Sanogo Maïmouna Kanté Abdoulaye Magaye Gaye Ongoïba Nouhoum Zunon-Kipré Yvan Kakou Konan Médard 《Forensic Medicine and Anatomy Research》 2024年第3期27-39,共13页
The vertebral arteries (VAs) are a system of two blood vessels through which blood is transported to the posterior cerebral fossa. VAs may emerge at different sides from the aortic ostium. The aim of our study was to ... The vertebral arteries (VAs) are a system of two blood vessels through which blood is transported to the posterior cerebral fossa. VAs may emerge at different sides from the aortic ostium. The aim of our study was to establish a reference of radio-anatomical variations of the VAs in black African human from Côte d’Ivoire experience. Materials and Methods: Forty patients underwent Computed Angio-Tomography (CAT) of the supra-aortic vessels (SAoVs). Included in our study were patients who underwent CAT of the SAoV from January 2019 to December 2021, those excluded in our study as Caucasians and other leucoderma humans. This exclusion allowed for highlighting only black humans VAs variations. The variations of both origins and foraminal entrance of VA were assessed. We carried out a model of univariate regression for assessing the occurrence of VA variations related to demographic included mainly age, gender and clinical features. Results: The average age was 48 ± 12 years with 0.66 of sex ratio. The most frequent indication for carrying out CAT was brain ischemic stroke assessment (25%). The atypical origin of the VAs out of subclavian arteries (SCA) was 25%. Origin from the aortic arch (AoA) was 17.5%. Six (15%) were unilateral while one (2.5%) was bilateral variation from a common trunk as pattern. Bilateral sixth cervical foramina inlet was 85%. Female sex and ischemic stroke assessment had a statistically significant correlation. Conclusion: VAs variations studies in black African human are lacking in the literature. Our findings depicted a considerable amount of VAs variations opening the field for further observational studies in black African human. 展开更多
关键词 Vertebral Artery variations Morphology VESSELS Supra-Aortic Back African
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Model-based risk assessment on dynamic control of twin-column continuous capture under feedstock variations
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作者 Yu Fan Liang-Zhi Qiao +1 位作者 Shan-Jing Yao Dong-Qiang Lin 《Chinese Journal of Chemical Engineering》 SCIE EI CAS CSCD 2024年第10期22-30,共9页
Dynamic control is essential to guarantee the stable performance of continuous chromatography.AutoMAb dynamic control strategy has been developed to ensure a consistent protein load in twincolumn CaptureSMB continuous... Dynamic control is essential to guarantee the stable performance of continuous chromatography.AutoMAb dynamic control strategy has been developed to ensure a consistent protein load in twincolumn CaptureSMB continuous capture by integrating the UV signal of breakthrough.In this study,the process risk of CaptureSMB continuous capture under AutoMAb control towards the feedstock variations was assessed by a mechanistic model developed by us.The effects of target protein and impurities under the variation range of±10 mAU·min^(-1) on load amount,protein loss,process productivity,and resin capacity utilization were investigated.The results showed that the CaptureSMB process could be successfully controlled by AutoMAb towards increased or slightly decreased concentration of feedstock.However,the load process would be out of control with drastically decreased target protein or impurities,and the decreased impurities would lead to protein loss.It was found that AutoMAb control would cause 44.7%non-operational areas and 18.3%protein loss areas in the variation range of±10 mAU·min^(-1).To improve the stability of the CaptureSMB process,a modified AutoMAb control that would stop the load procedure when the absolute value of the integral area reached the preset value,was proposed to reduce the risk of protein loss and the non-operational area. 展开更多
关键词 Continuous chromatography Process control Feedstock variations Mechanistic modeling PURIFICATION
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Inter-annual variations of dissolved oxygen and hypoxia off the northern Changjiang River(Yangtze River) Estuary in summer from 1997 to 2014
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作者 Anqi Liu Feng Zhou +6 位作者 Xiao Ma Qiang Zhao Guanghong Liao Yuntao Zhou Di Tian Xiaobo Ni Ruibin Ding 《Acta Oceanologica Sinica》 SCIE CAS CSCD 2024年第6期119-130,共12页
Hypoxia off the Changjiang River Estuary has been the subject of much attention,yet systematic observations have been lacking,resulting in a lack of knowledge regarding its long-term change and drivers.By revisiting t... Hypoxia off the Changjiang River Estuary has been the subject of much attention,yet systematic observations have been lacking,resulting in a lack of knowledge regarding its long-term change and drivers.By revisiting the repeated surveys of dissolved oxygen(DO) and other relevant hydrographic parameters along the section from the Changjiang River Estuary to the Jeju-do in the summer from 1997 to 2014,rather different trends were revealed for the dual low-DO cores.The nearshore low-DO core,located close to the river mouth and relatively stable,shows that hypoxia has become more severe with the lowest DO descen ding at a rate of -0.07 mg/(L·a) and the thickness of low-DO zone rising at a rate of 0.43 m/a.The offshore core,centered around 40-m isobath but moving back and forth between 123.5°-125°E,shows large fluctuations in the minimum DO concentration,with the thickness of low-DO zone falling at a rate of -1.55 m/a.The probable factors affecting the minimum DO concentration in the two regions also vary.In the nearshore region,the decreasing minimum DO is driven by the increase in both stratification and primary productivity,with the enhanced extension of the Changjiang River Diluted Water(CDW) strengthening stratification.In the offshore region,the fluctuating trend of the minimum DO concentration indicates that both DO loss and DO supplement are distinct.The DO loss is primarily attributed to bottom apparent oxygen utilization caused by the organic matter decay and is also relevant to the advection of low-DO water from the nearshore region.The DO supplement is primarily due to weakened stratification.Our analysis also shows that the minimum DO concentration in the nearshore region was extremely low in 1998,2003,2007 and 2010,related to El Ni?o signal in these summers. 展开更多
关键词 dissolved oxygen low-DO Changjiang River Estuary interannual variations DUAL-CORE
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Mechanisms for the evolution of cell-to-cell variations and their impacts on fast-charging performance within a lithium-ion battery pack
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作者 Yufang Lu Xiaoru Chen +4 位作者 Xuebing Han Dongxu Guo Yu Wang Xuning Feng Minggao Ouyang 《Journal of Energy Chemistry》 SCIE EI CAS CSCD 2024年第12期11-22,共12页
Cell-to-cell variations(CtCV) compromise the electrochemical performance of battery packs, yet the evolutional mechanism and quantitative impacts of CtCV on the pack's fast-charging performance remain unexplored. ... Cell-to-cell variations(CtCV) compromise the electrochemical performance of battery packs, yet the evolutional mechanism and quantitative impacts of CtCV on the pack's fast-charging performance remain unexplored. This knowledge gap is vital for the proliferation of electric vehicles. This study underlies the relationship between CtCV and charging performance by assessing the pack's charge speed, final electric quantity, and temperature consistency. Cell variations and pack status are depicted using 2D parameter diagrams, and an m PnS configured pack model is built upon a decomposed electrode cell model.Variations in three single electric parameters, i.e., capacity(Q), electric quantity(E), and internal resistance(R), and their dual interactions, i.e., E-Q and R-Q, are analyzed carefully. The results indicate that Q variations predominantly affect the final electric quantity of the pack, while R variations impact the charge speed most. With incremental variances in cell parameters, the pack's fast-charging capability first declines linearly and then deteriorates sharply as variations intensify. This research elucidates the correlations between pack charging capabilities and cell variations, providing essential insights for optimizing cell sorting and assembly, battery management design, and charging protocol development for battery packs. 展开更多
关键词 Lithium-ion battery Battery pack Cell-to-cell variation Fast charging Performance evaluation
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Spatiotemporal variations,influencing factors,and configurational promotion paths of energy efficiency in China’s cities
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作者 Ruyu Xu Keliang Wang +1 位作者 Zhuang Miao Lingxuan Sun 《Chinese Journal of Population,Resources and Environment》 2024年第1期74-86,共13页
The promotion of energy efficiency(EE)helps address energy constraints and promote environmental sustainability.This study comprehensively explores the spatiotemporal variations,influencing factors,and configuration p... The promotion of energy efficiency(EE)helps address energy constraints and promote environmental sustainability.This study comprehensively explores the spatiotemporal variations,influencing factors,and configuration promotion paths of EE in 284 Chinese cities during 2003‒2019 using the global super-efficiency minimum distance to strong efficient frontier(G-S-MinDS),exploratory spatial data analysis(ESDA),multiscale geographically weighted regression(MGWR),and fuzzy set qualitative comparative analysis(fsQCA)methods.The findings are:①China’s cities have an annual average EE of 0.658 with a growth rate of 0.53%,showing considerable promotion potential.②Industrial structure optimization,population agglomeration,economic development,and increased green coverage contribute positively,while government intervention and openness hinder China’s urban EE.③Four configurational promotion paths for enhancing China’s urban EE are identified,where among those paths population density is a core condition,while government intervention is not.This study provides valuable insights into substantially improving urban EE,emphasizing the need for targeted policies to address energy and environmental crises in China. 展开更多
关键词 Energy efficiency Spatiotemporal variations Influencing factors Configurational promotion paths
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High Prevalence of Anatomical Variations and Anomalies of the Coronary Arteries Detected by CT Angiography in Symptomatic Patients
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作者 Ghazi A.Alshumrani 《Congenital Heart Disease》 SCIE 2024年第2期197-206,共10页
Objective:Coronary artery anatomical variations and anomalies are an important topic due to their potential clinical manifestations.This study aims to investigate the prevalence of coronary artery anatomical variation... Objective:Coronary artery anatomical variations and anomalies are an important topic due to their potential clinical manifestations.This study aims to investigate the prevalence of coronary artery anatomical variations and anomalies in symptomatic patients with coronary computed tomography angiography(CCTA).Methods:This is a retrospective study that included all symptomatic patients who had CCTA in a tertiary care hospital in Saudi Arabia during a period of seven years.Results:The total number of included patients was 507(60%males)with a mean age of 57.4 years.Approximately 41%had luminal stenoses,averaging 49.7%.The total num-ber of patients with coronary anatomical variations(CAV)and coronary artery anomalies(CAA)was 217(43%).CAV prevalence was 26%,which included 14%non-right coronary dominance,5%short left main coronary artery(LMCA),and 7%division variations(trifurcation and quadrifurcarion)of the LMCA.The prevalence of CAA was 29%,which included 5%origin anomalies,22%myocardial bridge,and 2%course anomalies.Conclusions:A high prevalence of coronary artery anatomic variations and anomalies in symptomatic patients is reported in this study.Systematic reviews,meta-analyses,reporting guidelines,and unified definitions and classifications of cor-onary variations and anomalies are lacking in the literature,presenting potential opportunities for future research and publications. 展开更多
关键词 Coronary artery anomalies coronary anatomical variation coronary CT angiography
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Dynamic Response Analysis of A Floating Photovoltaic System with Different Mooring Arrangements in An Area with Large Tidal Variations
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作者 XU Wan-hai SUN Yu-meng +3 位作者 HE Zi-qi ZHANG Xin-rui GAO Xi-feng LIU Run 《China Ocean Engineering》 CSCD 2024年第6期1057-1070,共14页
To address the mooring issues of floating photovoltaic systems in areas with large tidal variations,three mooring schemes were designed and compared in this paper:anchor chain,anchor chain with added weights,and ancho... To address the mooring issues of floating photovoltaic systems in areas with large tidal variations,three mooring schemes were designed and compared in this paper:anchor chain,anchor chain with added weights,and anchor chain with Superflex.The model was established via the numerical simulation tool Orcaflex,which considers the combined effects of wind,waves,and currents.A time-domain coupled dynamic analysis was conducted on the performance of the three mooring schemes under various tidal conditions to determine the mooring cable tension and platform motion response.Furthermore,the mooring system with an anchor chain and Superflex was optimized,with a focus on analyzing the effects of the Superflex length,the diameter of the anchor chains,and the mooring radius.The mooring system with the anchor chain and Superflex exhibits more controllable and stable mooring performance in areas with large tidal variations,so that it more effectively maintains the required mooring tension level.These findings not only provide a reference for the feasibility and optimization design of photovoltaic systems in areas with large tidal variations but also offer valuable experience for the sustainable application of clean energy under specific environmental conditions. 展开更多
关键词 floating photovoltaic large tidal variation mooring system dynamic analysis Orcaflex
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Temporal and spatial variations hydrochemical components and driving factors in Baiyangdian Lake in the Northern Plain of China
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作者 Tian-lun Zhai Qian-qian Zhang +1 位作者 Long Wang Hui-wei Wang 《Journal of Groundwater Science and Engineering》 2024年第3期293-308,共16页
Understanding the temporal and spatial variation of hydrochemical components in large freshwater lakes is crucial for effective management and conversation.In this study,we identify the temporalspatial characteristics... Understanding the temporal and spatial variation of hydrochemical components in large freshwater lakes is crucial for effective management and conversation.In this study,we identify the temporalspatial characteristics and driving factors of the hydrochemical components in Baiyangdian Lake using geochemical methods(Gibbs diagram,Piper diagram and End-element diagram of ion ratio)and multivariate statistical techniques(Principal component analysis and Correlation analysis).16 sets of samples were collected from Baiyangdian Lake in May(normal season),July(flood season),and December(dry season)of 2022.Results indicate significant spatial variation in Nat,ci,SO and NO,,suggesting a strong influence of human activities.Cation concentrations exhibit greater seasonal variation in the dry season compared to the flood season,while the concentrations of the four anions show inconsistent seasonal changes due to the combined effects of river water chemical composition and human activities.The hydrochemical type of Baiyangdian Lake is primarily HCO,Cl-Na.Ca,Mg*and HCO,originate mainly from silicate and carbonate rock dissolution,while Kt,Nat and CI originate mainly from sewage and salt dissolution in sediments.SO42 may mainly stem from industrial wastewater,while NO,primarily originates from animal feces and domestic sewage.Through the use of Principal Component Analysis,it is identified that water-rock interaction(silicate and carbonate rocks dissolution,and dissolution of salt in sediments),carbonate sedimentation,sewage,agricultural fertilizer and manure,and nitrification are the main driving factors of the variation of hydrochemical components of Baiyangdian Lake across three hydrological seasons.These findings suggest the need for effective control of substandard domestic sewage discharge,optimization of agricultural fertilization strategies,and proper management of animal manure to comprehensively improve the water environment in Baiyangdian Lake. 展开更多
关键词 Hydrochemical variation SOURCES Human activities Water-rock interaction Multivariate statistical techniques
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Spatiotemporal variations of parameters of internal solitary waves in the northern South China Sea
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作者 Yu’ang LIU Yifei JIANG +3 位作者 Xiaojiang ZHANG Zhiyuan WANG Yu CAO Huizan WANG 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2024年第2期421-438,共18页
The dynamic parameters for internal solitary waves(ISWs)derived from the extended Korteweg-de Vries(eKdV)equation play an important role in the understanding and prediction of ISWs.The spatiotemporal variations of the... The dynamic parameters for internal solitary waves(ISWs)derived from the extended Korteweg-de Vries(eKdV)equation play an important role in the understanding and prediction of ISWs.The spatiotemporal variations of the dynamic parameters of the ISWs in the northern South China Sea(SCS)were studied based on the reanalysis of long-term temperature and salinity datasets.The results for spectrum analysis show that there are definite geographical differences for the periodic variation of the parameters:in shallow water,all parameters vary with a wave period of one year,while in deep water wave components of the parameters at other frequencies exist.Using wavelet analysis,the wavelet power spectral densities in deep water exhibited an inter-annual variation pattern.For example,the wave component of the dispersion coefficient with a wave period of about half a year reached its power peak once every two years.Based on previous work,this inter-annual variation pattern was deduced to be caused by dynamic processes.In further work on the regulatory mechanisms,empirical orthogonal function(EOF)decomposition was performed.It was found that the modes of the dispersion coefficient have different geographical distributions,explaining the reason why the wave components in different frequencies appeared in different locations.The numerical simulation results confirm that the variations in the parameters of the ISWs derived from the eKdV equation could affect the waveforms significantly because of changes in the polarity of the ISWs.Therefore,the periodic variations of the dynamic parameters are related to the geographical location because of dynamic processes operating. 展开更多
关键词 internal solitary waves(ISWs) dynamic parameters eKdV equation spatiotemporal variation polarity empirical orthogonal function(EOF)decomposition
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Relationship Between Gene-Phenotype and Clinical Manifestations of Chromosomal Copy Number Variations Indicated by Non-Invasive Prenatal Testing
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作者 Zixin Pi Xiaoyan Duan +1 位作者 Jing Peng Yanhui Liu 《Journal of Clinical and Nursing Research》 2024年第1期88-95,共8页
Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of... Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs. 展开更多
关键词 Non-invasive prenatal testing Chromosomal copy number variation Chromosomes 1 and 3 Chromosome 4 Chromosome 7 Chromosome 15 Prenatal diagnosis
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Role of variation coefficient of stone density in determining success of shock wave lithotripsy in urinary calculi
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作者 Nadeem Iqbal Aisha Hasan +2 位作者 Sajid Iqbal Sadaf Noureen Saeed Akhter 《World Journal of Nephrology》 2025年第1期110-118,共9页
BACKGROUND Various stone factors can affect the net results of shock wave lithotripsy(SWL).Recently a new factor called variation coefficient of stone density(VCSD)is being considered to have an impact on stone free r... BACKGROUND Various stone factors can affect the net results of shock wave lithotripsy(SWL).Recently a new factor called variation coefficient of stone density(VCSD)is being considered to have an impact on stone free rates.AIM To assess the role of VCSD in determining success of SWL in urinary calculi.METHODS Charts review was utilized for collection of data variables.The patients were subjected to SWL,using an electromagnetic lithotripter.Mean stone density(MSD),stone heterogeneity index(SHI),and VCSD were calculated by generating regions of interest on computed tomography(CT)images.Role of these factors were determined by applying the relevant statistical tests for continuous and categorical variables and a P value of<0.05 was gauged to be statistically significant.RESULTS There were a total of 407 patients included in the analysis.The mean age of the subjects in this study was 38.89±14.61 years.In total,165 out of the 407 patients could not achieve stone free status.The successful group had a significantly lower stone volume as compared to the unsuccessful group(P<0.0001).Skin to stone distance was not dissimilar among the two groups(P=0.47).MSD was significantly lower in the successful group(P<0.0001).SHI and VCSD were both significantly higher in the successful group(P<0.0001).CONCLUSION VCSD,a useful CT based parameter,can be utilized to gauge stone fragility and hence the prediction of SWL outcomes. 展开更多
关键词 Computed tomography Shock wave lithotripsy Stone heterogeneity variation coefficient of stone density Kidney stones
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Genetic variations of wood properties and growth characters of Ko-rean pines from different provenances 被引量:4
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作者 王慧梅 夏德安 +1 位作者 王文杰 杨书文 《Journal of Forestry Research》 SCIE CAS CSCD 2002年第4期277-280,337,共4页
Totally 26 provenance stands of 17-year-old Korean pine were selected for investigating wood properties and growth characters in Mao抏rshan Experimental Forest Farm of Northeast Forestry University in 1999. The anatom... Totally 26 provenance stands of 17-year-old Korean pine were selected for investigating wood properties and growth characters in Mao抏rshan Experimental Forest Farm of Northeast Forestry University in 1999. The anatomical property indexes, including tracheid length, tracheid diameter and wall-indiameter ratio, and the physical property indexes, such as growth ring width, late wood percentage and growth ring density, were measured for wood properties. Growth character indexes, including tree height and diameter at breast height, were also measured. The analytical results showed that there exited obviously dif-ference in wood property indexes between different provenances, which is suggested that wood properties are controlled by their genetic differences. The growth character indexes of Korean pines presented significant difference and they might also be controlled by their genetic differences. Most parameters of wood properties mainly varied in the direction of longitude, but the parameters of growth characters varied in the direction of latitude. 展开更多
关键词 Korean pine Provenance trial Wood properties Geographical variation Genetic variation
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Variations of Melanocortin Receptor 1 (MC1R) Gene in Three Pig Breeds 被引量:8
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作者 顿桂玲 李祥龙 +2 位作者 曹洪战 周荣艳 李兰会 《Journal of Genetics and Genomics》 SCIE CAS CSCD 北大核心 2007年第9期777-782,共6页
Variations of Melanocortin Receptor 1 (MC1R) were investigated using sequencing, PCR-RFLP and PCR-SSCP, in three pig breeds, Landrace, Yorkshire, and Duroc. Five polymorphic sites were found, in which 668G→C occurr... Variations of Melanocortin Receptor 1 (MC1R) were investigated using sequencing, PCR-RFLP and PCR-SSCP, in three pig breeds, Landrace, Yorkshire, and Duroc. Five polymorphic sites were found, in which 668G→C occurred within 5' UTR, nt894insCC in coding region resulting in a premature stop at codon 56, and 1318C→T, 1554G→A, l197G→A in coding region resulting in Ala164Val, Ala243Thr, and Asp124Asn respectively. All individuals in Landrace and Yorkshire present homozygous 668GG, 1197AA, 1318CC, and 1554GG, and have CC insertions at the 894 site, whereas the individuals in Duroc present a contrast homozygous 668CC, 1197GG, 1318TT, and 1554AA, and have no CC insertions at the corresponding site. No heterozygote has been found at these mutation sites. Presumably, 668G→C, 1318C→T, and 1554G→A may be associated with the recessive red color in the Duroc breed, and nt894insCC making 1197G→A nonsense may be associated with the white color in Landrace and Yorkshire breeds. 展开更多
关键词 PIG MC1R gene variatION coat color
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Stochastic Analysis of Interconnect Delay in the Presence of Process Variations 被引量:3
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作者 李鑫 Janet M.Wang +1 位作者 唐卫清 吴慧中 《Journal of Semiconductors》 EI CAS CSCD 北大核心 2008年第2期304-309,共6页
Process variations can reduce the accuracy in estimation of interconnect performance. This work presents a process variation based stochastic model and proposes an effective analytical method to estimate interconnect ... Process variations can reduce the accuracy in estimation of interconnect performance. This work presents a process variation based stochastic model and proposes an effective analytical method to estimate interconnect delay. The technique decouples the stochastic interconnect segments by an improved decoupling method. Combined with a polynomial chaos expression (PCE), this paper applies the stochastic Galerkin method (SGM) to analyze the system response. A finite representation of interconnect delay is then obtained with the complex approximation method and the bisection method. Results from the analysis match well with those from SPICE. Moreover, the method shows good computational efficiency, as the running time is much less than the SPICE simulation's. 展开更多
关键词 coupled interconnects process variations stochastic modeling delay estimation stochastic Galerkin method polynomial chaos expression
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Dissolved Inorganic Arsenic in the Yellow Sea and the East China Sea—Distributions and Seasonal Variations 被引量:2
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作者 任景玲 刘素美 张经 《Marine Science Bulletin》 CAS 2009年第1期24-36,共13页
The distributions and seasonal variations of total dissolved inorganic arsenic (TDIAs, [TDIAs] = [As^5+]+[As^3+]) and arsenite (As3.) in the Yellow Sea and East China Sea are presented hero based on the observa... The distributions and seasonal variations of total dissolved inorganic arsenic (TDIAs, [TDIAs] = [As^5+]+[As^3+]) and arsenite (As3.) in the Yellow Sea and East China Sea are presented hero based on the observations of 9 cruises carried out in 2000 - 2003. The study area covers a broad range of hydrographic and chemical properties. The emphasis is put on a southeast transect from Changjiang Estuary to the Ryukyu Islands (i.e. PN section) in the East China Sea to discuss the impact of terrestdal input on the marginal seas of China. Arsenic species (TDlAs and arsenite) are determined by selective hydride generation - atomic fluorescence spectrometry (HG-AFS). TDIAs concentrations were high in the coastal area of Changjiang Estuary and decreased slightly towards the shelf region. High concentratiOns of TDIAs were also existed in the near bottom layer of shelf edge of the East China Sea which indicated another source of arsenic from the incursion of Kuroshio Waters. The seasonal variations of TDIAs in the study area depend on the hydrographic stages of Changjiang and the incursion intensity of Kuroshio Waters. Arsenite showed opposite distributions with TDIAs, with higher concentrations appeared at the surface layer of shelf region, which was positive correlated with the chlorophyll a. Biological conversion of arsenate into arsenite was hypothesized for the observed distribution pattern and its seasonal variations. The stoichoimetric ratios of As to P were estimated to be about 2×10^3 at PN Section in summer. The concentrations of dissolved arsenic in the Yellow Sea and East China Sea were comparable with other areas in the world. 展开更多
关键词 dissolved arsenic SPECIES Yellow Sea and East China Sea distributions and seasonal variations
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Horizontal Distribution and Annual Variations of Fecal Coliform Bacteria in Luoyuan Bay 被引量:2
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作者 蔡雷鸣 《Marine Science Bulletin》 CAS 2010年第1期48-58,共11页
Fecal Coliform Bacteria (FCB) of marine waters was monitored in Luoyuan Bay from January, 2003 to December, 2005. The results showed that number of FCB in marine water samples ranged from no detection ( 〈2 cfu/100... Fecal Coliform Bacteria (FCB) of marine waters was monitored in Luoyuan Bay from January, 2003 to December, 2005. The results showed that number of FCB in marine water samples ranged from no detection ( 〈2 cfu/100 mL) to 540 cfu/100 mL in Luoyuan Bay. Values of FCB during August to October were significantly higher than those during January to April during three year period. Monthly changes of FCB values at each year period were mainly due to monthly precipitation. In addition, compared with FCB values in difference sample sites, values of FCB in Bay-heed were significantly higher than those in middle of bay and Bay-mouth, Luoyuan Bay. However, values of FCB in Bay-mouth were significantly less than those in middle of bay. The ratios to the par of FCB in 2003, 2004, and 2005 years were 100%, 98.0%, and 97.9%, respectively. Therefore, we considered that the pollution of FCB of surface marine water in Luoyuan Bay was not serious. 展开更多
关键词 Luoyuan Bay fecal coliform bacteria horizontal distribution annual variations
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