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RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium

Journal of Genetics and Genomics 2024年第5期51卷 543-553页

作者： Ting Hu Lan Liu He Wang Mei Yang Bocheng Xu Hanbing xie Ziyuan Lin Xiaolei Jin ping Wang Yanyan Liu huaqin Sun Shanling Liu Department of Medical Genetics West China Second University HospitalSichuan UniversityChengduSichuan 610041China Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University) Ministry of EducationChengduSichuan 610041China Medical College Tibet UniversityLhasaTibet 850000China SCU-CUHK Joint Laboratory for Reproductive Medicine West China Second University HospitalSichuan UniversityChengduSichuan 610041China West China School of Medicine Sichuan UniversityChengduSichuan 610041China

Noncompaction of the ventricular myocardium(NVM),the third most diagnosed cardiomyopathy,is characterized by prominent trabeculae and intratrabecular ***,the genetic etiology of 40%–60%of NVM cases remains ***,we identify two infants with NVM,in a nonconsanguineous family,with a typical clinical presentation of persistent bradycardia since the prenatal period.A homozygous missense variant(R223L)of RCAN family member 3(RCAN3)is detected in both infants using whole-exome *** the zebrafish model,marked cardiac dysfunction is detected in rcan3 deficiency(MO-rcan3^(ATG)-injected)and rcan^(−/−) *** dysplasia of both endocardial and myocardial layers is also detected in rcan3-deficient ***3 R223L variant mRNAs can not rescue heart defects caused by rcan3 knockdown or knockout;however,hRCAN3 mRNAs rescue these ***-seq experiments show that several genes involved in cardiomyopathies are significantly regulated through multiple signaling pathways in the rcan3-knockdown zebrafish *** human cardiomyocytes,RCAN3 deficiency results in reduced proliferation and increased apoptosis,together with an abnormal mitochondrial ***,we suggest that RCAN3 is a susceptibility gene for cardiomyopathies,especially NVM and that the R223L mutation is a potential loss-of-function variant.

关键词： Cardiomyopathy NVM RCAN3 Mitochondrial structure Heartdefects

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Game-theoretic multi-agent motion planning in a mixed environment

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Control Theory and Technology 2024年第3期22卷 379-393页

作者： Xiaoxue Zhang Lihua xie School of Electrical and Electronic Engineering Nanyang Technological UniversitySingapore City 639798Singapore

The motion planning problem for multi-agent systems becomes particularly challenging when humans or human-controlled robots are present in a mixed *** address this challenge,this paper presents an interaction-aware motion planning approach based on game theory in a receding-horizon manner Leveraging the framework provided by dynamic potential games for handling the interactions among agents,this approach formulates the multi-agent motion planning problem as a differential potential game,highlighting the effectiveness of constrained potential games in facilitating interactive motion planning among ***,online learning techniques are incorporated to dynamically learn the unknown preferences and models of humans or human-controlled robots through the analysis of observed *** evaluate the effectiveness of the proposed approach,numerical simulations are conducted,demonstrating its capability to generate interactive trajectories for all agents,including humans and human-controlled agents,operating within the mixed *** simulation results illustrate the effectiveness of the proposed approach in handling the complexities of multi-agent motion planning in real-world scenarios.

关键词： Motion planning Differential potential game Multi-agent systems Constrained potential game

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Pulsatile gonadotropin-releasing hormone therapy induces spermatogenesis in pituitary stalk interruption syndrome:A case report and review of the literature

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World Journal of Clinical Cases 2024年第20期12卷 4348-4356页

作者： Jin-Long xie Hai-Ying Zhu Yang Dong ping-ping Sun Dan-Dan Qi Su-Xian Luan Yan Zhang hua-Gang Ma The Reproductive Medicine Centre Weifang People's HospitalWeifang 261000Shandong ProvinceChina Department of Radiology Weifang People's HospitalWeifang 261000Shandong ProvinceChina

BACKGROUND Pituitary stalk interruption syndrome(PSIS)is a rare anatomical defect of the pituitary gland falling under the spectrum of holoprosencephaly *** is characterized by a deficiency in anterior pituitary hormones,such as growth hormone,gonadotropins,and thyroid *** to the syndrome's rarity and nonspecific manifestations,there is a lack of standardized treatment ***,early diagnosis through imaging and on-time intervention are crucial for improving patients’*** SUMMARY A 30-year-old man presented with absent secondary sexual characteristics and *** evaluation revealed a deficiency in gonadotropins,while thyroid function was mostly within normal *** resonance imaging of the pituitary gland showed pituitary stalk agenesis,hypoplasia of the anterior pituitary,and ectopic posterior pituitary,leading to the diagnosis of ***,the patient underwent 6 mo of gonadotropin therapy without significant changes in hormone levels and secondary sexual *** gonadotropin-releasing hormone therapy was then administered,resulting in the detection of sperm in the semen analysis within 3 *** 6 mo,routine semen tests showed normal semen *** couple faced challenges in conceiving due to abstinence and underwent three cycles of artificial insemination,which was *** also attempted in vitro fertilization,but unfortunately,the woman experienced a miscarriage 10 wk after the embryo *** Early detection,accurate diagnosis,and timely treatment are crucial in improving the quality of life and fertility of PSIS patients.

关键词： Pituitary stalk interruption syndrome Hypogonadotropic hypogonadism Spermatogenesis Pulsatile gonadotropinreleasing hormone therapy Case report

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Development of a potent benzonitrile-based inhibitor of glutaminyl-peptide cyclotransferase-like protein(QPCTL)with antitumor efficacy

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Signal Transduction and Targeted Therapy 2024年第1期9卷 44-46页

作者： Lei Yu Pengcheng Zhao Yaoliang Sun Zening Zheng Wenhao Du Lishan Zhang Yaxu Li Longyan xie Shilin Xu ping Wang Tongji University Cancer Center Shanghai Tenth People’s HospitalSchool of MedicineTongji UniversityShanghaiChina Department of Medicinal Chemistry Shanghai Institute of Materia MedicaChinese Academy of SciencesShanghaiChina

Dear Editor,Immune checkpoint therapies manipulating the immune system to eliminate tumor cells have shown remarkable clinical efficacy in treating various ***47,an emerging efficient immune checkpoint,is crucial for cancer cells to evade macrophagemediated phagocytosis by interaction with signal-regulatory proteinα(SIRPα).Antibodies blocking the CD47/SIRPαinteraction have been effective to promote macrophage-mediated phagocytosis in various types of cancer in mice and ***47 is not only highly expressed in tumor cells,but also normal cells,such as red blood cells(RBCs).Thus,during clinical trials involving cancer patients,anti-CD47 antibodies may promote the macrophagesmediated phagocytosis of RBCs,ultimately inducing undesirable anemia side *** contrast,small molecule inhibitors interrupting CD47/SIRPαaxis have shown potential to overcome the anemia,possibly due to their lower immunogenicity and shorter half-life compared to antibodies.1 Hence,developing the novel strategies,especially those without the anemia side effect,to intervene in CD47/SIRPαinteraction will benefit cancer immunotherapy.

关键词： anemia overcome eliminate

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Transfer learning framework for multi-scale crack type classification with sparse microseismic networks

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International Journal of Mining Science and Technology 2024年第2期34卷 167-178页

作者： Arnold Yuxuan xie Bing QLi Department of Civil and Environmental Engineering Western UniversityLondon N6A 3K7Canada

Rock fracture mechanisms can be inferred from moment tensors(MT)inverted from microseismic ***,MT can only be inverted for events whose waveforms are acquired across a network of *** is limiting for underground mines where the microseismic stations often lack azimuthal ***,there is a need for a method to invert fracture mechanisms using waveforms acquired by a sparse microseismic ***,we present a novel,multi-scale framework to classify whether a rock crack contracts or dilates based on a single *** framework consists of a deep learning model that is initially trained on 2400000+manually labelled field-scale seismic and microseismic waveforms acquired across 692 *** learning is then applied to fine-tune the model on 300000+MT-labelled labscale acoustic emission waveforms from 39 individual experiments instrumented with different sensor layouts,loading,and rock types in *** optimal model achieves over 86%F-score on unseen waveforms at both the lab-and *** model outperforms existing empirical methods in classification of rock fracture mechanisms monitored by a sparse microseismic *** facilitates rapid assessment of,and early warning against,various rock engineering hazard such as induced earthquakes and rock bursts.

关键词： Multi-scale Fracture processes Microseismic Acoustic emission Source mechanism Deep learning

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Influence characteristics of water penetration on fibre-reinforced polymer/rigid polyurethane foam interface of the composite cross-arm considering natural ageing

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High Voltage 2024年第1期9卷 81-93页

作者： Jun xie Zhe Zhou Ziqian Liu Haonan Tian Sigang Zhang Qing xie Hebei Provincial Key Laboratory of Power Transmission Equipment Security Defense North China Electric Power UniversityBaodingChina State Grid Gansu Electric Power Company LanzhouChina

Fibre-reinforced polymer(FRP)/rigid polyurethane foam(RPUF)interface is susceptible to moisture intrusion in addition to natural ageing during *** study investigated the influence of moisture intrusion on the FRP/RPUF interface under natural ageing using experiments and molecular dynamics(MD)*** absorption,shear strength,and leakage current tests were used to clarify the changes in the interface *** degradation mechanism of moisture intrusion at the interface under natural ageing was revealed by MD simulation and *** results show that the natural ageing of interfacial materials will slightly reduce the quality of the interface but will reduce the water resistance of the material and promote the process of water intrusion into the *** addition,water mainly invades the interface through *** water penetration,the interfacial bonding strength and insulation performance significantly *** and hydrolysis of interfacial materials are the main reasons for decreased interfacial *** can cause irreversible damage to the interface,increasing interface defects and water *** vicious cycle of material hydrolysis is the ultimate cause of interfacial *** polar molecules produced by this process and the water absorbed by the interface caused the degradation of the interface insulation performance.

关键词： interface polyurethane interfacial

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Decoding the chromatin accessibility in Andrographis paniculata genome,a case study of genome-wide investigation of the cis-regulatory elements in medicinal plants

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Acta Pharmaceutica Sinica B 2024年第9期14卷 4179-4182页

作者： Mingkun huang Yufang Hu Ling Zhang hua Yang Chen Feng Chunhong Jiang Ning xie Difa Liu Shilin Chen Jihua Wang Wei Sun Jiangxi Provincial Key Laboratory of Ex Situ Plant Conservation and Utilization Lushan Botanical GardenChinese Academy of SciencesJiujiang 332900China Key Laboratory of Beijing for Identification and Safety Evaluation of Chinese Medicine China Academy of Chinese Medical SciencesInstitute of Chinese Materia Medic1Beijing 100070China State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs Institute of Chinese Materia Medic1China Academy of Chinese Medical SciencesBeijing 100700China Institute of Herbgenomics Chengdu University of Traditional Chinese MedicineChengdu 611137China Guangdong Provincial Key Laboratory of Crops Genetics and Improvement Crop Research InstituteGuangdong Academy of Agriculture SciencesGuangzhou 510640China State Key Laboratory of Innovative Natural Medicine and TCM Injections Jiangxi Qingfeng Pharmaceutical Co.Ltd.Ganzhou 341008China

To the Editor:Medicinal plants have the ability to synthesize a large number of pharmaceutical metabolites,the production and regulation of which are influenced by both intrinsic signals(e.g.,the spatial and temporal stage)and extrinsic environmental conditions(e.g.,temperature,light availability,and water availability)*** to the Encyclopedia of DNA Elements(ENCODE)project2,accessible chromatin regions(ACRs)served essential roles in maintaining the genome architecture and gene regulation in both mammals and ***,identifying ACRs within medicinal plant genomes remains a challenge,as genomic sequences have been determined for numerous species yet the characterization of such functional elements *** this study,we selected Andrographis paniculata(APA)3 as a model system to map ACRs genome-wide by the assay for transposase-accessible chromatin with sequencing(ATAC-seq)*** aimed to uncover the genomic features of ACRs as well as their association with the expression of genes involved in secondary metabolite biosynthesis(e.g.,andrographolide)within medicinal plants(Supporting Information Fig.S1).

关键词： Andrographis paniculata Chromatin accessibility Medicinal plant Epigenetics ENCODE cis-regulatory elements

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Imprints of ultralight axions on the gravitational wave and pulsar timing measurement

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Science China(Physics,Mechanics & Astronomy) 2024年第1期67卷 23-29页

作者： Ning xie Fa Peng huang MOE Key Laboratory of TianQin Mission TianQin Research Center for Gravitational Physics&School of Physics and AstronomyFrontiers Science Center for TianQinGravitational Wave Research Center of CNSASun Yat-sen University(Zhuhai Campus)Zhuhai 519082China

The axion or axion-like particle motivated from a natural solution of strong CP problem or string theory is a promising dark matter *** study the new observational effects of ultralight axion-like particles by the space-borne gravitational wave detector and the radio *** the neutron star-black hole binary as an example,we demonstrate that the gravitational waveform could be obviously modified by the slow depletion of the axion cloud around the black hole formed through the superradiance *** compare these new effects on the binary with the well-studied effects from dynamical friction with dark matter and dipole radiation in model-independent ***,we discuss the constraints from LIGO/Virgo and study the detectability of the ultralight axion particles at LISA and TianQin.

关键词： gravitational wave axion dark matter

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Effects of Aromatherapy on Physical and Mental Health of Cancer Patients Undergoing Radiotherapy and/or Chemotherapy: A Meta-Analysis

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Chinese Journal of Integrative Medicine 2024年第5期30卷 449-457页

作者： xie Shuang-ran MA Liang XU Xin-yu ZHOU Shu xie Hui-miao xie Chang-sheng The First Clinical Medical College Zhejiang Chinese Medical UniversityHangzhou 310053China Department of Medical Oncology Hangzhou Traditional Chinese Medicine Hospital Affiliated to Zhejiang Chinese Medical UniversityHangzhou 310007China Department of Dermatology the Third Xiangya HospitalCentral South UniversityChangsha 410013China Department of Famous Chinese Medicine Clinic the Second Affiliated Hospital of Zhejiang Chinese Medical UniversityHangzhou 310005China Department of Medical Oncology the First Affiliated Hospital of Zhejiang Chinese Medical UniversityHangzhou 310006China

Backgroup:Currently,aromatherapy is being increasingly utilized in clinical practice,particularly in managing the side effects associated with radiotherapy and ***,it remains to be established whether aromatherapy can effectively alleviate these ***:To investigate the effects of aromatherapy on the physical and mental health of patients with cancer undergoing radiotherapy and ***:Seven databases were researched from inception until September 29,2023,including PubMed,Scopus,and Web of Science,Chinese National Knowledge Infrastructure,Wanfang database,China Biology Medicine disc and VIP Chinese Medical Journal *** Manager version 5.3 was utilized for data *** Cochrane Risk of Bias tool RoB2 was employed to evaluate the quality of the literature included in the *** quality rating was assessed using the Grading of Recommendations Assessment,Development,and Evaluation(GRADE) approach through the GRADEpro GDT online ***:Nineteen studies involving 1,541 patients were *** can alleviate nausea [relative risk(RR)=0.64,95% confidence interval(CI):0.53 to 0.78,P<0.05,I^(2)=46%;standardized mean difference(SMD)=-0.86,95% CI:-1.21 to-0.51,P<0.05,I^(2)=64%] and vomiting(RR=0.54,95% CI:0.42 to 0.69,P<0.05,I^(2)=35%;SMD=-1.28,95% CI:-1.52 to-1.03,P<0.05,I^(2)=92%),improve sleep disorders [mean difference(MD)=-3.39,95% CI:-3.95 to-2.84,P<0.05,I^(2)=0%],relieve pain(SMD=-1.58,95% CI:-1.96 to-1.21,P<0.05,I^(2)=0%),mitigate fatigue(SMD=-1.28,95% CI:-2.44 to-0.11,P<0.05,I^(2)=93%) and enhance quality of life(SMD=0.50,95% CI:0.22 to 0.79,P<0.05,I^(2)=0%) in cancer patients after radiotherapy and chemotherapy,but it may not have a significant effect on *** risk of bias was high in the included studies using the Cochrane Risk of Bias tool RoB2,and no studies were considered to be of high grade according to the GRADE ***:Aromatherapy is an efficacious,safe a

关键词： aromatherapy cancer chemoradiotherapy physical psychological

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Risk stratification in gastric cancer lung metastasis: Utilizing an overall survival nomogram and comparing it with previous staging

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World Journal of Gastrointestinal Surgery 2024年第2期16卷 357-381页

作者： Zhi-Ren Chen Mei-Fang Yang Zhi-Yuan xie Pei-An Wang Liang Zhang Ze-hua huang Yao Luo Department of Science and Education Xuzhou Medical UniversityXuzhou Clinical CollegeXuzhou 221000Jiangsu ProvinceChina Department of Neurology Xuzhou Medical UniversityXuzhou 221000Jiangsu ProvinceChina Department of Neurology Clinical LaboratoryGastrointestinal SurgeryCentral Hospital of XuzhouCentral Hospital of XuzhouXuzhou 221000Jiangsu ProvinceChina Department of Public Health Xuzhou Central HospitalXuzhou 221000Jiangsu ProvinceChina Department of Gastroenterology Xuzhou Centre HospitalXuzhou 221000Jiangsu ProvinceChina Department of Public Health Xuzhou Medical UniversityXuzhou 221000Jiangsu ProvinceChina

BACKGROUND Gastric cancer(GC)is prevalent and aggressive,especially when patients have distant lung metastases,which often places patients into advanced *** identifying prognostic variables for lung metastasis in GC patients,it may be po-ssible to construct a good prediction model for both overall survival(OS)and the cumulative incidence prediction(CIP)plot of the *** To investigate the predictors of GC with lung metastasis(GCLM)to produce nomograms for OS and generate CIP by using cancer-specific survival(CSS)*** Data from January 2000 to December 2020 involving 1652 patients with GCLM were obtained from the Surveillance,epidemiology,and end results program *** major observational endpoint was OS;hence,patients were se-parated into training and validation *** analysis determined va-rious *** and multivariate Cox analyses validated the independent predictive *** distinction and calibration were performed with the time-dependent area under the curve(AUC)and calibration *** evaluate the accuracy and clinical usefulness of the nomograms,decision curve analysis(DCA)was *** clinical utility of the novel prognostic model was compared to that of the 7th edition of the American Joint Committee on Cancer(AJCC)staging system by utilizing Net Reclassification Improvement(NRI)and Integrated Discrimination Improvement(IDI).Finally,the OS prognostic model and Cox-AJCC risk stratification model modified for the AJCC system were *** For the purpose of creating the OS nomogram,a CIP plot based on CSS was *** multivariate regression analysis identified eleven significant prognostic factors(P0),time-de-pendent ROC curve(training/v

关键词： Gastric cancer Lung metastasis Nomograms Surveillance Epidemiology Surveillance epidemiology and end results program database Overall survival Prognosis

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