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The identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa

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Asian Journal of Andrology 2024年第1期26卷 107-111页

作者： Liu Liu jing Yang Wen-jing Zhang yi-Ling Zhou Gui-Jun Zhao Ya Huang Shu-Yan Tang Obstetrics and Gynecology Hospital Fudan UniversityShanghai 200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai 200011China State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development Department of Computational BiologySchool of Life SciencesFudan UniversityShanghai 200436China Shanghai Towako Hospital Shanghai 200131China Shanghai Institute of Medical Genetics Shanghai Children's HospitalShanghai Jiao Tong UniversityShanghai 200040China

Teratozoospermia with cephalic defects is one of the most severe types of sperm defects known to *** several monogenic factors are linked to cephalic abnormalities,such as globozoospermia and macrozoospermia,the genetic cause of vacuolated spermatozoa remains inadequately ***,we analyzed whole-exome sequencing(WES)data for an individual from a consanguineous family with severely vacuolated *** analysis revealed a novel homozygous c.520A>G(***174Ala)variant in the archaelysin family metallopeptidase 2(AMZ2),a gene that encodes a zinc metalloprotease previously shown to be highly expressed in the testes and *** algorithms predicted this variant to be a damaging *** with an autosomal recessive mode of inheritance,this variant was inherited from heterozygous parental *** investigate the potential pathogenicity of the identified variant,we compared the AMZ2 expression in sperm cells from the patient with the AMZ2 variant and from a healthy *** analysis revealed that the homozygous missense variant in AMZ2 abolished AMZ2 expression in the *** findings reveal a candidate causative gene for vacuolated spermatozoa.

关键词： AMZ2 male infertility sperm quality teratozoospermia

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Highly dispersed MgInCe-mixed metal oxides catalyzed direct carbonylation of glycerol and CO2 into glycerol carbonate

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CHINESE JOURNAL OF CHEMICAL ENGINEERING 2024年第8期72卷 153-163页

作者： Chen, Xufang Shu, Xin Zhu, Yanru Zhang, Jian Chai, Zhigang song, Hongyan An, Zhe He, jing Beijing Univ Chem Technol State Key Lab Chem Resource Engn Beijing 100029 Peoples R China Quzhou Inst Innovat Resource Chem Engn Quzhou 324000 Peoples R China

Glycerol carbonate, an important glycerol value-added product, has been widely used as an active intermediate and inert solvent in the synthesis of cosmetics, detergents, chemical intermediates, polymers, and so on. The direct carbonylation from glycerol with CO2 is considered a promising route, but still tough work due to the thermodynamic stability and the kinetic inertness of CO2. In this work, highly-selective direct carbonylation of glycerol and CO2 into glycerol carbonate has been achieved over highly dispersed MgInCe-mixed metal oxides (MgInCe-MMO), which were prepared through the topological transformation derived from the MgInCe-layered double hydroxides (MgInCe-LDHs). By precisely modulating the surface basic-acidic properties and the oxygen vacancies, an efficient carbonylation of glycerol with CO2 has been achieved with a selectivity of up to >99% to glycerol carbonate. Deep investigation into the synergistic catalysis of base-acid sites and oxygen vacancies has been clarified. (c) 2024 The Chemical Industry and Engineering Society of China, and Chemical Industry Press Co., Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

关键词： Catalytic reaction engineering Glycerol carbonate Direct carbonylation from glycerol Carbon dioxide Mixed metal oxides Synergistic catalysis LAYERED DOUBLE HYDROXIDES OXIDATIVE CARBONYLATION SOLID CATALYSTS HYDROGENATION METHANOL 1-PROPANOL CONVERSION DIOXIDE SURFACE TRANSFORMATION

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Circulating biomarker-and magnetic resonance-based nomogram predicting long-term outcomes in dilated cardiomyopathy

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Chinese Medical Journal 2024年第1期137卷 73-81页

作者： Yupeng Liu Wenyao Wang jingjing song Jiancheng Wang yi Fu yida Tang Department of Cardiology Guangdong Provincial People’s Hospital(Guangdong Academy of Medical Sciences)Southern Medical UniversityGuangzhou 510080China Guangdong Cardiovascular Institute Guangdong Provincial People’s HospitalGuangdong Academy of Medical SciencesGuangzhou 510080China Department of Cardiology Institute of Vascular MedicinePeking University Third HospitalBeijing 100191China Department of Cardiology State Key Laboratory of Cardiovascular DiseaseFuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China Beijing Key Laboratory of Molecular Pharmaceutics and New Drug Delivery Systems State Key Laboratory of Natural and Biomimetic DrugsSchool of Pharmaceutical SciencesPeking UniversityBeijing 100083China Department of Physiology and Pathophysiology School of Basic Medical SciencesPeking University Health Science CenterBeijing 100083China Key Laboratory of Molecular Cardiovascular Science Ministry of EducationBeijing 100191China

Background:Dilated cardiomyopathy(DCM)has a high mortality rate and is the most common indication for heart *** study sought to develop a multiparametric nomogram to assess individualized all-cause mortality or heart transplantation(ACM/HTx)risk in DCM ***:The present study is a retrospective cohort *** demographic,clinical,blood test,and cardiac magnetic resonance imaging(CMRI)data of DCM patients in the tertiary center(Fuwai Hospital)were *** primary endpoint was ACM/*** least absolute shrinkage and selection operator(LASSO)Cox regression model was applied for variable *** Cox regression was used to develop a *** concordance index(C-index),area under the receiver operating characteristic curve(AUC),calibration curve,and decision curve analysis(DCA)were used to evaluate the performance of the ***:A total of 218 patients were included in the present *** were randomly divided into a training cohort and a validation *** nomogram was established based on eight variables,including mid-wall late gadolinium enhancement,systolic blood pressure,diastolic blood pressure,left ventricular ejection fraction,left ventricular end-diastolic diameter,left ventricular end-diastolic volume index,free triiodothyronine,and N-terminal pro-B type natriuretic *** AUCs regarding 1-year,3-year,and 5-year ACM/HTx events were 0.859,0.831,and 0.840 in the training cohort and 0.770,0.789,and 0.819 in the validation cohort,*** calibration curve and DCA showed good accuracy and clinical utility of the ***:We established and validated a circulating biomarker-and CMRI-based nomogram that could provide a personalized prediction of ACM/HTx for DCM patients,which might help risk stratification and decision-making in clinical practice.

关键词： Cardiomyopathy,dilated Heart transplantation Mortality Nomograms Least absolute shrinkage and selection operator Decision curve analysis

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Heterostructured Pt-Ni_(3)Mo_(3)N formed via ammonia-containing polyoxometalates for highly efficient electrocatalytic hydrogen evolution in acid medium

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Journal of Energy Chemistry 2024年第5期92卷 698-704页

作者： Bianqing Ren Xue Gong jing Cao Dezheng Zhang Zizhun Wang Ping song Ce Han Weilin Xu State Key Laboratory of Electroanalytical Chemistry Jilin Province Key Laboratory of Low Carbon Chemical PowerChangchun Institute of Applied ChemistryChinese Academy of SciencesChangchun 130022JilinChina School of Applied Chemistry and Engineering University of Science and Technology of ChinaHefei 230026AnhuiChina Key Laboratory of Automobile Materials MOE School of Materials Science&EngineeringJilin Provincial International Cooperation Key Laboratory of High-Efficiency Clean Energy MaterialsElectron Microscopy Centerand International Center of Future ScienceJilin UniversityChangchun 130012JilinChina

Constructing heterostructured nanohybrid is considered as a prominent route to fabricate alternative electrocatalysts to commercial Pt/C for hydrogen evolution reaction(HER).In this work,(NH_(4))_(4)[NiH_(6)Mo_(6)O_(4)]·5H_(2)O polyoxometalates(NiMo_(6))are adopted as the cluster precursors for simple fabrication of heterostructured Pt-Ni_(3)Mo_(3)N nanohybrids supported by carbon black(Pt-Ni_(3)Mo_(3)N/C)without using additional N *** improved porosity and enhanced electronic interaction of Pt-Ni_(3)Mo_(3)N/C should be attributed to the integration of Pt with NiMo_(6),which favors the mass transport,promotes the formation of exposed catalytic sites,and benefits the regulation of intrinsic ***,the as-obtained Pt-Ni_(3)Mo_(3)N/C exhibits impressive and durable HER performance as indicated by the low overpotential of 13.7 mV at the current density of 10 mA cm^(-2) and the stable overpotential during continuous working at 100 mA cm^(-2) for 100 *** work provides significant insights for the synthesis of new highly active heterostructured electrocatalysts for renewable energy devices.

关键词： Polyoxometalates Cluster precursors Heterostructured nanohybrids Hydrogen evolution reaction Electrocatalysis

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New insights into the effect of hard carbons microstructure on the diffusion of sodium ions into closed pores

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Chinese Chemical Letters 2024年第6期35卷 155-160页

作者： Mingxin song Lijing Xie Fangyuan Su Zonglin yi Quangui Guo Cheng-Meng Chen CAS Key Laboratory of Carbon Materials Institute of Coal ChemistryChinese Academy of SciencesTaiyuan 030001China University of Chinese Academy of Sciences Beijing 100049China Center of Materials Science and Optoelectronics Engineering University of Chinese Academy of SciencesBeijing 100049China

Closed pores formed in hard carbons play an essential role in sodium storage at plateau ***,the effect of different structural features on the diffusion of sodium ions into closed pores remains ***,a precursor reconstruction strategy is conducted to regulate carbon microstructures including interlayer spacing,defect concentration,and closed pore volume by changing the ratio of aromatic and polysaccharide *** structure parts tend to develop disordered carbons with fewer defects,larger interlayer spacing,and smaller closed pore volume,while polysaccharide components prefer to form disordered carbons with more defects,smaller interlayer spacing,and larger closed pore *** the correlation analysis of microstructure features and the sodium storage capacity below 0.1 *** finds that the intercalation capacity is proportional to the ratio of pseudo-graphitic domains,whereas the pore filling capacity appeared at lower potential gradually decreases with the increasing defect concentration due to homo-ionic repulsion effect,without linear correlation with shortrange microcrystalline and closed pore *** optimized sample with suitable interlayer spacing and defect concentration exhibits a high plateau capacity of 241.7 m Ah/*** work provides insights into the exploitation of closed pore sodium storage performance.

关键词： Precursor reconstruction Hard carbons Structural features Closed pore filling Sodium-ion batteries

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Beamline design for multipurpose muon beams at CSNS EMuS

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Nuclear Science and Techniques 2024年第5期35卷 1-12页

作者： Yang Hong ying-Peng song Lu-Ping Zhou jing-Yu Tang Zhi-Hao Zhou Nikolaos Vassilopoulos Institute of High Energy Physics Chinese Academy of Sciences(CAS)Beijing 100049China Spallation Neutron Source Science Center Dongguan 523803China University of Chinese Academy of Sciences Beijing 100049China Radiotherapy Physics and Technology Center Cancer CenterWest China HospitalSichuan UniversityChengdu 610041China Xi’an Jiaotong University Health Science Center Xi’an 710049China Department of Radiation Oncology First Affiliated Hospital of Xi’an Jiaotong UniversityXi’an 710049China School of Nuclear Science and Technology University of Science and Technology of ChinaHefei 230027China

A new muon beam facility,called the Experimental Muon Source(EMuS),was proposed for construction at the China Spallation Neutron Source(CSNS).The design of the complex muon beamlines for the EMuS baseline scheme,which is based on superconducting solenoids,superferric dipoles and room-temperature magnets,is presented *** muon beams,including surface muons,decay muons and low energy muons,have been developed for multipurpose *** optics design and simulation results of the trunk beamline and branch beamlines are *** a proton beam power of 25 kW at a standalone target station that consists of a conical graphite target and high-field superconducting solenoids,the muon beam intensity in the trunk beamline varies from 10^(7)/s for surface muons to 10^(10)/s for high-momentum decay *** at the endstations,these values vary from 10^(5)/s for surface muons to 10^(8)/s for decay muons.

关键词： Surface muons Decay muons Muon beamline Superconducting solenoids Multi-channel electrostatic separator

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Elaborating strengthen mechanism of Pt-Ir solid solution superalloy at finite temperature

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Rare Metals 2024年第3期43卷 1243-1256页

作者： Wei Yu Xiao-Yu Chong Yun-Xuan Zhou Meng-Di Gan ying-Xue Liang Yan Wei Ai-Min Zhang Chang-yi Hu Xing-Yu Gao Li Chen Hai-Feng song jing Feng Faculty of Materials Science and Engineering Kunming University of Science and TechnologyKunming650093China Yunnan Precious Metals Laboratory Co.LTD Kunming650106China Laboratory of Computational Physics Institute of Applied Physics and Computational MathematicsBeijing100088China

Pt-Ir alloy is potential superalloys used above 1300℃because of their high strength and creep ***,the ductility of Pt-Ir alloy has rapidly deteriorated with the increase of Ir,resulting in poor *** work quantitatively evaluated the solid solution strengthening(SSS)and grain refinement strengthening(GRS)of Pt-Ir alloy using first-principles calculations combined with experimental ***,the stretching force constants in the second nearest neighbor region(SFC^(2nd))of pure Ir(193.7 eV·nm^(-2))are 3.40 times that of pure Pt(57.0 eV·nm^(-2)),i.e.,the interatomic interaction is greatly enhanced with the increase of Ir content,which leads to the decrease of ductility,and modulus misfit plays a dominant role in ***,the physical mechanisms responsible for the hardness(H_(V))of Pt-Ir alloy,using the power-law-scaled function of electron work function coupled SSS and GRS,are attributed to the electron redistribution caused by different Ir ***,a thorough assessment of the thermodynamic characteristics of Pt-Ir binary alloy was conducted,culminating in development of a mapping model that effectively relates enmposition,temperature and *** results revealed that the compressive strength incrcases with the Ir content,and the highest strength was observed in Pt_(0.25)Ir_(0.75).This study provides valuable insights into the Pt-Ir alloy system.

关键词： Elastic properties Phonon Solid solution strengthen Force constants CALPHAD

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Liquid-metal microgrid stretchable electronics based on bionic leaf veins with ultra-stretchability and high conductivity

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Rare Metals 2024年第6期43卷 2747-2757页

作者： Xi-Di Sun Jun-Yang An yi-Qi Sun Xin Guo jing Wu Jiang-Bo Hua Meng-Rui Su yi Shi Li-Jia Pan Collaborative Innovation Center of Advanced Microstructures School of Electronic Science and EngineeringNanjing UniversityNanjing 210093China

Stretchable electronics that monitor joint activity and treat diseases based on liquid metal could be used in the development of healthcare *** devices can be seamlessly integrated with human ***,most high-precision microstructures and complex patterns are difficult to fabricate due to the limitations of conventional fabrication solutions,resulting in suboptimal performance under practical ***,a liquid-metal stretchable system utilizing natural leaf veins was reported as microstructures,which was based on a biomimetic concept and utilized an all-solution process for the preparation of complex *** systems are ultra-high tensile(800%tensile strain),environmentally stable(20 days)and mechanically durable(300-cycle).The system can accurately recognize the wearer's finger bending level as well as simple gesture *** the same time,the system acts as a wearable heater,which can realize the fast heating behavior of heating up to 50℃in 3 min under the human body-safe voltage(1.5 V).The tensile stability is demonstrated by the heterogeneous integration of lasers(405 nm)with the system interconnects for a stretchable and wearable light source.

关键词： Stretchable electronics Liquid metal Stretchable conductor Vein Bionicist electronics

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GametesOmics:A Comprehensive Multi-omics Database for Exploring the Gametogenesis in Humans and Mice

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Genomics, Proteomics & Bioinformatics 2024年第1期22卷 121-130页

作者： Jianting An jing Wang Siming Kong Shi song Wei Chen Peng Yuan Qilong He yidong Chen Ye Li yi Yang Wei Wang Rong Li Liying Yan Zhiqiang Yan Jie Qiao State Key Laboratory of Female Fertility Promotion Center for Reproductive MedicineDepartment of Obstetrics and GynecologyPeking University Third HospitalBeijing 100191China National Clinical Research Center for Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Key Laboratory of Assisted Reproduction Ministry of EducationPeking UniversityBeijing 100191China Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology Beijing 100191China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100871China Beijing Advanced Innovation Center for Genomics Beijing 100191China

Gametogenesis plays an important role in the reproduction and evolution of *** transcriptomic and epigenetic alterations in this process can influence the reproductive capacity,fertilization,and embryonic *** rapidly increasing single-cell studies have provided valuable multi-omics ***,data from different layers and sequencing platforms have not been uniformed and integrated,which greatly limits their use for exploring the molecular mechanisms that underlie oogenesis and ***,we develop GametesOmics,a comprehensive database that integrates the data of gene expression,DNA methylation,and chromatin accessibility during oogenesis and spermatogenesis in humans and *** provides a user-friendly website and various tools,including Search and Advanced Search for querying the expression and epigenetic modification(s)of each gene;Tools with Differentially expressed gene(DEG)analysis for identifying DEGs,Correlation analysis for demonstrating the genetic and epigenetic changes,Visualization for displaying single-cell clusters and screening marker genes as well as master transcription factors(TFs),and MethylView for studying the genomic distribution of epigenetic *** also provides Genome Browser and Ortholog for tracking and comparing gene expression,DNA methylation,and chromatin accessibility between humans and *** offers a comprehensive resource for biologists and clinicians to decipher the cell fate transition in germ cell development,and can be accessed at http://***/.

关键词： Gametogenesis Oogenesis Spermatogenesis Transcriptomics Epigenomics

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Carbon cathode with heteroatom doping and ultrahigh surface area enabling enhanced capacitive behavior for potassium-ion hybrid capacitors

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Rare Metals 2024年第5期43卷 2136-2149页

作者： Yan Xiong Ya-Fei Zhang Chun-Liu Zhu Lei Yang Huan-Yu Liang jing Shi jing-Wei Chen Wei-QianTian Shuai Liu Zhi Li jing-yi Wu Huan-Lei Wang School of Materials Science and Engineering Ocean University of ChinaQingdao 266100China Department of Chemical and Materials Engineering University of AlbertaEdmontonAB T6G 2V4Canada

Potassium-ion hybrid capacitors(PIHCs)are widely regarded as highly promising energy storage devices,due to their exceptional energy density,impressive power density,and abundant potassium ***,restricted by the inherent capacitive storage mechanism,the carbon cathodes possess a much lower specific capacity than battery-type ***,designing high-performance carbon cathodes is extremely urgent for the development of ***,N,O codoped porous carbon(NOPC)was fabricated through the NaCl hard template method and combined KOH/melamine chemical activation technique,displaying the characteristics of abundant N/O content(4.7 at%/16.9 at%),ultrahigh specific surface area(3092 m^(2)g^(-1))and hierarchical pore *** designed NOPC cathode delivers a high specific capacity(164.4 mAh.g^(-1)at 0.05 A.g^(-1))and superior cyclability(95.1%retention ratio at 2 A·g^(-1)over 2500 cycles).Notably,the adjustable ratio of micropores to mesopores facilitates the achievement of the optimal bal-ance between capacity and rate ***,the pseudocapacitance can be further augmented through the incorporation of N/O functional *** expected,the graphite//NOPC based PIHC possesses a high energy density of 113 Wh·kg-at 747 W·kg^(-1)and excellent capacity retention of 84.4% fter 400 cycles at 1.0 A·g^(-1).This work introduces a novel strategy for designing carbon cathodes that enhances the electrochemical performance of PIHCs.

关键词： Template method N/O co-doping High specific surface area Carbon cathode Potassium-ion capacitors

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