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PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

World Journal of Pediatrics 2024年第1期20卷 82-91页

作者： Han Zhang Kai Gao shuang Wang Yue-Hua Zhang Zhi-Xian Yang Ye Wu Yu-Wu jiang Department of Pediatrics Peking University First Hospital.No.1 Xi'an Men StreetWest DistrictBeijing 100034China Bejing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases BeijingChina Children Epilepsy Center Peking University First HospitalBeijingChina Key Laboratory for Neuroscience Ministry of Education/National Health and Family Planning CommissionPeking UniversityBeijingChina Center of Epilepsy Beijing Institute for Brain DisordersBeijingChina

Background The PACS gene family has been demonstrated to be related to intracellular vesicular *** phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disability/developmental delay,and malformations,such as facial *** We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation *** information obtained from these patients was analyzed along with that obtained from previously reported *** With the inclusion of the newly diagnosed cases in this study,103 cases with PACS gene family-related neurological diseases were reported,of which 43 were PACS2-related cases and the remaining were PACSI-related *** patients had seizures,which have been reported to be effectively controlled by several types of anti-seizure medications(ASMs).The most efficacious and frequently prescribed ASMs included sodium valproate(43.3%,13/30),oxcarbazepine/carbamazepine(26.7%,8/30),and levetiracetam(20%,6/30).Almost all patients had intellectual disability/developmental *** most common pathogenic missense variants were PACSI ***203Trp and PACS2 *** addition,we report a patient carrying a likely pathogenic copy number variation(CNV)(de novo heterozygous deletion of chr14:105821380-106107443,286 kilobase,destroyed part of the furin-binding region domain and the protein structure after it)with more severe and refractory late-onset *** The clinical phenotypes of the different PACS heterozygous missense variants were *** pathogenic variant sites of PACSI and PACS2 were quite limited but located in different regions.A CNV destroying part of the PACS2 gene might also be *** findings may provide an important clue for further functional studies on the pathogenic mechanism of neurological disorders related to the PACS gene family.

关键词： Developmental delay Epilepsy Intellectual disability PACSI PACS2

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Tuning the membrane rejection behavior by surface wettability engineering for an effective water-in-oil emulsion separation

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Chinese Chemical Letters 2024年第6期35卷 480-485页

作者： Yan Zou Yin-shuang Hu Deng-Hui Tian Hong Wu Xiaoshu Lv Guangming jiang Yu-Xi Huang Engineering Research Center for Waste Oil Recovery Technology and Equipment Ministry of EducationChongqing Technology and Business UniversityChongqing 400067China School of Environmental Science and Engineering Sun Yat-sen UniversityGuangzhou 510275China Guangdong Provincial Key Laboratory of Environmental Pollution Control and Remediation Technology(Sun Yat-sen University) Guangzhou 510275China

Membrane-based separation is a promising technology to eliminate water impurities from the oil ***,it remains a great challenge to separate water from highly emulsified viscous oil owing to the high stability of the water droplets in *** we report a surface wettability engineering on an alumina ceramic membrane to achieve an efficient separation of a water-in-oil(W/O)*** with different carbon chain lengths and fluorinated status were introduced to endow the alumina membrane with different surface *** all the modified membranes exhibited excellent separation of the W/O without Span 80(surfactant),the one with amphiphobic wettability and lowest surface energy failed to separate the Span 80 stabilized W/*** presence of Span 80 reduced the interfacial tension of water droplets,making them easier to deform and penetrate the modified membrane with the lowest surface *** reveals that engineering proper surface wettability is the key to separating the oil and water ***,the modified membranes maintained decent separation performance and stability under long-term run separation of the emulsified W/O.

关键词： Water-in-oil emulsion Ceramic membrane Membrane separation Surface wettability

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Mitigation of N_(2)O emissions in water-saving paddy fields:Evaluating organic fertilizer substitution and microbial mechanisms

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Journal of Integrative Agriculture 2024年第9期23卷 3159-3173页

作者： Delei Kong Xianduo Zhang Qidong Yu Yaguo Jin Peikun jiang shuang Wu Shuwei Liu Jianwen Zou College of Environment and Resources/College of Carbon Neutrality Zhejiang A&F UniversityHangzhou 311300China jiangsu Key Laboratory of Low Carbon Agriculture and GHGs Mitigation College of Resources and Environmental SciencesNanjing Agricultural UniversityNanjing 210095China Department of Biochemistry and Molecular Biology College of Life SciencesNanjing Agricultural UniversityNanjing 210095China jiangsu Key Lab and Engineering Center for Solid Organic Waste Utilization Jiangsu Collaborative Innovation Center for Solid Organic Waste Resource UtilizationNanjing Agricultural UniversityNanjing 210095China

Water-saving irrigation strategies can successfully alleviate methane emissions from rice fields,but significantly stimulate nitrous oxide(N_(2)O)emissions because of variations in soil oxygen level and redox ***,the relationship linking soil N_(2)O emissions to nitrogen functional genes during various fertilization treatments in water-saving paddy fields has rarely been ***,the mitigation potential of organic fertilizer substitution on N_(2)O emissions and the microbial mechanism in rice fields must be further *** study examined how soil N_(2)O emissions were affected by related functional microorganisms(ammonia-oxidizing archaea(AOA),ammonia-oxidizing bacteria(AOB),nirS,nirK and nosZ)to various fertilization treatments in a rice field in southeast China over two *** this study,three fertilization regimes were applied to rice cultivation:a no nitrogen(N)(Control),an inorganic N(Ni),and an inorganic N with partial N substitution with organic manure(N_(i)+N_(o)).Over two rice-growing seasons,cumulative N_(2)O emissions averaged 0.47,4.62 and 4.08 kg ha^(−1)for the Control,Ni and N_(i)+N_(o)treatments,*** comparison to the Ni treatment,the N_(i)+N_(o)fertilization regime considerably reduced soil N_(2)O emissions by 11.6%while maintaining rice yield,with a lower N_(2)O emission factor(EF)from fertilizer N of 0.95%.Nitrogen fertilization considerably raised the AOB,nirS,nirK and nosZ gene abundances,in comparison to the Control ***,the substitution of organic manure for inorganic N fertilizer significantly decreased AOB and nirS gene abundances and increased nosZ gene *** AOB responded to N fertilization more sensitively than the *** N_(2)O emissions significantly correlated positively with AOB and nirS gene abundances while having a negative correlation with nosZ gene abundance and the nosZ/nirS ratio across N-fertilized *** summary,we conclude that organic manure substi

关键词： organic manure substitution inorganic fertilizer N_(2)O functional microbe rice paddy

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Facile identification of fluorosurfactant category in aqueous film-forming foam concentrates via optimized^(19)F NMR

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Magnetic Resonance Letters 2024年第3期4卷 42-51页

作者： Peiyao Chen shuang Zhuang Weiguang Chen Zhijian Chen Rongzhen Li Fangyu Chen Tingting jiang Xiaobin Fu Tianjin Fire Research Institute of MEM Tianjin300381China Department of Chemistry School of ScienceTianjin UniversityTianjin300354China Department of Chemistry School of ScienceTianjin Chengjian UniversityTianjin300384China Department of Molten Salt Chemistry and Engineering Shanghai Institute of Applied PhysicsChinese Academy of SciencesShanghai201800China

Aqueous film-forming foams(AFFFs)are the primary source of toxic perfluoroalkyl and polyfluoroalkyl substances(PFAS)in ***,it is urgent to develop a facile and fast method for identifying fluorosurfactants in commercially available *** this work,fluorine nuclear magnetic resonance(^(19)F NMR)spectroscopy was optimized to measure AFFFs directly with the extra addition of 5%D_(2)O as the locking reagent,and high-quality spectra could be acquired within 4 min(0.1%fluorosurfactant content).Recovery experiments demonstrated that the use of different AFFFs had no marked influence on the quantitative analysis of *** method works with low-field NMR spectroscopy(1.4 T)as ***-dimensional(2D)^(19)F COSY NMR was used to make signal assignments for different fluorosurfactant *** optimized ^(19)F NMR could quantify the commercially available fluorosurfactants in different AFFFs,identify them being in either the perfluorooctane sulfonate(PFOS)or fluorotelomer sulfonic acid(FTS)categories,and distinguish the head-group of PFOS and FTS derivatives,which exhibits great potentials in the developments of relevant commercial detections.

关键词： Aqueous film-forming foams Fluorosurfactants 19F NMR Perfluorooctane sulfonate

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Permeability and selectivity synergistically enhanced nanofluidic membrane for osmotic energy harvesting

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Carbon Energy 2024年第8期6卷 14-24页

作者： Jundong Zhong Tingting Xu Hongyan Qi Weibo Sun shuang Zhao Zhe Zhao Yirong Sun Youliang Zhu Jianxin Mu Haibo Zhang Xuanbo Zhu Zhenhua jiang Lei jiang National and Local Joint Engineering Laboratory for Synthetic Technology of High‐Performance Polymer Jilin UniversityChangchunJilinChina State Key Laboratory of Supramolecular Structure and Materials Jilin UniversityChangchunJilinChina Key Laboratory for Molecular Enzymology and Engineering of Ministry of Education Jilin UniversityChangchunJilinChina CAS Key Laboratory of Bio‐inspired Materials and Interfacial Science Technical Institute of Physics and ChemistryChinese Academy of SciencesBeijingChina

For the porous‐membrane‐based osmotic energy generator,the potential synergistic enhancement mechanism of various key parameters is still controversial,especially because optimizing the trade‐off between permeability and selectivity is still a ***,to construct a permeability and selectivity synergistically enhanced osmotic energy generator,the twodimensional porous membranes with tunable charge density are prepared by inserting sulfonated polyether sulfone into graphene *** of charge density and pore size on the ion transport are explored,and the ionic behaviors in the channel are calculated by numerical *** mechanism of ion transport in the process is studied in depth,and the fundamental principles of energy conversion are *** results demonstrate that charge density and pore size should be matched to construct the optimal ion *** collaborative enhancement strategy of permeability and selectivity has significantly improved the output power in osmotic energy generation;compared to the pure graphene oxide membrane,the composite membrane presents almost 20 times improvement.

关键词： blue energy generator charge tunable graphene oxide ion transport layered nanocomposites

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Effective assignment of positional isomers in dimeric shikonin and its analogs by ^(1)H NMR spectroscopy

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Chinese Chemical Letters 2024年第5期35卷 223-226页

作者： Ling-Hao Zhao Hai-Wei Yan Jian-shuang jiang Xu Zhang Xiang Yuan Ya-Nan Yang Pei-Cheng Zhang State Key Laboratory of Bioactive Substance and Function of Natural Medicines Institute of Materia MedicaChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100050China

An approach for distinguishing two types of positional isomers of dimeric shikonin and its analogs was explored with ^(4)JC,H long-range correlation by prolonging the acquisition time at ^(2,3)JC,H values of 2.0 and ***,the ^(1)H(proton)nuclear magnetic resonance(NMR)pattern of phenolic hydroxyl protons was developed as a“diagnosis signal”to ascertain the relative location of each side chain in DMSO-d_(6) at sample concentrations of 0.022-0.034 mol/*** chemical shift differences of 0.6ppm between OH-5' and OH-1 and between OH-8'and OH-4 are assigned to Type A and Type B,*** reported ambiguous structures were corrected by this ***,the steric structures of isolated compounds were elucidated by quantum chemical calculations of electronic circular dichroism(ECD)spectra.

关键词： Arnebia euchroma Dimeric hydroxyl naphthoquinones Positional isomers ^(1)H NMR spectroscopy Chemical shift difference

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Neosophoflavonoids A–C, A class of highly oxidized hybrid flavonoids from Sophora flavescens with antidiabetic effects

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Chinese Chemical Letters 2024年第10期35卷 295-298页

作者： Xu Zhang jiang Li Kai-Zhou Lu Ya-Nan Yang Jian-shuang jiang Xiang Yuan Zi-Ming Feng Fei Ye Pei-Cheng Zhang State Key Laboratory of Bioactive Substance and Function of Natural Medicines Institute of Materia MedicaChinese Academy of Medical Sciences and PekingUnionMedical CollegeBeijing100050China

Three highly oxidized hybrid flavonoids neosophoflavonoids A–C(1,2a,and 2b)were isolated from the roots of Sophora *** A possesses a unique highly oxidized heptacyclic6/6/6/6/6/6/5 *** B and C are isomers and share the same highly oxidized hexacyclic 6/6/6/6/6/6 *** planar structures were elucidated from 1D/2D nuclear magnetic resonance(NMR),ultraviolet spectroscopy(UV),infrared spectroscopy(IR),and high resolution electrospray ionization mass spectroscopy(HRESIMS)*** absolute configurations were determined by thorough GIAO13C NMR(DP4+)calculation protocol and electronic circular dichroism(ECD)calculation *** plausible biosynthetic routes for the compounds were also *** compounds exhibited significant protein tyrosine phosphatase-1B(PTP1B)inhibitory activity with half maximal inhibitory concentration(IC_(5)0)values 3.94±0.01,0.38±0.13,and 0.70±0.01μmol/L,*** addition,compared to a positive control fenofibrate(Feno)at 20μmol/L,compounds 2a and 2b exhibited stronger inhibitory effects on lipid accumulation in the oleic acid(OA)-induced cell model at 5 and 10μmol/L.

关键词： Sophora flavescens Highly oxidized hybrid flavonoids Neosophoflavonoids A-C PTP1B inhibition Lipid accumulation inhibition

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RNA modifications in cellular metabolism:implications for metabolism-targeted therapy and immunotherapy

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Signal Transduction and Targeted Therapy 2024年第4期9卷 1565-1594页

作者： Wei-Wei Liu Si-Qing Zheng Tian Li Yun-Fei Fei Chen Wang shuang Zhang Fei Wang Guan-Min jiang Hao Wang Department of Laboratory Medicine The First Affiliated Hospital of USTCDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefeiChina School of Clinical Medicine Shandong UniversityJinanChina Core Unit of National Clinical Research Center for Laboratory Medicine HefeiChina Neurosurgical Department The First Affiliated Hospital of USTCDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefeiChina Department of Clinical Laboratory The Fifth Affiliated HospitalSun Yat-sen UniversityZhuhaiChina

Cellular metabolism is an intricate network satisfying bioenergetic and biosynthesis requirements of *** studies have been constantly making inroads in our understanding of pathophysiology,and inspiring development of *** a crucial component of epigenetics at post-transcription level,RNA modification significantly determines RNA fates,further affecting various biological processes and cellular *** be noted,immunometabolism defines the metabolic alterations occur on immune cells in different stages and immunological *** this review,we characterize the distribution features,modifying mechanisms and biological functions of 8 RNA modifications,including N6-methyladenosine(m6A),N6,2'-O-dimethyladenosine(m6Am),N1-methyladenosine(m1A),5-methylcytosine(m5C),N4-acetylcytosine(ac4C),N7-methylguanosine(m7G),Pseudouridine(V),adenosine-to-inosine(A-to-l)editing,which are relatively the most studied *** regulatory roles of these RNA modification on metabolism in diverse health and disease contexts are comprehensively described,categorized as glucose,lipid,amino acid,and mitochondrial *** we highlight the regulation of RNA modifications on immunometabolism,further influencing immune *** all,we provide a thorough discussion about clinical implications of RNA modification in metabolism-targeted therapy and immunotherapy,progression of RNA modification-targeted agents,and its potential in RNAtargeted ***,we give legitimate perspectives for future researches in this field from methodological requirements,mechanistic insights,to therapeutic applications.

关键词： metabolism targeted alterations

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Extensive identification of landslide boundaries using remote sensing images and deep learning method

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China Geology 2024年第2期7卷 277-290页

作者： Chang-dong Li Peng-fei Feng Xi-hui jiang shuang Zhang Jie Meng Bing-chen Li Faculty of Engineering China University of GeoscienceWuhan 430074China Badong National Observation and Research Station of Geohazards China University of GeosciencesWuhan 430074China School of Mechanical Engineering and Electronic Information China University of GeosciencesWuhan 430074China College of Geology Engineering and Geomatics Chang’an UniversityXi’an 710054China

The frequent occurrence of extreme weather events has rendered numerous landslides to a global natural disaster *** is crucial to rapidly and accurately determine the boundaries of landslides for geohazards evaluation and emergency ***,the Skip Connection DeepLab neural network(SCDnn),a deep learning model based on 770 optical remote sensing images of landslide,is proposed to improve the accuracy of landslide boundary *** SCDnn model is optimized for the over-segmentation issue which occurs in conventional deep learning models when there is a significant degree of similarity between topographical geomorphic *** exhibits notable improvements in landslide feature extraction and semantic segmentation by combining an enhanced Atrous Spatial Pyramid Convolutional Block(ASPC)with a coding structure that reduces model *** experimental results demonstrate that SCDnn can identify landslide boundaries in 119 images with MIoU values between 0.8and 0.9;while 52 images with MIoU values exceeding 0.9,which exceeds the identification accuracy of existing *** work can offer a novel technique for the automatic extensive identification of landslide boundaries in remote sensing images in addition to establishing the groundwork for future inve stigations and applications in related domains.

关键词： Geohazard Landslide boundary detection Remote sensing image Deep learning model Steep slope Large annual rainfall Human settlements Infrastructure Agricultural land Eastern Tibetan Plateau Geological hazards survey engineering

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一种基于Petri网的虚拟维修过程建模方法

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系统仿真学报 2007年第11期19卷 2488-2491页

作者：蒋双双刘鹏远张锡恩军械工程学院导弹工程系石家庄050003

在虚拟维修领域,一般采用Petri网进行维修过程建模,存在建模方法复杂、理解困难,无法描述维修工作中复杂的行为关系等问题。因此根据维修资源属性和维修过程的特点,提出了一种实用的建模方法,首先将资源分为可变资源与不可变资源,提出... 详细信息

在虚拟维修领域,一般采用Petri网进行维修过程建模,存在建模方法复杂、理解困难,无法描述维修工作中复杂的行为关系等问题。因此根据维修资源属性和维修过程的特点,提出了一种实用的建模方法,首先将资源分为可变资源与不可变资源,提出了元模型融合的定义,给出了资源共享元模型和操作过程元模型,同时根据过程模型的拓扑特征,提出了广义状态机的概念,在分析模型结构的基础上,提出了基于广义状态机的子网合并。结合实际维修给出了模型实例,并验证了模型的正确性。

关键词：虚拟维修过程建模元模型广义状态机Petri网

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