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

Science China(Life Sciences) 2024年第11期67卷 2368-2381页

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)Beijing 100191China Chinese Academy of Medical Sciences Research Unit(No.2018RU006) Peking UniversityBeijing 100191China School of Nursing Peking UniversityBeijing 100191China Wuhan Biobank Wuhan 430075China National Institute on Drug Dependence Peking UniversityBeijing 100191China

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.

关键词： autism whole-genome sequencing de novo variants inherited variants SNV structural variants

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Lamellar-stacked cobalt-based nanopiles integrated with nitrogen/sulfur co-doped graphene as a bifunctional electrocatalyst for ultralong-term zinc-air batteries

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Journal of Energy Chemistry 2023年第6期81卷 633-641,I0014页

作者： lingxue Meng Wenwei Liu Yang Lu Zhenyi Liang Ting He Jinying Li Haoxiong Nan Shengxu luo Jia Yu School of Science Hainan UniversityHaikou 570228HainanChina Materials Genome Institute Shanghai UniversityShanghai 200444China Beijing Key Laboratory of Green Chemical Reaction Engineering and Technology Department of Chemical EngineeringTsinghua UniversityBeijing 100084China Department of Chemistry College of SciencesShanghai UniversityShanghai 200444China

Sluggish oxygen evolution reaction(OER)and oxygen reduction reaction(ORR)kinetics inevitably impede the practical performance of rechargeable zinc-air ***,combing the structural designability of transition metal-based electrocatalysts with anionic regulation is highly ***,mesoporous lamellar-stacked cobalt-based nanopiles with surface-sulfurization modification are elaborately designed and integrated with N/S co-doped graphene to build a robust OER/ORR bifunctional *** lamellar-stacking mode of mesoporous nanosheets with abundant channels accelerates gas-liquid mass transfer,and partial-sulfurization of cobalt-based matrix surface efficiently improves the intrinsic OER ***,N/S co-doped graphene further reinforces the ORR active sites while providing a stable conductive *** expected,this composite electrocatalyst delivers considerable bifunctional activity and stability,with an OER overpotential of 323 m V at 10 m A cm^(-2)and high *** applied in zinc-air batteries,remarkable ultralong-term stability over 4000 cycles and a maximum power density of 150.1 m W cm^(-2)are *** work provides new insight into structurecomposition synergistic design of rapid-kinetics OER/ORR bifunctional electrocatalyst for nextgeneration metal-air batteries.

关键词： Lamellar-stacking nanopile Co_(3)O_(4) Anionic regulation Oxygen evolution reaction Oxygen reduction reaction Zinc–air battery

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Improving the activity of electrochemical reduction of CO_(2) to C_(1) products by oxidation derived copper catalyst

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Materials Reports(Energy) 2023年第1期3卷 107-114,I0004页

作者： lingxue Diao Yingda Liu Feifei Chen Hong Pan David Perez de Lara Hui Liu Yahui Cheng Feng luo Department of Electronic Science and Engineering and Tianjin Key Laboratory of Process Control and Green Technology for Pharmaceutical Industry Nankai UniversityTianjin300350China Department of Basic Science Tianjin Agricultural UniversityTianjin300392China IMDEA Nanosci Faraday 9Ciudad Univ CantoblancoMadrid28049Spain Tianjin Key Lab for Rare Earth Materials and Applications Center for Rare Earth and Inorganic Functional MaterialsSchool of Materials Science and EngineeringNankai UniversityTianjin300350China

Cu-based electrocatalysts have become the focus in the field of electrochemical CO_(2) reduction reaction(ECO_(2) RR)due to their ability to produce multicarbon ***,the research on generating single carbon products with higher economic feasibility via ECO_(2) RR based on Cu-based electrocatalysts is rather rare,and the roles of the surface architecture and oxides of the electrocatalysts have not been explained *** this work,a two-step method including thermal oxidation and electroreduction is proposed to introduce Cuþinto pure Cu foil to form Cu_(2)O/Cu *** regulating the surface composition and morphology of the electrocatalyst in this way,the activity of ECO 2 RR to C_(1) products has been greatly *** Faradaic efficiency of carbon products of the Cu_(2)O/Cu electrode reaches 84%at?0.7 V *** with good selectivity for HCOOH and *** current density of Cu_(2)O/Cu electrode reaches-12.21 mA cm^(2) at-0.8 V ***,which is much higher than that of the Cu foil electrode(?0.09 mA cm?2).In-situ Raman characterization shows that Cuþin Cu_(2)O/Cu electrode could inhibit hydrogen generation and promote ECO_(2) RR by stabilizing the adsorption of CO_(2).

关键词： Cu-based electrocatalyst Electroreduction of CO_(2) In-situ Raman spectra C_(1)product

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独立成分分析及其在图像处理中的应用

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光学技术 2012年第5期38卷 520-527页

作者：骆媛王岭雪金伟其北京理工大学光电学院光电成像技术与系统教育部重点实验室北京100081

独立成分分析是一种新的信号处理技术,在数字图像处理的诸多方向均表现出其独特性。对独立成分分析(ICA,Independent Component Analysis)及其在图像处理中的应用进行了综述。简要介绍了独立成分分析的数学模型,给出了极大化非高斯性的... 详细信息

独立成分分析是一种新的信号处理技术,在数字图像处理的诸多方向均表现出其独特性。对独立成分分析(ICA,Independent Component Analysis)及其在图像处理中的应用进行了综述。简要介绍了独立成分分析的数学模型,给出了极大化非高斯性的ICA估计方法、极大似然ICA估计方法、极小化互信息ICA估计方法的目标函数及其优化算法;对ICA在像素级图像融合、运动目标检测、人脸检测及特征提取、大脑信号和图像分析、数字水印、有噪图像分离等方向的应用研究进行了评述,进而显示ICA的应用价值和发展空间。

关键词：图像处理独立成分分析极大化非高斯性极大似然极小化互信息

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基于场景理解的双波段彩色融合图像质量评价

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红外与激光工程 2014年第1期43卷 300-305页

作者：高绍姝金伟其王岭雪骆媛李家琨北京理工大学光电学院光电成像技术与系统教育部重点实验室北京100081 中国石油大学(华东)计算机与通信工程学院山东青岛266580

图像质量评价是双波段彩色融合处理算法及系统评价的基础,文中研究了一种可见光与红外彩色融合图像质量评价方法。提出了基于场景理解的图像感知质量PQSU综合评价指标,选择三类典型场景彩色融合图像进行了主观视觉评价实验;通过对已有... 详细信息

图像质量评价是双波段彩色融合处理算法及系统评价的基础,文中研究了一种可见光与红外彩色融合图像质量评价方法。提出了基于场景理解的图像感知质量PQSU综合评价指标,选择三类典型场景彩色融合图像进行了主观视觉评价实验;通过对已有评价指标与PQSU综合指标的主观评价实验结果进行多元线性回归分析,建立了PQSU的预测模型。结果表明:融合图像的场景颜色协调性与自然感高度相关;利用图像清晰度和颜色协调性可以有效地预测PQSU;针对不同场景类型,已有评价指标在PQSU的预测模型中所占的权重有所不同,但预测模型的基本形式保持不变。文中提出的PQSU及其预测模型为进一步发展融合图像质量客观评价模型奠定了基础。

关键词：质量评价彩色融合主观评价评价指标

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Structure and Properties of Self-assembled Narural Rubber/Multi-walled Carbon Nanotube Composites

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Journal of Wuhan University of Technology(Materials Science) 2011年第5期26卷 807-811页

作者：彭政罗勇悦 Chinese Agricultural Ministry Key Laboratory of Tropical Crop Product Processing Agricultural Product Processing Research InstituteChinese Academy of Tropical Agricultural Sciences

Natural rubber （NR）/multi-walled carbon nanotube （MWCNTs） composites were prepared by combining self-assembly and latex compounding *** acid-treated MWCNTs （H2SO4：HNO3=3：1,volume ratio） were self-assembled with poly （diallyldimethylammonium chloride）（PDDA） through electrostatic *** the second assembling,NR/MWCNTs composites were developed by mixing MWCNTs/PDDA solution with NR *** results show that MWCNTs are homogenously distributed throughout the NR matrix as single tube and present a great interfacial adhesion with NR phase when MWCNTs contents are less than 3 wt%.Moreover,the addition of the MWCNTs brings about the remarkable enhancement in tensile strength and crosslink density compared with the NR host,and the data peak at 2 wt% MWCNTs *** more MWCNTs are loaded,aggregations of MWCNTs are gradually generated,and the tensile strength and crosslink both decrease to a certain extent.

关键词： natural rubber (NR) multi-walled carbon nanotube (MWCNTs) composites latex compounding self-assembly

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多波段热成像阿基米德螺旋线推扫滤光盘工程设计

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红外技术 2019年第9期41卷 799-805页

作者：罗秀丽马俊卉陈东启蔡毅王岭雪黄攀王彩萍罗宏北京理工大学光电学院纳米光子学与超精密光电系统北京市重点实验室光电成像技术与系统教育部重点实验室北京100081 云南北方驰宏光电有限公司云南昆明650214

将阿基米德螺旋线近似逐行推扫的滤光方式与非制冷焦平面探测器(FPA)逐行积分读出进行同步,滤光当前行的同时读出上一行的数据,可改善分时滤光多波段热成像系统的FPA使用效率,从而提高系统帧率。本文从工程应用的角度出发,对阿基米德螺... 详细信息

将阿基米德螺旋线近似逐行推扫的滤光方式与非制冷焦平面探测器(FPA)逐行积分读出进行同步,滤光当前行的同时读出上一行的数据,可改善分时滤光多波段热成像系统的FPA使用效率,从而提高系统帧率。本文从工程应用的角度出发,对阿基米德螺旋线滤光盘(阿盘)的多波段滤光、推扫滤光与FPA逐行读出的时间同步、多波段序列图像的帧识别、阿盘的整机集成等问题进行探讨,为新型多波段热成像系统的设计提供工程经验。

关键词：阿基米德螺旋线推扫滤光盘多波段热成像光学气体成像工程设计

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