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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141,DDHD2,and LHFPL5

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Frontiers of medicine 2024年第1期18卷 81-97页

作者： Liwei Sun Xueting Yang Amjad Khan Xue Yu Han Zhang Shirui Han Xiaerbati Habulieti Yang Sun Rongrong Wang Xue Zhang McKusick-Zhang Center for Genetic medicine State Key Laboratory for Complex Severe and Rare DiseasesInstitute of Basic Medical Sciences Chinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijing100005China Chongqing Key Laboratory of Human Embryo Engineering Center for Reproductive MedicineNational Key Clinical Speciality Construction Project(Obstetrics and Gynecology)Chongqing Health Center for Women and ChildrenChongqing400013China Chongqing Clinical Research Center for Reproductive medicine Women and Children’s Hospital of Chongqing Medical UniversityChongqing400013China Faculty of Biological Sciences Department of ZoologyUniversity of Lakki MarwatKhyber Pakhtunkhwa28420Pakistan Institute for medical Genetics and Applied Genomics University of TübingenTübingen72076Germany Alexander von Humboldt fellowship Foundation Berlin10117Germany Department of Pediatrics The First Affiliated Hospital of Guangxi Medical UniversityNanning530000China Department of Laboratory medicine State Key Laboratory for Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Science and Peking Union Medical CollegeBeijing100730China

Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and *** variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic ***,a Pakistani family with parental consanguinity was presented,characterized with severe intellectual disability(ID),spastic paraplegia,and *** mapping,integrated single nucleotide polymorphism(SNP)array,whole-exome sequencing,and whole-genome sequencing were performed,and homozygous variants in TMEM141(c.270G>A,***90^(*)),DDHD2(c.411+767_c.1249-327del),and LHFPL5(c.250delC,***84^(*))were identified.A Tmem141^(***90^(*)/***90^(*))mouse model was *** studies showed impairments in learning ability and motor *** slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje *** electron microscopy showed abnormal mitochondrial ***,studies on a human in vitro neuronal model(SH-SY5Y cells)with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function,possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse ***,panoramic variation analysis revealed that multilocus genomic variations of TMEM141,DDHD2,and LHFPL5 together caused variable phenotypes in ***,the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

关键词： neurodevelopmental disorder autosomal recessive intellectual disability consanguinity spastic paraplegia hearing loss TMEM141

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Chemical composition and pharmacological activity of seco-prezizaane-type sesquiterpenes

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chinese Herbal medicines 2024年第1期16卷 70-81页

作者： Ye Jin Yanqing Xie Peng Zhang Afsar Khan Zhihong Zhou Lu Liu yunnan Yunzhong Institute of Nutrition and Health Yunnan University of Chinese MedicineKunming 650500China Department of Chemistry COMSATS University IslamabadAbbottabad CampusAbbottabad 22060Pakistan

The seco-prezizaane-type sesquiterpenes(SPS),as a special class of sesquiterpenes with a highly oxidative five-ring cage structure and seven consecutive chiral centers,are isolated from the genus Illicium,which have a variety of biological activities,including neurotoxicity and neurotrophic effects,*** review summarizes the chemical constituents and pharmacological effects of SPS,and discusses the potential trend and scope of future research.

关键词： anisatin chemical composition Illicium genus majucin pharmacological activity seco-prezizaane-type sesquiterpenes

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Neddylation is a novel therapeutic target for lupus by regulating double negative T cell homeostasis

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Signal Transduction and Targeted Therapy 2024年第2期9卷 738-750页

作者： Yun Zhang Lijun Du Chenxi Wang Zhangsheng Jiang Qingchi Duan Yiping Li Zhijun Xie Zhixing He Yi Sun Lin Huang Liwei Lu Chengping Wen Key Laboratory of chinese medicine rheumatology of Zhejiang Province Research Institute of Chinese Medical Clinical Foundation and ImmunologyCollege of Basic Medical ScienceZhejiang Chinese Medical UniversityHangzhou 310053China Department of General Surgery Sir Run Run Shaw HospitalZhejiang University School of MedicineHangzhou 310016China Cancer Institute(Key Laboratory of Cancer Prevention and Intervention China National Ministry of Education)of the Second Affiliated Hospital and Institute of Translational MedicineZhejiang University School of MedicineHangzhou 310029China Cancer Center of Zhejiang university Hangzhou 310029China Department of Pathology and Shenzhen Institute of Research and Innovation The University of Hong KongHong KongChina Chongqing International Institute for Immunology Chongqing 400038China

Systemic lupus erythematosus(SLE),a severe autoimmune disorder,is characterized by systemic inflammatory response,autoantibody accumulation and damage to *** dysregulation of double-negative(DN)T cells is considered as a crucial commander during ***,a significant type of protein post-translational modification(PTM),has been well-proved to regulate T cell-mediated immune ***,the function of neddylation in SLE is still ***,we reported that neddylation inactivation with MLN4924,a specific inhibitor of NEDD8-activating enzyme E1(NAE1),or genetic abrogation of Ube2m in T cells decreased DN T cell accumulation and attenuated murine lupus *** investigations revealed that inactivation of neddylation blocked Bim ubiquitination degradation and maintained Bim level in DN T cells,contributing to the apoptosis of the accumulated DN T cells in lupus *** double knockout(KO)lupus-prone mice(Ube2m-/-Bim-/-lpr)were generated and results showed that loss of Bim reduced Ube2m deficiency-induced apoptosis in DN T cells and reversed the alleviated lupus *** findings identified that neddylation inactivation promoted Bim-mediated DN T cell apoptosis and attenuated lupus ***,we also found that in SLE patients,the proportion of DN T cells was raised and their apoptosis was ***,compared to healthy groups,SLE patients exhibited decreased Bim levels and elevated Cullin1 neddylation ***,the inhibition of neddylation induced Bim-dependent apoptosis of DN T cells isolated from SLE ***,our findings provide the direct evidence about the function of neddylation during lupus,suggesting a promising therapeutic approach for this disease.

关键词： inactivation double finding

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Historical biogeography and evolutionary diversification of Lilium(Liliaceae): New insights from plastome phylogenomics

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Plant Diversity 2024年第2期46卷 219-228页

作者： Nian Zhou Ke Miao Changkun Liu Linbo Jia Jinjin Hu Yongjiang Huang Yunheng Ji CAS Key Laboratory for Plant Diversity and Biogeography of East Asia Kunming Institute of BotanyChinese Academy of SciencesKunmingYunnan 650201China university of chinese Academy of Sciences Beijing 100049China Key Laboratory of Bio-Resources and Eco-Environment of Ministry of Education College of Life SciencesSichuan UniversityChengduSichuan 610065China yunnan Key Laboratory for Integrative Conservation of Plant Species with Extremely Small Population Kunming Institute of BotanyChinese Academy of SciencesKunmingYunnan 650201China

Here, we infer the historical biogeography and evolutionary diversification of the genus Lilium. For this purpose, we used the complete plastomes of 64 currently accepted species in the genus Lilium(14plastomes were newly sequenced) to recover the phylogenetic backbone of the genus and a timecalibrated phylogenetic framework to estimate biogeographical history scenarios and evolutionary diversification rates of Lilium. Our results suggest that ancient climatic changes and geological tectonic activities jointly shaped the distribution range and drove evolutionary radiation of Lilium, including the Middle Miocene Climate Optimum(MMCO), the late Miocene global cooling, as well as the successive uplift of the Qinghai-Tibet Plateau(QTP) and the strengthening of the monsoon climate in East Asia during the late Miocene and the Pliocene. This case study suggests that the unique geological and climatic events in the Neogene of East Asia, in particular the uplift of QTP and the enhancement of monsoonal climate, may have played an essential role in formation of uneven distribution of plant diversity in the Northern Hemisphere.

关键词： Asian monsoon Climatic changes Distribution range Evolutionary complexity Radiative diversification Species diversity Qinghai-Tibet Plateau(QTP)

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Association between coronary artery stenosis and myocardial injury in patients with acute pulmonary embolism: A case-control study

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中华医学杂志(英文版) 2024年第16期137卷 2024 Jul 12页

作者： Yang Yinjian Liu Chao Ma Jieling Zhu Xijie Ma Jingsi Lu Dan Yan Xinxin Gao Xuan Wang Jia Wang Liting Zhang Sijin Li Xianmei Wu Bingxiang Sun Kai Mao Yimin Xu Xiqi Lian Tianyu Cheng Chunyan Jing Zhicheng medical Science Research Center Institute of Clinical Medicine State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China Department of Cardiology Guangdong Cardiovascular Institute Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences) Southern Medical University Guangzhou Guangdong China Department of Cardiology State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China Department of School of Pharmacy Henan University Kaifeng Henan China Cardiac Department Aerospace Center Hospital Peking University Aerospace School of Clinical Medicine Beijing China Department of Cardiology State Key Laboratory of Cardiovascular Disease National Center for Cardiovascular Diseases Fuwai Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China Department of Cardiovascular medicine The Second Affiliated Hospital of Harbin Medical University Harbin Heilongjiang China Department of medical Laboratory Weifang Medical University Weifang Shandong China Department of Respiratory medicine The First Affiliated Hospital of Henan University of Science and Technology Luoyang Henan China Center of basic medical Research Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences) Southern Medical University Guangzhou Guangdong China

Background: The potential impact of pre-existing coronary artery stenosis (CAS) on acute pulmonary embolism (PE) episodes remains underexplored. This study aimed to investigate the association between pre-existing CAS and the elevation of high-sensitivity cardiac troponin I (hs-cTnI) levels in patients with ***: In this multicenter, prospective case-control study, 88 cases and 163 controls matched for age, sex, and study center were enrolled. Cases were patients with PE with elevated hs-cTnI. Controls were patients with PE with normal hs-cTnI. Coronary artery assessment utilized coronary computed tomographic angiography or invasive coronary angiography. CAS was defined as ≥50% stenosis of the lumen diameter in any coronary vessel >2.0 mm in diameter. Conditional logistic regression was used to evaluate the association between CAS and hs-cTnI ***: The percentage of CAS was higher in the case group compared to the control group (44.3% [39/88]vs. 30.1% [49/163];P = 0.024). In multivariable conditional logistic regression model 1, CAS (adjusted odds ratio [OR], 2.680; 95% confidence interval [CI], 1.243–5.779), heart rate >75 beats/min (OR, 2.306; 95% CI, 1.056–5.036) and N-terminal pro-B type natriuretic peptide (NT-proBNP) >420 pg/mL (OR, 12.169; 95% CI, 4.792–30.900) were independently associated with elevated hs-cTnI. In model 2, right CAS (OR, 3.615; 95% CI, 1.467–8.909) and NT-proBNP >420 pg/mL (OR, 13.890; 95% CI, 5.288–36.484) were independently associated with elevated ***: CAS was independently associated with myocardial injury in patients with PE. Vigilance towards CAS is warranted in patients with PE with elevated cardiac troponin levels.

关键词： Pulmonary embolism Coronary artery stenosis Myocardial injury Cardiac troponin I Myocardial ischemia Right ventricular dysfunction Case-control study Coronary computed tomography angiography

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Changes of mitochondrial dynamics during the progression of non-alcoholic fatty liver disease: a review

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Biomedical Engineering Communications 2024年第1期3卷 15-20页

作者： Man-Na Li Ling Yang Huan-Tian Cui Jia-Bao Liao Ning Wang Jing Miao Ying Zhang Hai-Di Wang School of Nursing Yunnan University of Chinese MedicineKunming 650500China The First Clinical medical college of yunnan university of chinese medicine Kunming 650500China Department of chinese medicine Tianjin Second People's HospitalTianjin 30012China

Non-alcoholic fatty liver disease(NAFLD)is a chronic liver disease closely related to metabolic disorders that pose a serious threat to human ***,no specific drugs are available for treating the aetiology of NAFLD in clinical *** have various biological functions inside the *** have found that mitochondrial fission and fusion are closely related to ***,identifying therapeutic targets for NAFLD through mitochondrial fission and fusion is *** in the field of traditional chinese medicine,good therapeutic effects have been achieved in the treatment of NAFLD by protecting mitochondrial fusion and ***,this article reviews the relationship between mitochondrial dynamics and NAFLD as well as the treatment of NAFLD through the regulation of mitochondrial fission and fusion with traditional chinese medicine to provide a reference for the clinical application of traditional chinese medicine in regulating mitochondrial fission and fusion functions to treat NAFLD.

关键词： mitochondrial dynamics NAFLD traditional chinese medicine

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Comparative analyses of mitogenomes in the social bees with insights into evolution of long inverted repeats in the Meliponini

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Zoological Research 2024年第1期45卷 160-175页

作者： Yu-Ran Li Zheng-Wei Wang Richard T.Corlett Wen-Bin Yu yunnan Key Laboratory for the Conservation of Tropical Rainforests and Asian Elephants&Center for Integrative Conservation Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesMenglaYunnan 666303China CAS Key Laboratory of Tropical Forest Ecology Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesMenglaYunnan 666303China Southeast Asia Biodiversity Research Institute Chinese Academy of SciencesMenglaYunnan 666303China university of chinese Academy of Sciences Shijingshan DistrictBeijing 100049China

The insect mitogenome is typically a compact circular molecule with highly conserved gene ***,mitogenome structural variations have been reported in specific taxa,and gene rearrangements,usually the tRNAs,occur in different *** synapomorphies of mitogenome organizations can provide information for phylogenetic inferences,comparative analyses of mitogenomes have been given increasing ***,most studies use a very few species to represent the whole genus,tribe,family,or even order,overlooking potential variations at lower taxonomic levels,which might lead to some incorrect *** provide new insights into mitogenome organizations and their implications for phylogenetic inference,this study conducted comparative analyses for mitogenomes of three social bee tribes(Meliponini,Bombini,and Apini)based on the phylogenetic framework with denser taxonomic sampling at the species and population *** analyses revealed that mitogenomes of Apini and Bombini are the typical type,while those of Meliponini show diverse variations in mitogenome sizes and *** inverted repeats(IRs)cause significant gene rearrangements of protein coding genes(PCGs)and rRNAs in Indo-Malay/Australian stingless bee *** evolution analyses showed that the lineage with IRs have lower dN/dS ratios for PCGs than lineages without IRs,indicating potential effects of IRs on the evolution of mitochondrial *** finding of IRs and different patterns of gene rearrangements suggested that Meliponini is a hotspot in mitogenome *** conserved PCGs and rRNAs whose rearrangements were found only in the mentioned lineages within Meliponini,tRNA rearrangements are common across all three tribes of social bees,and are significant even at the species level,indicating that comprehensive sampling is needed to fully understand the patterns of tRNA rearrangements,and their implications for phylogenetic inference.

关键词： Social bees Phylogeny Mitogenome structure Gene rearrangement Inverted repeats

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Cellular zinc metabolism and zinc signaling:from biological functions to diseases and therapeutic targets

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Signal Transduction and Targeted Therapy 2024年第2期9卷 401-441页

作者： Bonan Chen Peiyao Yu Wai Nok Chan Fuda Xie Yigan Zhang Li Liang Kam Tong Leung Kwok Wai Lo Jun Yu Gary M.K.Tse Wei Kang Ka Fai To Department of Anatomical and Cellular Pathology State Key Laboratory of Translational OncologyPrince of Wales HospitalThe Chinese University of Hong KongHong KongChina State Key Laboratory of Digestive Disease Institute of Digestive DiseaseThe Chinese University of Hong KongHong KongChina CUHK-Shenzhen Research Institute The Chinese University of Hong KongShenzhenChina Department of Pathology Nanfang Hospital and Basic Medical CollegeSouthern Medical UniversityGuangdong Province Key Laboratory of Molecular Tumor PathologyGuangzhouChina Institute of Biomedical Research Taihe HospitalHubei University of MedicineShiyanChina Department of Pediatrics The Chinese University of Hong KongHong KongChina Department of medicine and Therapeutics The Chinese University of Hong KongHong KongChina

Zinc metabolism at the cellular level is critical for many biological processes in the body.A key observation is the disruption of cellular homeostasis,often coinciding with disease *** an essential factor in maintaining cellular equilibrium,cellular zinc has been increasingly spotlighted in the context of disease *** research suggests zinc’s involvement in promoting malignancy and invasion in cancer cells,despite its low tissue *** has led to a growing body of literature investigating zinc’s cellular metabolism,particularly the functions of zinc transporters and storage mechanisms during cancer *** transportation is under the control of two major transporter families:SLC30(ZnT)for the excretion of zinc and SLC39(ZIP)for the zinc ***,the storage of this essential element is predominantly mediated by metallothioneins(MTs).This review consolidates knowledge on the critical functions of cellular zinc signaling and underscores potential molecular pathways linking zinc metabolism to disease progression,with a special focus on *** also compile a summary of clinical trials involving zinc *** the main localization of zinc transporters at the cell membrane,the potential for targeted therapies,including small molecules and monoclonal antibodies,offers promising avenues for future exploration.

关键词： metabolism invasion involvement

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Design of pH-responsive antimicrobial peptide melittin analog-camptothecin conjugates for tumor therapy

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Asian Journal of Pharmaceutical Sciences 2024年第1期19卷 135-146页

作者： Sujie Huang Yuxuan Gao Ling Ma Bo Jia Wenhao Zhao Yufan Yao Wenyuan Li Tongyi Lin Rui Wang Jingjing Song Wei Zhang Institute of Pharmacology School of Basic Medical SciencesLanzhou UniversityLanzhou 730000China Key Laboratory of Preclinical Study for New Drugs of Gansu Province School of Basic Medical Sciences&Research Unit of Peptide ScienceChinese Academy of Medical SciencesLanzhou UniversityLanzhou 730000China State Key Laboratory of Veterinary Etiological Biology College of Veterinary MedicineLanzhou UniversityLanzhou 730000China Lanzhou university Second Hospital Lanzhou UniversityLanzhou 730000China

Melittin,a classical antimicrobial peptide,is a highly potent antitumor ***,its significant toxicity seriously hampers its application in tumor *** this study,we developed novel melittin analogs with pH-responsive,cell-penetrating and membranelytic activities by replacing arginine and lysine with *** conjugation with camptothecin(CPT),CPT-AAM-1 and CPT-AAM-2 were capable of killing tumor cells by releasing CPT at low concentrations and disrupting cell membranes at high concentrations under acidic ***,we found that the C-terminus of the melittin analogs was more suitable for drug conjugation than the ***-AAM-1 significantly suppressed melanoma growth in vivo with relatively low ***,the present study demonstrates that the development of antitumor drugs based on pH-responsive antimicrobial peptide-drug conjugates is a promising strategy.

关键词： Antimicrobial peptide Peptide-drug conjugate Cell-penetrating activity Membrane disruption Antitumor activity

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An immunogenic cell death-related signature for prediction of prognosis and response to immunotherapy in breast cancer

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chinese medical Journal 2024年第4期137卷 487-489页

作者： Cong Li Fengzhu Guo Jingtong Zhai Xiaohan Liu Zhijun Li Binghe Xu Department of medical Oncology National Cancer CenterNational Clinical Research Center for CancerCancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China Department of medical Oncology Sun Yat-sen University Cancer CenterGuangzhouGuangdong 510060China Department of medical Oncology Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Department of Histology and Embryology Basic Medical CollegeChina Medical UniversityShenyangLiaoning 110122China

To the Editor:Tumor immune microenvironment plays a key role in breast cancer development and progression,which determines the long-term survival of breast cancer *** data have revealed that the application of cancer immunotherapy has some limitations,including generating weak immune responses due to inadequate delivery of immunostimulants to the immune cells.^([1])Thus,current clinical efforts are primarily focused on developing immune-based chemotherapy that can convert non-responders to responders.^([2])Immunogenic cell death(ICD)is a form of regulated cell death that is sufficient to activate an adaptive immune response.

关键词： breast immunotherapy chemotherapy

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