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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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个人信息保护公益诉讼的制度检讨与规范续造——以《个人信息保护法》第七十条为中心

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河南财经政法大学学报 2024年第4期39卷 103-111页

作者：华梓善张安毅华东政法大学财税法研究中心上海200042 河南财经政法大学民商经济法学院河南郑州450046

《个人信息保护法》第七十条确立了我国个人信息保护公益诉讼的基本框架,但在司法实践中还存在起诉条件模糊、起诉主体职权范围和顺位不明、个人信息保护公益诉讼独立性不足、能否适用惩罚性赔偿存在争议等问题。从维护公益的制度目的来... 详细信息

《个人信息保护法》第七十条确立了我国个人信息保护公益诉讼的基本框架,但在司法实践中还存在起诉条件模糊、起诉主体职权范围和顺位不明、个人信息保护公益诉讼独立性不足、能否适用惩罚性赔偿存在争议等问题。从维护公益的制度目的来看,“侵害众多个人的权益”的起诉条件不是一个需要量化的问题;基于弥补个人诉讼的不足,检察机关、消费者组织、国家网信部门确定的组织应侧重在个人信息保护公益诉讼的不同领域发挥作用;为强化个人信息保护公益诉讼的独立性,需要完善检察机关提起公益诉讼的职能;为遏制侵权行为的再次发生,在个人信息保护公益诉讼中有必要适用惩罚性赔偿,但需要明确其适用要件、赔偿金额的计算方法并规范赔偿资金的管理使用。

关键词：个人信息公益诉讼起诉赔偿

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A carbon nanofiber network for stable lithium metal anodes with high Coulombic efficiency and long cycle life

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Nano Research 2016年第11期9卷 3428-3436页

作者： anyi zhang Xin Fang Chenfei Shen Yihang Liu Chongwu Zhou Mork Family Department of Chemical Engineering and Materials Science University of Southern California Los Angeles 90089 USA Ming Hsieh Departmen t of Electrical Engineering University of Southern California Los Angeles 90089 USA

Li metal is considered one of the most promising candidates for the anode material in high-energy-density Li-ion batteries. However, the dendritic growth of Li metal during the plating/stripping process can severely reduce Coulombic efficiency and cause safety problems, which is a key issue limiting the application of Li metal anodes. Herein, we present a novel strategy for dendrite-free deposition of Li by modifying the Cu current collector with a three-dimensional carbon nanofiber （CNF） network. Owing to the large surface area and high conductivity of the CNF network, Li metal is inserted into and deposited onto the CNF directly, and no dendritic Li metal is observed, leaving a flat Li metal surface. With Li metal as the counter electrode for Li deposition, an average Coulombic efficiency of 99.9% was achieved for more than 300 cycles, at large current densities of 1.0 and 2.0 mA·cm^-2, and with a high Li loading of 1 mAh·cm^-2. The scalability of the preparation method and the impressive results achieved here demonstrate the potential for the application of our design to the future development of dendrite-free Li metal anodes.

关键词： lithium-ion batteries lithium metal anode carbon nanofiber three-dimensionalconductive network

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Scalable preparation of porous silicon nanoparticles and their application for lithium-ion battery anodes

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Nano Research 2013年第3期6卷 174-181页

作者： Mingyuan Ge Jiepeng Rong Xin Fang anyi zhang Yunhao Lu Chongwu Zhou Department of Chemical Engineering and Materials Science University of Southern California 3710 McClintockAve Los Angeles CA 90089 USA Department of Materials Science and Engineering Zhejiang University 38 Zheda Road Hangzhou 310027 China Department of Electrical Engineering University of Southern California 3710 McClintock Ave Los Angeles CA 90089 USA

Nanostructured silicon has generated significant excitement for use as the anode material for lithium-ion batteries; however, more effort is needed to produce nanostructured silicon in a scalable fashion and with good performance. Here, we present a direct preparation of porous silicon nanoparticles as a new kind of nanostructured silicon using a novel two-step approach combining controlled boron doping and facile electroless etching. The porous silicon nanoparticles have been successfully used as high performance lithium-ion battery anodes, with capacities around 1,400 mA.h/g achieved at a current rate of 1 A/g, and 1,000 mA.h/g achieved at 2 A/g, and stable operation when combined with reduced graphene oxide and tested over up to 200 cycles. We attribute the overall good performance to the combination of porous silicon that can accommodate large volume change during cycling and provide large surface area accessible to electrolyte, and reduced graphene oxide that can serve as an elastic and electrically conductive matrix for the porous silicon nanoparticles.

关键词： porous siliconnanoparticles scalable production lithium-ion battery

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Single-step flash-heat synthesis of red phosphorus/ graphene flame-retardant composite as flexible anodes for sodium-ion batteries

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Nano Research 2018年第7期11卷 3780-3790页

作者： Yihang Liu anyi zhang Chenfei Shen Qingzhou Liu Jiansong Cai Xuan Cao Chongwu Zhou Ming Hsieh Department of Electrical Engineering University of Southern California Los Angeles California 90089 USA Mork Family Department of Chemical Engineering and Materials Science University of Southern California Los Angeles California 90089 USA

Red phosphorus （RP） has attracted considerable attention as the anode for high-performance Na-ion batteries, owing to its low cost and high theoretical specific capacity of -2,600 mAh/g. In this study, a facile single-step flash-heat treatment was developed to achieve the reduction of graphene oxide （GO） and the simultaneous deposition of RP onto the reduced graphene oxide （rGO） sheets. The resulting RP/rGO composite was shown to be a promising candidate for overcoming the issues associated with the poor electronic conductivity and large volume variation of RP during cycling. The RP/rGO flexible film anode delivered an average capacity of 1,625 mAh/g during 200 cycles at a charge/ discharge current density of 1 A/g. Average charge capacities of 1,786, 1,597, 1,324, and 679 mAh/g at 1, 2, 4, and 6 A/g current densities were obtained in the rate capability tests. Moreover, owing to the RP component, the RP/rGO film presented superior flame retardancy compared to an rGO film. This work thus introduces a highly accessible synthesis method to prepare flexible and safe RP anodes with superior electrochemical performance toward Na-ion storage.

关键词： sodium-ion batteries red phosphorus facile synthesis flexible flame-retardant reduced graphene oxide

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=unctional interlayer of PVDF-HFP and carbon nanofiber for long-life lithium-sulfur batteries

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Nano Research 2018年第6期11卷 3340-3352页

作者： anyi zhang Xin Fang Chenfei Shen Yihang Liu In Gi Seo Yuqiang Ma Liang Chen Patrick Cottingham Chongwu Zhou Mork Family Department of Chemicol Engineering and Materials Science University of Southern California Los Angeles California 90089 USA Ming Hsieh Department of Electrical Engineering University of Southern California Los Angeles California 90089 USA Department of Physics and Astronomy University of Southern California Los Angeles California 90089 USA Department of Chemistry University of Southern California Los Angeles California 90089 USA

In the present work we develop a scalable and inexpensive design for lithium- sulfur （Li-S） batteries by capping a flexible gel polymer/carbon nanofiber （CNF） composite membrane onto a free-standing and binder-free CNF ＋ ni2s6 cathode, thus achieving a three-dimensional （3D） structural design. The CNF network is used as the current collector and S holder to overcome the insulating nature and volume expansion of S, while the composite membrane comprises a gel polymer poly（vinylidene fluoride-co-hexafluoropropylene）（PVDF-HFP）, and CNF additive is used as an interlayer to trap polysulfides and recycle the remaining S species, leading to a high specific capacity and long cycle life. This 3D structure enables excellent cyclability for 500 cycles at 0.5℃ with a small capacity decay of 0.092% per cycle. Furthermore, an outstanding cycle stability was also achieved at even higher current densities （1.0 to 2.0℃）, indicating its good potential for practical applications of Li-S batteries.

关键词： lithium-sulfur batteries poly(vinylidene fluoride-co-hexafluoropropylene)(PVDF-HFP) gel polymer electrolyte carbon nanofiber conductive network

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Quasi-two-dimensionalβ-Ga2O3 field effect transistors with large drain current density and low contact resistance via controlled formation of interfacial oxygen vacancies

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Nano Research 2019年第1期12卷 143-148页

作者： Zhen Li Yihang Liu anyi zhang Qingzhou Liu Chenfei Shen Fanqi Wu Chi Xu Mingrui Chen Hongyu Fu Chongwu Zhou Ming Hsieh Department of Electrical Engineering Mork Family Department of Chemical Engineering and Material ScienceDepartment of Physics and AstronomyUniversity of Southern CalifomiOy Los AngelesCalifornia 90089USA

Quasi-two-dimensi on al(2D)β-Ga2O3 is a rediscovered metal-oxide semiconductor with an ultra-wide bandgap of *** has been reported to be a promising material for next-generation power and radio frequency *** effect transistors(FETs)that can switch at high voltage are key compone nts in power and radio frequency devices,and reliable Ohmic con tacts are essential for high FET ***,obtaining low contact resistance onβ-Ga2O3 FETs is difficult since reactions betweenβ-Ga2O3 and metal contacts are not fully ***,we experimentally demonstrate the importanee of reactions at the metal/β-Ga2O3 interface and the corresponding effects of these reactions on FET *** Ti is employed as the metal contact,annealing ofβ-Ga2O3 FETs in argon can effectively transform Schottky contacts into Ohmic contacts and permit a large drain current density of-3.1 mA//μ*** contact resistance(Rcontact)between the Ti electrodes andβ-Ga2O3 decreased from^430 to^0.387Ω·mm after annealing.X-ray photoelectron spectroscopy(XPS)confirmed the formation of oxygen vacancies at the Ti/β-Ga2O3 interface after annealing,which is believed to cause the improved FET *** results of this study pave the way for greater application ofβ-Ga2O3 in electronics.

关键词： quasi-two-dimensional material metal-oxides field effect transistor β-Ga2O3 contact resistanee

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Optic nerve injury-induced regeneration in the adult zebrafish is accompanied by spatiotemporal changes in mitochondrial dynamics

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Neural Regeneration Research 2023年第1期18卷 219-225页

作者： An Beckers Luca Masin Annelies Van Dyck Steven Bergmans Sophie Vanhunsel anyi zhang Tine Verreet Fabienne EPoulain Karl Farrow Lieve Moons Neural Circuit Development and Regeneration Research Group Animal Physiology and Neurobiology SectionDepartment of BiologyKatholieke Universiteit LeuvenLeuvenBelgium Poulain Lab Department of Biological SciencesUniversity of South CarolinaColumbiaSCUSA Neuro-Electronics Research Flanders Vlaams Instituut voor Biotechnologie(VIB)LeuvenBelgium Leuven Brain Institute LeuvenBelgium Imec LeuvenBelgium

Axonal regeneration in the central nervous system is an energy-intensive *** contrast to mammals,adult zebrafish can functionally recover from neuronal *** raises the question of how zebrafish can cope with this high energy *** previously showed that in adult zebrafish,subjected to an optic nerve crush,an antagonistic axon-dendrite interplay exists wherein the retraction of retinal ganglion cell dendrites is a prerequisite for effective axonal *** postulate a‘dendrites for regeneration’paradigm that might be linked to intraneuronal mitochondrial reshuffling,as ganglion cells likely have insufficient resources to maintain dendrites and restore axons ***,we characterized both mitochondrial distribution and mitochondrial dynamics within the different ganglion cell compartments(dendrites,somas,and axons)during the regenerative *** nerve crush resulted in a reduction of mitochondria in the dendrites during dendritic retraction,whereafter enlarged mitochondria appeared in the optic nerve/tract during axonal *** dendritic regrowth in the retina,mitochondrial density inside the retinal dendrites returned to baseline ***,a transient increase in mitochondrial fission and biogenesis was observed in retinal ganglion cell somas after optic nerve *** together,these findings suggest that during optic nerve injury-induced regeneration,mitochondria shift from the dendrites to the axons and back again and that temporary changes in mitochondrial dynamics support axonal and dendritic regrowth after optic nerve crush.

关键词： axonal regeneration central nervous system dendrite remodeling energy metabolism fission mitochondria mitochondrial trafficking optic nerve crush retina zebrafish

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Gold-vapor-assisted chemical vapor deposition of aligned monolayer WSe2 with large domain size and fast growth rate

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Nano Research 2020年第10期13卷 2625-2631页

作者： Mingrui Chen anyi zhang Yihang Liu Dingzhou Cui Zhen Li Yu-Han Chung Sai Praneetha Mutyala Matthew Mecklenburg Xiao Nie Chi Xu Fanqi Wu Qingzhou Liu Chongwu Zhou Mork Family Department of Chemical Engineering and Materials Science Ming Hsieh Department of Electrical EngineeringCore Center of Excellence in Nano Imaging and Department of Physics and AstronomyUniversity of Southern CaliforniaLos AngelesCA 90089USA

Orientation-controlled growth of two-dimensional(2D)transition metal dichalcogenides(TMDCs)may enable many new electronic and optical ***,previous studies reporting aligned growth of WSe2 usually yielded very small domain ***,we introduced gold vapor into the chemical vapor deposition(CVD)process as a catalyst to assist the growth of WSe2 and successfully achieved highly aligned monolayer WSe2 triangular flakes grown on c-plane sapphire with large domain sizes(130μm)and fast growth rate(4.3μm·s^−1).When the aligned WSe2 domains merged together,a continuous monolayer WSe2 was formed with good *** transferring to Si/SiO2 substrates,field effect transistors were fabricated on the continuous monolayer WSe2,and an average mobility of 12 cm^2·V^−1·s−1 was achieved,demonstrating the good quality of the *** report paves the way to study the effect of catalytic metal vapor in the CVD process of TMDCs and contributes a novel approach to realize the growth of aligned TMDC flakes.

关键词： two-dimensional materials transition metal dichalcogenides tungsten diselenide(WSe2) chemical vapor deposition aligned growth

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Tailored multifunctional hydrazine derivatives for efficient printable hole-conductive-free mesoscopic perovskite solar cells via enhancing defect passivation

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Journal of Energy Chemistry 2024年第8期95卷 357-363,I0008页

作者： Minghao Xia Ziwei Zheng Yanjie Cheng Chaoyang Wang Zhaozhen Cui Guodong zhang Jinwei Gonga anyi Mei Hongwei Han Michael Grätzel Center for Mesoscopic Solar Cells Wuhan National Laboratory for OptoelectronicsKey Laboratory of Materials Chemistry for Energy Conversion and Storage of Ministry of EducationHuazhong University of Science and TechnologyWuhan 430074HubeiChina Key Laboratory of Flexible Electronics(KLoFE)&Institute of Advanced Materials(IAM) School of Flexible Electronics(Future Technologies)Nanjing Tech University(NanjingTech)Nanjing 211816JiangsuChina

The low-cost and easy large-scale fabrication advantages of printable mesoscopic perovskite solar cells(p-MPSCs)are overshadowed by their limited photovoltaic conversion efficiency(PCE).Here,we introduce the hydrazide derivative of 4-Hydroxybenzoylhydrazine(4-HBH)to improve the PCE of p-MPSCs by inducing enhanced defect *** carbonyl and hydrazine groups in hydrazide groups present strong interaction with *** hydroxyl group,as an electron donor group,increases the electron cloud density of the hydrazide group in 4-HBH under the conjugation of the benzene ring,and thus enhances its interaction with ***,the hydroxy group itself interacts with perovskite and passivates defects *** hydrazine agents can also reduce I2and suppress the loss of iodine in perovskite films,which inhibits the formation of iodine-related ***,p-MPSCs with 4-HBH achieve a high PCE of 19.21%,and present well improved stability.

关键词： Printable mesoscopic perovskite solar cells Multifunctional hydrazine derivatives Cooperative coordination Conjugation redox activity

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