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Whole-genome sequencing identifies novel genes for autism in Chinese trios

Science China Life Sciences 2024年

作者： Suhua Chang Jia Jia Liu yilu zhao Tao Pang Xiangyu Zheng Zhirui Song Anyi Zhang Xuping Gao Lingxue Luo Yanqing Guo Jing Liu Li Yang Lin Lu Peking University Sixth Hospital Peking University Institute of Mental HealthNHC Key Laboratory of Mental Health (Peking University)National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital) Chinese Academy of Medical Sciences Research Unit (No.2018RU006) Peking University School of Nursing Peking University Wuhan Biobank National Institute on Drug Dependence Peking University

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with high genetic heritability but *** understanding its genetics requires whole-genome sequencing (WGS),but the ASD studies utilizing WGS data in Chinese population are *** this study,we present a WGS study for 334 individuals,including 112 ASD patients and their non-ASD *** identified 146 de novo variants in coding regions in 85 cases and 60 inherited variants in coding *** integrating these variants with an association model,we identified 33 potential risk genes (P<0.001) enriched in neuron and regulation related biological *** the well-known ASD genes (SCN2A,NF1,SHANK3,CHD8 etc.),several high confidence genes were highlighted by a series of functional analyses,including CTNND1,DGKZ,LRP1,DDN,ZNF483,NR4A2,SMAD6,INTS1,and MRPL12,with more supported evidence from GO enrichment,expression and network *** also integrated RNA-seq data to analyze the effect of the variants on the gene expression and found 12 genes in the individuals with the related variants had relatively biased *** further presented the clinical phenotypes of the proband carrying the risk genes in both our samples and Caucasian samples to show the effect of the risk genes on *** variants in noncoding regions,a total of 74 de novo variants and 30 inherited variants were predicted as pathogenic with high confidence,which were mapped to specific genes or regulatory *** number of de novo variants found in patient was significantly associated with the parents’ages at the birth of the child,and gender with *** also identified small de novo structural variants in ASD *** results in this study provided important evidence for understanding the genetic mechanism of ASD.

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云南省净初级生产力时空变化及其影响因素分析

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遥感信息 2024年第1期39卷 93-103页

作者：郑洁茹温兴平王俊霖赵一璐曹毅昆明理工大学国土资源工程学院昆明650093 云南省矿产资源预测评价工程实验室昆明650093

净初级生产力(net primary production,NPP)是衡量生态系统碳循环的重要指标。文章基于MOD17A3HGF数据和气象数据,利用Theil-Sen Median趋势分析、重心模型和相关性分析等方法对云南省2011—2020年NPP时空变化特征和影响因素进行研究,... 详细信息

净初级生产力(net primary production,NPP)是衡量生态系统碳循环的重要指标。文章基于MOD17A3HGF数据和气象数据,利用Theil-Sen Median趋势分析、重心模型和相关性分析等方法对云南省2011—2020年NPP时空变化特征和影响因素进行研究,并定量区分人类活动和气候变化对植被的影响。结果表明:2011—2020年云南省NPP在空间上呈自西向东、自南向北逐渐下降的分布特征,平均值为1025.22 gC·m^(-2)·a^(-1);高波动区主要分布在迪庆藏族自治州和怒江傈僳族自治州;NPP与气温显著相关区域主要分布在滇东地区,与降水显著相关区域主要分布在滇中和滇东北地区;影响研究区植被恢复的因子顺序为:气候变化>气候变化与人类活动共同作用>人类活动;影响研究区植被退化的因子顺序为:人类活动>气候变化与人类活动共同作用>气候变化。

关键词： NPP 重心模型时空变化影响因素人类活动云南省

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Off-stoichiometry-guided design of high-strength chemically complex intermetallic-based alloys with outstanding ductility

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Journal of Materials Science & Technology 2023年第29期160卷 28-33页

作者： Bo Xiao Jixun Zhang Shaofei Liu yilu zhao Lianyong Xu C.T.Liu Tao Yang Department of Materials Science and Engineering Mechanical Behavior Division of Shenyang National Laboratory for Materials ScienceCity University of Hong KongHong KongChina Center for Advanced Nuclear Safety and Sustainable Development City University of Hong KongHong KongChina Hong Kong Institute for Advanced Study City University of Hong KongHong KongChina School of Materials Science and Engineering Harbin Institute of Technology(Shenzhen)Shenzhen 518055China School of Materials Science and Engineering Tianjin UniversityTianjin 300350China

*** The lasting drive for improved energy efficiency in power gen-eration encourages the innovative design of advanced structural materials with superb mechanical properties[1-6].Among these materials,ordered intermetallic alloys[7-9],as a unique class of metallic materials,have drawn increasing concern from both the scientific and industrial communities due to their intriguing high-temperature properties,strong chemical binding,and low atomic mobility[10,11].However,in light of the insufficient number of slip systems and/or intrinsically weak grain boundary(GB),they are usually brittle at ambient temperature,severely hindering their practical use in engineering systems[12].Previous studies reported that the change in alloy stoichiometry has a significant beneficial effect on the ductility of intermetallic *** instance,Liu et al.

关键词： intermetallic ductility alloys

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用于稠油热采井的耐温凝胶堵剂研制与评价——以春光油田为例

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石油地质与工程 2024年第1期38卷 113-116页

作者：赵长喜程红晓耿超徐丽娜王晓东赵一潞中国石化河南油田分公司石油工程技术研究院河南南阳473132

针对河南春光油田稠油热采水平井水窜严重的问题,通过耐高温凝胶堵剂配方研究及性能评价,配套双封定位封堵工艺,实现了水平井不同水窜位置的有效封堵。所研制的耐高温凝胶堵剂,具有耐温耐盐性能好和封堵强度高的特点,耐盐1.00×10^(5)mg... 详细信息

针对河南春光油田稠油热采水平井水窜严重的问题,通过耐高温凝胶堵剂配方研究及性能评价,配套双封定位封堵工艺,实现了水平井不同水窜位置的有效封堵。所研制的耐高温凝胶堵剂,具有耐温耐盐性能好和封堵强度高的特点,耐盐1.00×10^(5)mg/L,耐温达到350℃,高温60 h后突破真空度仍保持在0.065 MPa以上,现场实施后有效延缓了稠油水平井水窜速度,改善了稠油热采水平井开发效果。

关键词：稠油热采水平井水窜凝胶堵剂

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Simultaneously improving mechanical properties and oxidation resistance of Ti-bearing high-entropy superalloys at intermediate temperature via silicon addition

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Journal of Materials Science & Technology 2023年第26期157卷 30-41页

作者： Shaofei Liu Weicheng Xiao Bo Xiao Jiang Ju Yinghao Zhou yilu zhao Zengbao Jiao Junhua Luan Qian Li Jinxiong Hou Ji-jung Kai Tao Yang Department of Mechanical Engineering City University of Hong KongHong Kong 999077China Center for Advanced Nuclear Safety and Sustainable Development City University of Hong KongHong Kong 999077China Department of Materials Science and Engineering City University of Hong KongHong Kong 999077China School of Materials Science and Engineering Harbin Institute of TechnologyShenzhen 518055China Department of Mechanical Engineering The Hong Kong Polytechnic UniversityHong Kong 999077China Hong Kong Institute for Advanced Study City University of Hong KongHong Kong 999077China

Ti-bearing high-entropy superalloys(HESAs)often suffer from severe intergranular embrittlement and terrible oxidation degradation at intermediate *** we showcase that minor Si addition can effectively mitigate the intergranular embrittlement and improve the oxidation resistance of the a(Ni_(2)Co_(2)FeCr)_(92) Ti_(4)Al_(4) HESA at 700℃ *** analysis revealed that the intergranu-lar G phase induced by 2 at%Si addition can effectively suppress the inward diffusion of oxygen along grain boundaries at 700℃,thus enhancing the tensile ductility of the alloy from∼8.3%to∼13.4%.Be-sides,the 2 at%Si addition facilitated the formation of a continuous Al_(2)O_(3) layer during oxidation,con-tributing to a remarkable reduction in the growth rate of the oxide scale to a quarter of the Si-free *** results demonstrate that Si can be a favorable alloying element to design advanced HESAs with syn-ergistically improved thermal-mechanical performance.

关键词： High-entropy superalloy Mechanical property Oxidation behavior Intermediate temperature Silicon addition

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Development of the high-strength ductile ferritic alloys via regulating the intragranular and grain boundary precipitation of G-phase

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Journal of Materials Science & Technology 2023年第5期136卷 180-199页

作者： Mujin Yang Chao Huang Jiajia Han Haichen Wu yilu zhao Tao Yang Shenbao Jin Chenglei Wang Zhou Li Ruiying Shu Cuiping Wang Huanming Lu Gang Sha Xingjun Liu School of Materials Science and Engineering Harbin Institute of TechnologyShenzhen 518055China Department of Mechanical and Energy Engineering Southern University of Science and TechnologyShenzhen 518055China College of Materials and Fujian Provincial Key Laboratory of Materials Genome Xiamen UniversityXiamen 361005China Test Center Ningbo Institute of Materials Technology and EngineeringChinese Academy of SciencesNingbo 315201China Department of Materials Science and Engineering City University of Hong KongHong KongChina Department of Materials Science and Engineering Nanjing University of Science and TechnologyNanjing 210094China State Key Laboratory of Advanced Welding and Joining Harbin Institute of TechnologyShenzhen 150001China Institute of Materials Genome and Big Data Harbin Institute of TechnologyShenzhen 518055China

A typical G-phase strengthened ferritic model alloy(1Ti:Fe-20Cr-3Ni-1Ti-3Si,wt.%)has been carefully studied using both advanced experimental(EBSD,TEM and APT)and theoretical(DFT)*** the classic“solid solution and aging”process,the superfine(Fe,Ni)_(2)TiSi-L2_(1)particles densely precipitate within the ferritic grain and subsequently transform into the(Ni,Fe)_(16)Ti_(6)Si_(7)-G *** the meanwhile,the elemental segregation at grain boundaries and the resulting precipitation of a large amount of the(Ni,Fe)_(16)Ti_(6)Si_(7)-G phase are also *** nanoscale microstructural evolutions result in a remarkable increase in hardness(100-300 HV)and severe *** the“cold rolling and aging”process is used,the brittle fracture is effectively suppressed without loss of nano-precipitation strengthening *** yield strength of 1700 MPa with 4%elongation at break is *** key improvement in mechanical properties is mainly attributed to the pre-cold rolling process which effectively avoids the dense precipitation of the G-phase at the grain *** findings could shed light on the further exploration of the precipitation site via optimal processing strategies.

关键词： G-phase Precipitation strengthening Grain boundary segregation Nano-precipitates

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Study of Demulsification Performance of Demulsifiers in Longdong Area Crude Oil under Low Temperature

Study of Demulsification Performance of Demulsifiers in Long...

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第十三届全国流变学学术会议

作者： Beatrice Tubuke Yin Xia Geng Jie zhao yilu Kang Wanli China University of Petroleum （East China）

The crude oil in Longdong area is produced in the form of emulsion containing associated oil and water which needs to be separated before dispatch to end user. Chemical demulsification is most widely used technology to break the emulsions. A series of experiments on low temperature demulsifies were implemented for studying demulsification performance by Bottle Test method and Turbiscan stability analyzer to study the effect of water content, temperature, and demulsifier concentrations. Rheological method is used to determine the curve of viscosity-temperature. Different commercial demulsifiers were used. Efficient low temperature AR102, AR901, PR929, and PRC06 demulsifiers were selected. PRC06 was chosen to be the best at 40℃, and when the optimal concentration was 200 mg/L, dehydration rate was 99.51%, and study was performed to observe dehydration condition of different demulsifiers, the dehydration performance was convincingly high.

关键词： demulsification performance low temperature demulsifier

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基于扫描匹配的室外环境SLAM方法

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机器人 2010年第5期32卷 655-660,665页

作者：赵一路陈雄韩建达复旦大学电子工程系上海200433 中国科学院沈阳自动化研究所辽宁沈阳110016

针对室外环境中的机器人"绑架"问题,提出了基于地图匹配的SLAM方法.该方法舍弃了机器人里程计信息,只利用局部地图和全局地图的图形相关性进行机器人定位.方法的核心是多重估计数据关联,并将奇异值分解应用到机器人位姿计算中.利用Victo... 详细信息

针对室外环境中的机器人"绑架"问题,提出了基于地图匹配的SLAM方法.该方法舍弃了机器人里程计信息,只利用局部地图和全局地图的图形相关性进行机器人定位.方法的核心是多重估计数据关联,并将奇异值分解应用到机器人位姿计算中.利用Victoria Park数据集将本算法与基于扩展卡尔曼滤波器的方法进行比较,实验结果证明了本文提出的算法的有效性.

关键词： SLAM 机器人“绑架”问题:地图匹配

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耶鲁大学的学生生活:文化冲击

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英语沙龙（高中） 2004年第3期 45-47页

作者： zhao yilu 曹元欣

我的英语词汇是我在17岁那年为应付GRE 考试靠死记硬背积累起来的。所以当宿舍里的吹风机坏了,我就大喊:"这机器让我感到气愤。"当我因为英文说得不好而感到沮丧时,我就说:"我的英文退化了。"

关键词：耶鲁大学宿舍图书馆西方文化文化冲击学生生活吹风机好朋友死记硬背柏拉图

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Recycling arsenic-containing bio-leaching residue after thermal treatment in cemented paste backfill:Structure modification,binder properties and environmental assessment

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International Journal of Minerals,Metallurgy and Materials 2024年第10期31卷 2136-2147页

作者： Dengfeng zhao Shiyu Zhang Yingliang zhao Department of Mining Engineering Lyuliang UniversityLvliang 033000China School of Civil and Environmental Engineering University of Science and Technology BeijingBeijing 100083China School of Mining Engineering Taiyuan University of TechnologyTaiyuan 030024China Department of Civil and Environmental Engineering The Hong Kong Polytechnic UniversityHong Kong 00852China

The substantial arsenic(As)content present in arsenic-containing bio-leaching residue(ABR)presents noteworthy environ-mental challenges attributable to its inherent instability and susceptibility to *** its elevated calcium sulfate content,ABR exhibits considerable promise for industrial *** study delved into the feasibility of utilizing ABR as a source of sulfates for producing super sulfated cement(SSC),offering an innovative binder for cemented paste backfill(CPB).Thermal treatment at varying temperatures of 150,350,600,and 800℃ was employed to modify ABR’s *** investigation encompassed the examination of phase transformations and alterations in the chemical composition of As within ***,the hydration characteristics of SSC utilizing ABR,with or without thermal treatment,were studied,encompassing reaction kinetics,setting time,strength development,and *** findings revealed that thermal treatment changed the calcium sulfate structure in ABR,consequently impacting the resultant sample ***,calcination at 600℃ demonstrated optimal modification effects on both early and long-term strength *** enhanced performance can be attributed to the augmented formation of reaction products and a densified ***,the thermal treatment elicited modifications in the chemical As fractions within ABR,with limited impact on the As immobilization capacity of the prepared binders.

关键词： cemented paste backfill bio-leaching residue arsenic immobilization binder hydration calcination

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