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Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism

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Asian Journal of Andrology 2021年第3期23卷 288-293页

作者： jian Zhang Shu-Yan Tang Xiao-Bin Zhu Peng Li jian-qi lu jiang-Shan Cong Ling-Bo Wang Feng Zhang Zheng Li Obstetrics and Gynecology Hospital NHC Key Laboratory of Reproduction Regulation(Shanghai Institute of Planned Parenthood Research)School of Life SciencesFudan UniversityShanghai 200011China Department of Andrology Center for Men's HealthUrologic Medical CenterShanghai General HospitalShanghai Jiao Tong UniversityShanghai 200080China Department of Research Institute ReprcxJuction Medical CenterThe First Hospital of Lanzhou UniversityLanzhou 730000China

Dozens of genes are associated with idiopathic hypogonadotropic hypogonadism(IHH)and an oligogenic etiology has been ***,the associated genes may account for only approximately 50%*** addition,a genomic systematic pedigree analysis is still ***,we conducted whole exome sequencing(WES)on 18 unrelated men affected by IHH and their corresponding ***,one reported and 10 novel variants in eight known IHH causative genes(AXL,CCDC141,CHD7,DMXL2,FGFR1,PNPLA6,POLR3A,and PR0KR2),nine variants in nine recently reported candidate genes(DCAF17,DCC,EGF,IGSF10,NOTCH1,PDE3A,RELN,SLIT2,and TRAPPC9),and four variants in four novel candidate genes for IHH(CCDC88C,CDON,GADL1,and SPRED3)were identified in 77.8%(14/18)of IHH *** them,eight(8/18,44.4%)cases carried more than one variant in IHH-related genes,supporting the oligogenic ***,we found that those variants tended to be maternally inherited(maternal with n=17 vs paternal with n=7;P=0.028).Our further retrospective investigation of published reports replicated the maternal bias(maternal with n=46 i^s paternal with n=28;P=0.024).Our study extended a variant spectrum for IHH and provided the first evidence that women are probably more tolerant to variants of IHH-related genes than men.

关键词： idiopathic hypogonadotropic hypogonadism maternal inheritance oligogenic inheritance whole exome sequencing

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Research progress of traditional Chinese medicine rehabilitation of chronic heart failure

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Journal of Hainan Medical University 2020年第21期26卷 65-70页

作者： Wen-Peng Chen jian-qi lu Long-Yan Liu Yan-Ze Xie Hao Lin Guangxi University of Chinese Medicine GuangxiNanning530001China The First Affiliated Hospital of Guangxi University of Chinese Medicine NanningGuangxi530023China

In recent years,the rehabilitation of heart disease in China has developed *** types of cardiac rehabilitation prescriptions and numerous consensus on cardiac disease rehabilitation have been put forward,which further promote and standardize the development of cardiac rehabilitation in our *** Chinese medicine has a long history and is safe and effective in rehabilitation *** with the research of modern cardiac rehabilitation medicine will be the inevitable choice for the development of cardiac rehabilitation medicine in China in the *** article summarizes the progress of the application of modern Chinese medicine in the rehabilitation treatment of chronic heart failure,in order to provide reference for the clinical research and application of traditional Chinese medicine in the rehabilitation of chronic heart failure and to give full play to the advantages of modern traditional Chinese medicine rehabilitation treatment.

关键词： Traditional Chinese medicine Rehabilitation Chronic heart failure Research progress

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Distribution and mapping of temperate savanna in the sandy lands of eastern China

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Science China Earth Sciences 2025年第1期68卷 128-141页

作者： Xiaoya LI Feng WANG Tao DUAN Kaijie YANG Bin YANG Chunmei WANG Xin TIAN qi lu Institute of Ecological Conservation and Restoration Institute of Desertification Studies Chinese Academy of Forestry Institute of Desertification Institute of Desertification Studies Chinese Academy of Forestry Institute of Great Green Wall Satellite Application Centre for Ecology and Environment MEE Institute of Microelectronics Chinese Academy of Sciences Aerospace Information Research Institute Chinese Academy of Sciences Institute of Forest Resource Information Techniques Chinese Academy of Forestry

Savannas are distributed globally across various *** perform a significant socioeconomic role in regulating net primary productivity and the terrestrial carbon *** to the high spatial heterogeneity induced by the mixed distribution of trees and grasses,current global land-cover classification maps often classify savannas as forests or grasslands Temperate savannas in China cover a vast area,yet their spatial patterns and extent remain poorly *** study developed a novel remote sensing temperate savannas mapping method by integrating very high-resolution （VHR） unmanned aerial vehicle （UAV） and GF-6 satellite imagery based on the vegetation structure characteristics of temperate savannas using the FAO definition of *** and validation datasets were collected from VHR UAV imagery covering the main temperate savannah types with a ground area of 1818 *** fractional woody vegetation cover （FWVC） and fractional herbaceous vegetation cover （FHVC） in temperate savannas were estimated by integrating Classification and Regression Tree and Random Forest *** current distribution of temperate savannas in the Horqin and Otindag Sandy Lands of Eastern China was mapped to a unit area of 0.5 *** root-mean-square error （RMSE） values for the FWVC and FHVC models were 10.69% and 11.67%,and the R2values were 0.66 and 0.63,*** assessment indicated that the new temperate savanna map had high identification accuracy,with a Kappa coefficient of 0.70,overall accuracy of 0.88,and average accuracy of *** savannas in the sandy lands of eastern China were primarily distributed in the northern Horqin Sandy Land the central and eastern regions of the Otindag Sandy Land,and the transition zone from the southern slopes of the Greater Khingan Mountains to the plains,covering a total area of 3.27×10～6 *** main savannah types were elm,oak/maple,and shrub *** savannas were widely distributed in the Otindag Sandy

关键词： Temperate savanna UAV imagery GF-6 Fractional woody vegetation cover Fractional herbaceous vegetation cover Machine learning

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A summary of research on benefiting qi and activating blood to regulate mitophagy to prevent and treat ischemic heart disease

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Journal of Hainan Medical University 2020年第10期26卷 65-68页

作者： Ye-Hui He jian-qi lu Guangxi University of Chinese Medicine Nanning 530200China The First Affiliated Hospital of Guangxi University of Chinese Medicine Nanning 530023China

Ischemic heart disease has the characteristics of high morbidity and high mortality, which seriously endangers people's health. Mitophagy can selectively remove damaged organelles, and has a role in maintaining the homeostasis of myocardial cells and protecting ischemic myocardium. Significance. More and more studies have found that traditional Chinese medicine can improve ischemic damage of cardiomyocytes by regulating mitochondrial function and autophagy. Using mitochondria as the target of traditional Chinese medicine in cardiomyocytes to explore the treatment of ischemic Effective measures for heart disease have become a hotspot for related Chinese medicine workers. Based on the above background, this article outlines the main regulatory pathways of mitochondrial autophagy, and reviews related researches on traditional Chinese medicine of benefiting qi and activating blood and mitophagy in this field.

关键词： Traditional Chinese medicine Benefiting qi and activating blood Mitophagy Ischemic heart disease

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CO2-mediated bicarbonate conversion to concentrated formate in a CEM-based electrolyzer

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Journal of Energy Chemistry 2025年第1期100卷 605-611页

作者： Haocheng Xiong Donghuan Wu Haonan Li Andrew Li qikun Hu Siyao Song Bingjun Xu qi lu State Key Laboratory of Chemical Engineering Department of Chemical Engineering Tsinghua University College of Chemistry and Molecular Engineering Peking University Ordos Laboratory

Renewable energy-driven bicarbonate conversion to valuable chemicals presents an attractive strategy for mitigating CO2emissions,as bicarbonate can be efficiently generated from the capture of atmospheric CO2using alkaline solutions with reactive *** this work,we present a CO2-mediated bicarbonate conversion to pure formate using a cation exchange membrane-based electrolyzer with a 25 cm2electrode *** electrolysis achieved selectivities exceeding 75%for formate at a total current of 2.5 A,achieving formate concentrations up to 1.2 M and yields as high as 95%over extended *** techno-economic assessment confirmed the economic viability of the process,highlighting the potential for bicarbonate electrolysis as a sustainable method for producing valuable chemicals.

关键词： Electrocatalysis Techno-economic assessments Electrochemistry Flow electrolyzer

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Spatiotemporal characteristics and influencing factors of vegetation water use efficiency on the Tibetan Plateau in 2001–2020

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Journal of Geographical Sciences 2025年第1期35卷 39-64页

作者： HE Chenyang WANG Yanjiao YAN Feng lu qi School of Ecological and Environmental Science East China Normal University Institute of Ecological Conservation and Restoration Chinese Academy of Forestry National Climate Center China Meteorological Administration

Water use efficiency （WUE）,as a pivotal indicator of the coupling degree within the carbon–water cycle of ecosystems,holds considerable importance in assessment of the carbon–water balance within terrestrial ***,in the context of global warming,WUE evolution and its primary drivers on the Tibetan Plateau remain *** study employed the ensemble empirical mode decomposition method and the random forest algorithm to decipher the nonlinear trends and drivers of WUE on the Tibetan Plateau in 2001–*** indicated an annual mean WUE of 0.8088 gC/mm·m2across the plateau,with a spatial gradient reflecting decrease from the southeast toward the *** manifesting monotonous trends of increase or decrease in WUE accounted for 23.64%and 9.69%of the total,***,66.67%of the region exhibited trend reversals,i.e.,39.94%of the area of the Tibetan Plateau showed transition from a trend of increase to a trend of decrease,and 26.73%of the area demonstrated a shift from a trend of decrease to a trend of *** factors accounted for 70.79%of the variability in *** leaf area index and temperature served as the major driving forces of WUE variation.

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Cross-subcarrier precoder design for massive MIMO-OFDM downlink with symplectic optimization

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Science China(Information Sciences) 2025年

作者： Yu-Xuan ZHANG An-An lu Xiang-Gen XIA Xi-qi GAO National Mobile Communications Research Laboratory Southeast University Purple Mountain Laboratories Department of Electrical and Computer Engineering University of Delaware

We propose a cross-subcarrier precoder design(CSPD) for massive multiple-input multiple-output(MIMO) orthogonal frequency division multiplexing(OFDM) downlink. This work aims to significantly improve the channel estimation and signal detection performance by enhancing the smoothness of the frequency domain effective channel. This is accomplished by designing a few vectors known as the transform domain precoding vectors(TDPVs), which are then transformed into the frequency domain to generate the precoders for a set of subcarriers. To combat the effect of channel aging, the TDPVs are optimized under imperfect channel state information(CSI). The optimal precoder structure is derived by maximizing an upper bound of the ergodic weighted sum-rate(WSR) and utilizing the a posteriori beam-based statistical channel model(BSCM). To avoid the large-dimensional matrix inversion, we propose an algorithm with symplectic optimization. Simulation results indicate that the proposed cross-subcarrier precoder design significantly outperforms conventional methods.

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Perilipin-2 mediates ferroptosis in oligodendrocyte progenitor cells and myelin injury after ischemic stroke

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Neural Regeneration Research 2025年第7期20卷 2015-2028页

作者： jian Yang jiang Wu Xueshun Xie Pengfei Xia Jinxin lu Jiale Liu Lei Bai Xiang Li Zhengquan Yu Haiying Li Department of Neurosurgery&Brain and Nerve Research Laboratory The First Affiliated Hospital of Soochow UniversitySuzhouJiangsu ProvinceChina Institute of Stroke Research Soochow UniversitySuzhouJiangsu ProvinceChina

Differentiation of oligodendrocyte progenitor cells into mature myelin-forming oligodendrocytes contributes to *** of remyelination due to oligodendrocyte progenitor cell death can result in severe nerve *** is an iron-dependent form of regulated cell death caused by membrane rupture induced by lipid peroxidation,and plays an important role in the pathological process of ischemic ***,there are few studies on oligodendrocyte progenitor cell *** analyzed transcriptome sequencing data from GEO databases and identified a role of ferroptosis in oligodendrocyte progenitor cell death and myelin injury after cerebral *** analysis suggested that perilipin-2(PLIN2)was involved in oligodendrocyte progenitor cell ***2 is a lipid storage protein and a marker of hypoxia-sensitive lipid droplet *** further investigation,we established a mouse model of cerebral ischemia/*** found significant myelin damage after cerebral ischemia,as well as oligodendrocyte progenitor cell death and increased lipid peroxidation levels around the infarct *** ferroptosis inhibitor,ferrostatin-1,rescued oligodendrocyte progenitor cell death and subsequent myelin *** also found increased PLIN2 levels in the peri-infarct area that co-localized with oligodendrocyte progenitor ***2 knockdown rescued demyelination and improved neurological *** findings suggest that targeting PLIN2 to regulate oligodendrocyte progenitor cell ferroptosis may be a potential therapeutic strategy for rescuing myelin damage after cerebral ischemia.

关键词： bioinformatics bulk RNA sequencing ferroptosis ischemic stroke myelin injury oligodendrocyte progenitor cell perilipin-2 single-cell RNA sequencing

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Recent progress in the applications of presynaptic dopaminergic positron emission tomography imaging in parkinsonism

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Neural Regeneration Research 2025年第1期20卷 93-106页

作者： Yujie Yang Xinyi Li Jiaying lu Jingjie Ge Mingjia Chen Ruixin Yao Mei Tian jian Wang Fengtao Liu Chuantao Zuo Key Laboratory of Arrhythmias Ministry of EducationDepartment of Medical GeneticsShanghai East HospitalSchool of MedicineTongji UniversityShanghaiChina Department of Neurology National Research Center for Aging and MedicineNational Center for Neurological Disordersand State Key Laboratory of Medical NeurobiologyHuashan HospitalFudan UniversityShanghaiChina Department of Nuclear Medicine&PET Center National Center for Neurological Disordersand National Clinical Research Center for Aging and MedicineHuashan HospitalFudan UniversityShanghaiChina International Human Phenome Institutes(Shanghai) ShanghaiChina Human Phenome Institute Fudan UniversityShanghaiChina

Nowadays,presynaptic dopaminergic positron emission tomography,which assesses deficiencies in dopamine synthesis,storage,and transport,is widely utilized for early diagnosis and differential diagnosis of *** review provides a comprehensive summary of the latest developments in the application of presynaptic dopaminergic positron emission tomography imaging in disorders that manifest *** conducted a thorough literature search using reputable databases such as PubMed and Web of *** criteria involved identifying peer-reviewed articles published within the last 5 years,with emphasis on their relevance to clinical *** findings from these studies highlight that presynaptic dopaminergic positron emission tomography has demonstrated potential not only in diagnosing and differentiating various Parkinsonian conditions but also in assessing disease severity and predicting ***,when employed in conjunction with other imaging modalities and advanced analytical methods,presynaptic dopaminergic positron emission tomography has been validated as a reliable in vivo *** validation extends to screening and exploring potential neuropathological mechanisms associated with dopaminergic *** summary,the insights gained from interpreting these studies are crucial for enhancing the effectiveness of preclinical investigations and clinical trials,ultimately advancing toward the goals of neuroregeneration in parkinsonian disorders.

关键词： aromatic amino acid decarboxylase brain imaging dopamine transporter Parkinson’s disease parkinsonism positron emission tomography presynaptic dopaminergic function vesicle monoamine transporter type 2

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Unlocking the stable interface in aqueous zinc-ion battery with multifunctional xylose-based electrolyte additives

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Journal of Energy Chemistry 2025年第1期100卷 770-778页

作者： Xiaoqin Li jian Xiang lu qiu Xiaohan Chen Yinkun Zhao Yujue Wang Qu Yue Taotao Gao Wenlong Liu Dan Xiao Zhaoyu Jin Panpan Li Institute for Advanced Study Chengdu University School of Mechanical Engineering Chengdu University College of Food and Biological Engineering Chengdu University Institute of Fundamental and Frontier Sciences University of Electronic Science and Technology of China College of Materials Science and Engineering Sichuan University

The growth of dendrites and the side reactions occurring at the Zn anode pose significant challenges to the commercialization of aqueous Zn-ion batteries（AZIBs）. These challenges arise from the inherent conflict between mass transfer and electrochemical kinetics. In this study, we propose the use of a multifunctional electrolyte additive based on the xylose（Xylo） molecule to address these issues by modulating the solvation structure and electrode/electrolyte interface, thereby stabilizing the Zn anode. The introduction of the additive alters the solvation structure, creating steric hindrance that impedes charge transfer and then reduces electrochemical kinetics. Furthermore, in-situ analyses demonstrate that the reconstructed electrode/electrolyte interface facilitates stable and rapid Zn2+ion migration and suppresses corrosion and hydrogen evolution reactions. As a result, symmetric cells incorporating the Xylo additive exhibit significantly enhanced reversibility during the Zn plating/stripping process, with an impressively long lifespan of up to 1986 h, compared to cells using pure ZnSO4electrolyte. When combined with a polyaniline cathode, the full cells demonstrate improved capacity and long-term cyclic stability. This work offers an effective direction for improving the stability of Zn anode via electrolyte design, as well as highperformance AZIBs.

关键词： Solvation

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