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Identification and validation of a new prognostic signature based on cancer-associated fibroblast-driven genes in breast cancer
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作者 Zi-Zheng Wu Yuan-Jun Wei +3 位作者 Tong Li Jie Zheng Yin-Feng Liu Meng Han 《World Journal of Clinical Cases》 SCIE 2024年第4期700-720,共21页
BACKGROUND Breast cancer(BC),a leading malignant disease,affects women all over the world.Cancer associated fibroblasts(CAFs)stimulate epithelial-mesenchymal transition,and induce chemoresistance and immunosuppression... BACKGROUND Breast cancer(BC),a leading malignant disease,affects women all over the world.Cancer associated fibroblasts(CAFs)stimulate epithelial-mesenchymal transition,and induce chemoresistance and immunosuppression.AIM To establish a CAFs-associated prognostic signature to improve BC patient out-come estimation.METHODS We retrieved the transcript profile and clinical data of 1072 BC samples from The Cancer Genome Atlas(TCGA)databases,and 3661 BC samples from the The Gene Expression Omnibus.CAFs and immune cell infiltrations were quantified using CIBERSORT algorithm.CAF-associated gene identification was done by weighted gene co-expression network analysis.A CAF risk signature was established via univariate,least absolute shrinkage and selection operator regression,and mul-tivariate Cox regression analyses.The receiver operating characteristic(ROC)and Kaplan-Meier curves were employed to evaluate the predictability of the model.Subsequently,a nomogram was developed with the risk score and patient clinical signature.Using Spearman's correlations analysis,the relationship between CAF risk score and gene set enrichment scores were examined.Patient samples were collected to validate gene expression by quantitative real-time polymerase chain reaction(qRT-PCR).RESULTS Employing an 8-gene(IL18,MYD88,GLIPR1,TNN,BHLHE41,DNAJB5,FKBP14,and XG)signature,we attemp-ted to estimate BC patient prognosis.Based on our analysis,high-risk patients exhibited worse outcomes than low-risk patients.Multivariate analysis revealed the risk score as an independent indicator of BC patient prognosis.ROC analysis exhibited satisfactory nomogram predictability.The area under the curve showed 0.805 at 3 years,and 0.801 at 5 years in the TCGA cohort.We also demonstrated that a reduced CAF risk score was strongly associated with enhanced chemotherapeutic outcomes.CAF risk score was significantly correlated with most hallmark gene sets.Finally,the prognostic signature were further validated by qRT-PCR.CONCLUSION We introduced a newly-discovered CAFs-associated gene signature,which can be employed to estimate BC patient outcomes conveniently and accurately. 展开更多
关键词 Breast cancer Prognosis Gene signature The Cancer Genome Atlas The Gene Expression Omnibus
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New perspectives in prognostication of hepatocellular carcinoma:The role and clinical implications of transient receptor potential family genes
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作者 Shi-Hao Guan Wen-Jing Hu +2 位作者 Xin-Yu Wang Yue-Xia Gu De-Hua Zhou 《World Journal of Gastrointestinal Oncology》 SCIE 2024年第6期2862-2864,共3页
The study titled“Transient receptor potential-related risk model predicts prognosis of hepatocellular carcinoma patients”is a significant contribution to hepatocellular carcinoma(HCC)research,highlighting the role o... The study titled“Transient receptor potential-related risk model predicts prognosis of hepatocellular carcinoma patients”is a significant contribution to hepatocellular carcinoma(HCC)research,highlighting the role of transient receptor potential(TRP)family genes in the disease’s progression and prognosis.Utilizing data from The Cancer Genome Atlas database,it establishes a new risk assessment model,emphasizing the interaction of TRP genes with tumor proliferation pathways,key metabolic reactions like retinol metabolism,and the tumor immune microenvironment.Notably,the overexpression of the TRPC1 gene in HCC correlates with poorer patient survival outcomes,suggesting its potential as a prognostic biomarker and a target for personalized therapy,particularly in strategies combining immunotherapy and anti-TRP agents. 展开更多
关键词 Hepatocellular carcinoma Transient receptor potential channels TRPC1 gene Tumor immune microenvironment Cancer prognosis Bioinformatics in cancer research
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交互式数字叙事:加拿大Writing New Body Worlds阅读治疗新探索
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作者 牟晓青 于志涛 《图书馆论坛》 CSSCI 北大核心 2024年第4期222-230,F0003,共10页
文章基于相关研究文献与语料,对加拿大WNB阅读治疗实践进行梳理与归纳。WNB首次使用交互式数字叙事技术,构建面向公众的阅读治疗平台,以其交互式特征,融合了阅读和治疗引导两个过程,提供可访问的非临床方式,可面向大规模人群实现预防性... 文章基于相关研究文献与语料,对加拿大WNB阅读治疗实践进行梳理与归纳。WNB首次使用交互式数字叙事技术,构建面向公众的阅读治疗平台,以其交互式特征,融合了阅读和治疗引导两个过程,提供可访问的非临床方式,可面向大规模人群实现预防性健康干预。基于数据与计算的精准化阅读治疗是数字人文视角下的新变革,更具推广应用价值;以在线阅读平台建设为依托,推进实施平台化的阅读和治疗应成为未来发展方向之一;基于阅读形态与体验因技术赋能而改变的现状,图书馆应发挥引领作用,积极收集、创建或协助创建数字故事,推进阅读推广、服务与治疗的融合性发展,成为社区建设促进者、历史欣赏者和社区参与倡导者,也使阅读借助交互式数字叙事这一新载体,更好地发挥变革的力量,促进健康与幸福。 展开更多
关键词 交互式数字叙事 阅读治疗 Writing new Body Worlds 加拿大
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网络新媒体视阈下客家议题在日传播特征分析——基于日本Google News的考察
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作者 李晓霞 周巍 《肇庆学院学报》 2024年第1期116-123,共8页
以日本Google News中的客家相关日文报道为语料,通过文本挖掘工具KH Coder进行文本数据挖掘,发现日本网络新闻媒体的客家议题日文报道具有分布零散性及以图片报道为主的特点。报道关注的客家区域主要涉及台湾地区、福建、香港地区、广... 以日本Google News中的客家相关日文报道为语料,通过文本挖掘工具KH Coder进行文本数据挖掘,发现日本网络新闻媒体的客家议题日文报道具有分布零散性及以图片报道为主的特点。报道关注的客家区域主要涉及台湾地区、福建、香港地区、广东等地,其中,台湾地区的客家关注度最高。报道聚焦客家的观光旅游、产业振兴、客家书籍出版等相关内容,形成了客家传统建筑类、台湾地区客家文化交流类、客家文学作品推介类、客家观光旅游类等四大主要议题。本文提出要充分运用Google News等网络新媒体强大的技术功能和传播优势加大客家文化的传播力度。 展开更多
关键词 网络新媒体 客家文化 日本传播 Google news KH Coder
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Characterization of wheat monogenic lines with known Sr genes and wheat cultivars for resistance to three new races of Puccinia graminis f. sp. tritici in China 被引量:1
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作者 WU Xian-xin ZANG Chao-qun +4 位作者 ZHANG Ya-zhao XU Yi-wei WANG Shu LI Tian-ya GAO Li 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2023年第6期1740-1749,共10页
Wheat stem rust, caused by Puccinia graminis f. sp. tritici(Pgt), is a potentially devastating fungal disease of wheat worldwide. The present study was to evaluate the resistance of 42 wheat monogenic lines with known... Wheat stem rust, caused by Puccinia graminis f. sp. tritici(Pgt), is a potentially devastating fungal disease of wheat worldwide. The present study was to evaluate the resistance of 42 wheat monogenic lines with known stem rust resistance(Sr) genes and 69 wheat cultivars to three new Pgt races(34C0MRGQM, 34C3MKGQM, and 34C6MTGSM)identified from aeciospores at the seedling and adult-plant stages. The phenotyping results revealed that monogenic lines harboring resistance genes Sr9e, Sr17, Sr21, Sr22, Sr26, Sr30, Sr31, Sr33, Sr35, Sr36, Sr37, Sr38, Sr47, SrTmp,and SrTt3 were effectively resistant to all three Pgt races at the seedling and adult-plant stages. In contrast, monogenic lines containing Sr5, Sr6, Sr7b, Sr9a, Sr9d, Sr9f, Sr9g, Sr9b, Sr16, Sr24, Sr28, and Sr39 were highly susceptible to these races at both seedling and adult-plant stages. The other lines with Sr8a, Sr10, Sr11, Sr13, Sr14, Sr15, Sr18, Sr20,Sr19, Sr23, Sr25, Sr27, Sr29, Sr32, and Sr34, displayed variable levels of resistance to one or two of the tested races.Seedling infection types(ITs) and adult-plant infection responses(IRs) indicated that 41(59.4%) of the wheat cultivars showed high resistance to all the three races. Molecular marker analysis showed that four wheat culitvars likely carried Sr2, 20 wheat culitvars likely carried Sr31, 9 wheat culitvars likely carried Sr38, and none of the cultivars carried Sr24,Sr25, and Sr26. Our results provide a scientific basis for rational utilization of the tested Sr genes and wheat cultivars against these novel Pgt races. 展开更多
关键词 wheat stem rust Puccinia graminis f.sp.tritici wheat cultivars resistance genes
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New insights into the therapeutic approaches for the treatment of tauopathies 被引量:2
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作者 Himanshi Singh Asmita Das +1 位作者 Mohammad Moshahid Khan Tayebeh Pourmotabbed 《Neural Regeneration Research》 SCIE CAS CSCD 2024年第5期1020-1026,共7页
Tauopathies are a group of neurological disorders,including Alzheimer’s disease and frontotemporal dementia,which involve progressive neurodegeneration,cognitive deficits,and aberrant tau protein accumulation.The dev... Tauopathies are a group of neurological disorders,including Alzheimer’s disease and frontotemporal dementia,which involve progressive neurodegeneration,cognitive deficits,and aberrant tau protein accumulation.The development of tauopathies cannot currently be stopped or slowed down by treatment measures.Given the significant contribution of tau burden in primary tauopathies and the strong association between pathogenic tau accumulation and cognitive deficits,there has been a lot of interest in creating therapies that can alleviate tau pathology and render neuroprotective effects.Recently,small molecules,immunotherapies,and gene therapy have been used to reduce the pathological tau burden and prevent neurodegeneration in animal models of tauopathies.However,the major pitfall of the current therapeutic approach is the difficulty of drugs and gene-targeting modalities to cross the blood-brain barrier and their unintended side effects.In this review,the current therapeutic strategies used for tauopathies including the use of oligonucleotide-based gene therapy approaches that have shown a promising result for the treatment of tauopathies and Alzheimer’s disease in preclinical animal models,have been discussed. 展开更多
关键词 DEMENTIA gene therapies IMMUNOTHERAPY NEURODEGENERATION OLIGONUCLEOTIDES tau TAUOPATHIES THERAPIES
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Detection of new candidate genes controlling seed weight by integrating gene coexpression analysis and QTL mapping in Brassica napus L.
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作者 Hongli Dong Lei Yang +9 位作者 Yilin Liu Guifu Tian Huan Tang Shuangshuang Xin Yixin Cui Qing Xiong Huafang Wan Zhi Liu Christian Jung Wei Qian 《The Crop Journal》 SCIE CSCD 2023年第3期842-851,共10页
Seed weight is a component of seed yield in rapeseed(Brassica napus L.).Although quantitative trait loci(QTL)for seed weight have been reported in rapeseed,only a few causal quantitative trait genes(QTGs)have been ide... Seed weight is a component of seed yield in rapeseed(Brassica napus L.).Although quantitative trait loci(QTL)for seed weight have been reported in rapeseed,only a few causal quantitative trait genes(QTGs)have been identified,resulting in a limitation in understanding of seed weight regulation.We constructed a gene coexpression network at the early seed developmental stage using transcripts of 20,408 genes in QTL intervals and 1017 rapeseed homologs of known genes from other species.Among the 10 modules in this gene coexpression network,modules 1 and 2 were core modules and contained genes involved in source–flow–sink processes such as synthesis and transportation of fatty acid and protein,and photosynthesis.A hub gene SERINE CARBOXYPEPTIDASE-LIKE 19(SCPL19)was identified by candidate gene association analysis in rapeseed and functionally investigated using Arabidopsis T-DNA mutant and overexpression lines.Our study demonstrates the power of gene coexpression analysis to prioritize candidate genes from large candidate QTG sets and enhances the understanding of molecular mechanism for seed weight at the early developmental stage in rapeseed. 展开更多
关键词 Brassica napus L Gene coexpression network Quantitative trait gene SCPL19 Seed weight
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Identification of hub genes associated with Helicobacter pylori infection and type 2 diabetes mellitus:A pilot bioinformatics study 被引量:1
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作者 Han Chen Guo-Xin Zhang Xiao-Ying Zhou 《World Journal of Diabetes》 SCIE 2024年第2期170-185,共16页
BACKGROUND Helicobacter pylori(H.pylori)infection is related to various extragastric diseases including type 2 diabetes mellitus(T2DM).However,the possible mechanisms connecting H.pylori infection and T2DM remain unkn... BACKGROUND Helicobacter pylori(H.pylori)infection is related to various extragastric diseases including type 2 diabetes mellitus(T2DM).However,the possible mechanisms connecting H.pylori infection and T2DM remain unknown.AIM To explore potential molecular connections between H.pylori infection and T2DM.METHODS We extracted gene expression arrays from three online datasets(GSE60427,GSE27411 and GSE115601).Differentially expressed genes(DEGs)commonly present in patients with H.pylori infection and T2DM were identified.Hub genes were validated using human gastric biopsy samples.Correlations between hub genes and immune cell infiltration,miRNAs,and transcription factors(TFs)were further analyzed.RESULTS A total of 67 DEGs were commonly presented in patients with H.pylori infection and T2DM.Five significantly upregulated hub genes,including TLR4,ITGAM,C5AR1,FCER1G,and FCGR2A,were finally identified,all of which are closely related to immune cell infiltration.The gene-miRNA analysis detected 13 miRNAs with at least two gene cross-links.TF-gene interaction networks showed that TLR4 was coregulated by 26 TFs,the largest number of TFs among the 5 hub genes.CONCLUSION We identified five hub genes that may have molecular connections between H.pylori infection and T2DM.This study provides new insights into the pathogenesis of H.pylori-induced onset of T2DM. 展开更多
关键词 Helicobacter pylori Type 2 diabetes mellitus Bioinformatics analysis Differentially expressed genes Hub genes
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Boehmeria nivea var. strigosa (Urticaceae), a new variety from Southwest China 被引量:1
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作者 ZHAO Ying Richard I.MILNE +2 位作者 LI Zhipeng Amos KIPKOECH WU Zengyuan 《广西植物》 CAS CSCD 北大核心 2024年第9期1617-1624,I0001-I0006,共14页
Boehmeria nivea var.strigosa Zeng Y.Wu&Y.Zhao,a new variety of B.nivea(Urticaceae)from Southwest China,is here described based on evidence from morphology and molecular phylogeny.This new variety is mainly charact... Boehmeria nivea var.strigosa Zeng Y.Wu&Y.Zhao,a new variety of B.nivea(Urticaceae)from Southwest China,is here described based on evidence from morphology and molecular phylogeny.This new variety is mainly characterized by its green abaxial leaf blade,partly connate stipules,and densely patent strigose hairs on stems and potioles.The phylogenetic analysis based on rbc L,nrDNA and rbc L+nrDNA datasets,revealed that all individuals of B.nivea var.strigosa formed a monophyletic group.The conservation status of B.nivea var.strigosa is assessed as“Near Threatened”(NT)according to IUCN evaluation criteria.The discovery of this new variety is not only crucial for the taxonomy of ramie,but also provides reference for the exploration and utilization of ramie. 展开更多
关键词 Boehmeria nivea MORPHOLOGY molecular phylogeny new variety Southwest China YUNNAN
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Mining elite loci and candidate genes for root morphology-related traits at the seedling stage by genome-wide association studies in upland cotton(Gossypium hirsutum L.) 被引量:1
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作者 Huaxiang Wu Xiaohui Song +3 位作者 Muhammad Waqas-Amjid Chuan Chen Dayong Zhang Wangzhen Guo 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2024年第10期3406-3418,共13页
Root system architecture plays an essential role in water and nutrient acquisition in plants,and it is significantly involved in plant adaptations to various environmental stresses.In this study,a panel of 242 cotton ... Root system architecture plays an essential role in water and nutrient acquisition in plants,and it is significantly involved in plant adaptations to various environmental stresses.In this study,a panel of 242 cotton accessions was collected to investigate six root morphological traits at the seedling stage,including main root length(MRL),root fresh weight(RFW),total root length(TRL),root surface area(RSA),root volume(RV),and root average diameter(AvgD).The correlation analysis of the six root morphological traits revealed strong positive correlations of TRL with RSA,as well as RV with RSA and AvgD,whereas a significant negative correlation was found between TRL and AvgD.Subsequently,a genome-wide association study(GWAS)was performed using the root phenotypic and genotypic data reported previously for the 242 accessions using 56,010 single nucleotide polymorphisms(SNPs)from the CottonSNP80K array.A total of 41 quantitative trait loci(QTLs)were identified,including nine for MRL,six for RFW,nine for TRL,12 for RSA,12 for RV and two for AvgD.Among them,eight QTLs were repeatedly detected in two or more traits.Integrating these results with a transcriptome analysis,we identified 17 candidate genes with high transcript values of transcripts per million(TPM)≥30 in the roots.Furthermore,we functionally verified the candidate gene GH_D05G2106,which encodes a WPP domain protein 2in root development.A virus-induced gene silencing(VIGS)assay showed that knocking down GH_D05G2106significantly inhibited root development in cotton,indicating its positive role in root system architecture formation.Collectively,these results provide a theoretical basis and candidate genes for future studies on cotton root developmental biology and root-related cotton breeding. 展开更多
关键词 cotton root-morphology traits quantitative trait loci candidate genes GWAS
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New direction for surgery:Super minimally invasive surgery 被引量:2
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作者 En-Qiang Linghu 《World Journal of Gastroenterology》 SCIE CAS 2024年第12期1676-1679,共4页
The top goal of modern medicine is treating disease without destroying organ structures and making patients as healthy as they were before their sickness.Minimally invasive surgery(MIS)has dominated the surgical realm... The top goal of modern medicine is treating disease without destroying organ structures and making patients as healthy as they were before their sickness.Minimally invasive surgery(MIS)has dominated the surgical realm because of its lesser invasiveness.However,changes in anatomical structures of the body and reconstruction of internal organs or different organs are common after traditional surgery or MIS,decreasing the quality of life of patients post-operation.Thus,I propose a new treatment mode,super MIS(SMIS),which is defined as“curing a disease or lesion which used to be treated by MIS while preserving the integrity of the organs”.In this study,I describe the origin,definition,operative channels,advantages,and future perspectives of SMIS. 展开更多
关键词 Super minimally invasive surgery Minimally invasive surgery Treatment mode Traditional Surgery new direction for surgery
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Knockdown of the atypical protein kinase genes GhABC1K2-A05 and GhABC1K12-A07 make cotton more sensitive to salt and PEG stress 被引量:1
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作者 Caixiang Wang Meili Li +3 位作者 Dingguo Zhang Xueli Zhang Juanjuan Liu Junji Su 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2024年第10期3370-3386,共17页
Activity of bc1 complex kinase(ABC1K)is an atypical protein kinase(aPK)that plays a crucial role in plant mitochondrial and plastid stress responses,but little is known about the responses of ABC1Ks to stress in cotto... Activity of bc1 complex kinase(ABC1K)is an atypical protein kinase(aPK)that plays a crucial role in plant mitochondrial and plastid stress responses,but little is known about the responses of ABC1Ks to stress in cotton(Gossypium spp.).Here,we identified 40 ABC1Ks in upland cotton(Gossypium hirsutum L.)and found that the Gh ABC1Ks were unevenly distributed across 17 chromosomes.The GhABC1K family members included 35 paralogous gene pairs and were expanded by segmental duplication.The GhABC1K promoter sequences contained diverse cis-acting regulatory elements relevant to hormone or stress responses.The qRT-PCR results revealed that most Gh ABC1Ks were upregulated by exposure to different stresses.Gh ABC1K2-A05 and Gh ABC1K12-A07 expression levels were upregulated by at least three stress treatments.These genes were further functionally characterized by virus-induced gene silencing(VIGS).Compared with the controls,the Gh ABC1K2-A05-and Gh ABC1K12-A07-silenced cotton lines exhibited higher malondialdehyde(MDA)contents,lower catalase(CAT),peroxidase(POD)and superoxide dismutase(SOD)activities and reduced chlorophyll and soluble sugar contents under NaCl and PEG stress.In addition,the expression levels of six stress marker genes(Gh DREB2A,Gh SOS1,Gh CIPK6,Gh SOS2,Gh WRKY33,and Gh RD29A)were significantly downregulated after stress in the Gh ABC1K2-A05-and Gh ABC1K12-A07-silenced lines.The results indicate that knockdown of Gh ABC1K2-A05 and Gh ABC1K12-A07 make cotton more sensitive to salt and PEG stress.These findings can provide valuable information for intensive studies of Gh ABC1Ks in the responses and resistance of cotton to abiotic stresses. 展开更多
关键词 COTTON ABC1K abiotic stress responses expression patterns virus-induced gene silencing(VIGS)
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Predictive model using four ferroptosis-related genes accurately predicts gastric cancer prognosis 被引量:1
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作者 Li Wang Wei-Hua Gong 《World Journal of Gastrointestinal Oncology》 SCIE 2024年第5期2018-2037,共20页
BACKGROUND Gastric cancer(GC)is a common malignancy of the digestive system.According to global 2018 cancer data,GC has the fifth-highest incidence and the thirdhighest fatality rate among malignant tumors.More than 6... BACKGROUND Gastric cancer(GC)is a common malignancy of the digestive system.According to global 2018 cancer data,GC has the fifth-highest incidence and the thirdhighest fatality rate among malignant tumors.More than 60%of GC are linked to infection with Helicobacter pylori(H.pylori),a gram-negative,active,microaerophilic,and helical bacterium.This parasite induces GC by producing toxic factors,such as cytotoxin-related gene A,vacuolar cytotoxin A,and outer membrane proteins.Ferroptosis,or iron-dependent programmed cell death,has been linked to GC,although there has been little research on the link between H.pylori infection-related GC and ferroptosis.AIM To identify coregulated differentially expressed genes among ferroptosis-related genes(FRGs)in GC patients and develop a ferroptosis-related prognostic model with discrimination ability.METHODS Gene expression profiles of GC patients and those with H.pylori-associated GC were obtained from The Cancer Genome Atlas and Gene Expression Omnibus(GEO)databases.The FRGs were acquired from the FerrDb database.A ferroptosis-related gene prognostic index(FRGPI)was created using least absolute shrinkage and selection operator–Cox regression.The predictive ability of the FRGPI was validated in the GEO cohort.Finally,we verified the expression of the hub genes and the activity of the ferroptosis inducer FIN56 in GC cell lines and tissues.RESULTS Four hub genes were identified(NOX4,MTCH1,GABARAPL2,and SLC2A3)and shown to accurately predict GC and H.pylori-associated GC.The FRGPI based on the hub genes could independently predict GC patient survival;GC patients in the high-risk group had considerably worse overall survival than did those in the low-risk group.The FRGPI was a significant predictor of GC prognosis and was strongly correlated with disease progression.Moreover,the gene expression levels of common immune checkpoint proteins dramatically increased in the highrisk subgroup of the FRGPI cohort.The hub genes were also confirmed to be highly overexpressed in GC cell lines and tissues and were found to be primarily localized at the cell membrane.The ferroptosis inducer FIN56 inhibited GC cell proliferation in a dose-dependent manner.CONCLUSION In this study,we developed a predictive model based on four FRGs that can accurately predict the prognosis of GC patients and the efficacy of immunotherapy in this population. 展开更多
关键词 Ferroptosis Gastric cancer Helicobacter pylori infection Immune checkpoint protein Prognostic model Ferroptosis-related gene prognostic index
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Mental retardation,seizures and language delay caused by new SETD1B mutations:Three case reports
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作者 Le Ding Li-Wan Wei +1 位作者 Tai-Song Li Jing Chen 《World Journal of Clinical Cases》 SCIE 2024年第2期383-391,共9页
BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE S... BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B gene.Three individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were analyzed.This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach.Among the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had epilepsy.Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat delayed.Whole exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(p.Arg1825trp),c.4120C>T(p.Gln1374*,593),c.14_15insC(p.His5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay.Although the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of life.Furthermore,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development. 展开更多
关键词 Neurodevelopmental disorder SEIZURE SETD1B gene Whole-exome sequencing new mutation Case report
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Comprehensive Evaluation of Flower Border Application Value of New and Superior Plants in Hefei Area 被引量:1
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作者 MENG Yi ZHAO Zhiyan +1 位作者 LIANG Tingwu LU Zhaoliang 《Journal of Landscape Research》 2024年第2期69-71,76,共4页
An analytic hierarchy process(AHP)was employed to assess the applicability of 18 new and superior varieties of flowers in Hefei City flower border applications.A total of 12 indicators were selected from three distinc... An analytic hierarchy process(AHP)was employed to assess the applicability of 18 new and superior varieties of flowers in Hefei City flower border applications.A total of 12 indicators were selected from three distinct aspects of adaptability,ornamental characteristics and use traits,in order to establish a comprehensive evaluation model.The results demonstrate that grade I(J≥2.685)exhibits excellent application value,encompassing six species of plants,such asHydrangeamacrophylla‘Endless Summer’;grade II(2.684≤J≤2.420)is also of notable application value,encompassing five species of plants,such asCallistemonrigidus;grade III(2.419≤J≤2.615)is of average application value,including five species of plants,such asCrocosmiacrocosmiflora;grade IV(J≤2.16)is of relatively poor application value.The evaluation results may be utilized as a theoretical reference for the promotion of new and superior varieties in the flower border of Hefei. 展开更多
关键词 Analytic hierarchy process(AHP) new and superior variety Application value Comprehensive evaluation
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Key genes and regulatory networks for diabetic retinopathy based on hypoxia-related genes:a bioinformatics analysis
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作者 Cai-Han Yu Cai-Xia Wu +3 位作者 Dai Li Lan-Lan Gong Xu-Dong Lyu Jie Yang 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第8期1411-1417,共7页
AIM:To prevent neovascularization in diabetic retinopathy(DR)patients and partially control disease progression.METHODS:Hypoxia-related differentially expressed genes(DEGs)were identified from the GSE60436 and GSE1024... AIM:To prevent neovascularization in diabetic retinopathy(DR)patients and partially control disease progression.METHODS:Hypoxia-related differentially expressed genes(DEGs)were identified from the GSE60436 and GSE102485 datasets,followed by gene ontology(GO)functional annotation and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment analysis.Potential candidate drugs were screened using the CMap database.Subsequently,a protein-protein interaction(PPI)network was constructed to identify hypoxia-related hub genes.A nomogram was generated using the rms R package,and the correlation of hub genes was analyzed using the Hmisc R package.The clinical significance of hub genes was validated by comparing their expression levels between disease and normal groups and constructing receiver operating characteristic curve(ROC)curves.Finally,a hypoxia-related miRNA-transcription factor(TF)-Hub gene network was constructed using the NetworkAnalyst online tool.RESULTS:Totally 48 hypoxia-related DEGs and screened 10 potential candidate drugs with interaction relationships to upregulated hypoxia-related genes were identified,such as ruxolitinib,meprylcaine,and deferiprone.In addition,8 hub genes were also identified:glycogen phosphorylase muscle associated(PYGM),glyceraldehyde-3-phosphate dehydrogenase spermatogenic(GAPDHS),enolase 3(ENO3),aldolase fructose-bisphosphate C(ALDOC),phosphoglucomutase 2(PGM2),enolase 2(ENO2),phosphoglycerate mutase 2(PGAM2),and 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3(PFKFB3).Based on hub gene predictions,the miRNA-TF-Hub gene network revealed complex interactions between 163 miRNAs,77 TFs,and hub genes.The results of ROC showed that the except for GAPDHS,the area under curve(AUC)values of the other 7 hub genes were greater than 0.758,indicating their favorable diagnostic performance.CONCLUSION:PYGM,GAPDHS,ENO3,ALDOC,PGM2,ENO2,PGAM2,and PFKFB3 are hub genes in DR,and hypoxia-related hub genes exhibited favorable diagnostic performance. 展开更多
关键词 diabetic retinopathy hypoxia-related genes hub genes miRNA-TF-Hub gene drug prediction
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RPLP0/TBP are the most stable reference genes for human dental pulp stem cells under osteogenic differentiation
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作者 Daniel B Ferreira Leticia M Gasparoni +1 位作者 Cristiane F Bronzeri Katiucia B S Paiva 《World Journal of Stem Cells》 SCIE 2024年第6期656-669,共14页
BACKGROUND Validation of the reference gene(RG)stability during experimental analyses is essential for correct quantitative real-time polymerase chain reaction(RT-qPCR)data normalisation.Commonly,in an unreliable way,... BACKGROUND Validation of the reference gene(RG)stability during experimental analyses is essential for correct quantitative real-time polymerase chain reaction(RT-qPCR)data normalisation.Commonly,in an unreliable way,several studies use genes involved in essential cellular functions[glyceraldehyde-3-phosphate dehydro-genase(GAPDH),18S rRNA,andβ-actin]without paying attention to whether they are suitable for such experimental conditions or the reason for choosing such genes.Furthermore,such studies use only one gene when Minimum Information for Publication of Quantitative Real-Time PCR Experiments guidelines recom-mend two or more genes.It impacts the credibility of these studies and causes dis-tortions in the gene expression findings.For tissue engineering,the accuracy of gene expression drives the best experimental or therapeutical approaches.We cultivated DPSCs under two conditions:Undifferentiated and osteogenic dif-ferentiation,both for 35 d.We evaluated the gene expression of 10 candidates for RGs[ribosomal protein,large,P0(RPLP0),TATA-binding protein(TBP),GAPDH,actin beta(ACTB),tubulin(TUB),aminolevulinic acid synthase 1(ALAS1),tyro-sine 3-monooxygenase/tryptophan 5-monooxygenase activation protein,zeta(YWHAZ),eukaryotic translational elongation factor 1 alpha(EF1a),succinate dehydrogenase complex,subunit A,flavoprotein(SDHA),and beta-2-micro-globulin(B2M)]every 7 d(1,7,14,21,28,and 35 d)by RT-qPCR.The data were analysed by the four main algorithms,ΔCt method,geNorm,NormFinder,and BestKeeper and ranked by the RefFinder method.We subdivided the samples into eight subgroups.RESULTS All of the data sets from clonogenic and osteogenic samples were analysed using the RefFinder algorithm.The final ranking showed RPLP0/TBP as the two most stable RGs and TUB/B2M as the two least stable RGs.Either theΔCt method or NormFinder analysis showed TBP/RPLP0 as the two most stable genes.However,geNorm analysis showed RPLP0/EF1αin the first place.These algorithms’two least stable RGs were B2M/GAPDH.For BestKeeper,ALAS1 was ranked as the most stable RG,and SDHA as the least stable RG.The pair RPLP0/TBP was detected in most subgroups as the most stable RGs,following the RefFinfer ranking.CONCLUSION For the first time,we show that RPLP0/TBP are the most stable RGs,whereas TUB/B2M are unstable RGs for long-term osteogenic differentiation of human DPSCs in traditional monolayers. 展开更多
关键词 Dental pulp stem cells Reference gene Housekeeping gene Endogenous gene Osteogenic differentiation RefFinder
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GST family genes in jujube actively respond to phytoplasma infection
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作者 Qipeng Wang Liman Zhang +5 位作者 Chaoling Xue Yao Zhang Xiangrui Meng Zhiguo Liu Mengjun Liu Jin Zhao 《Horticultural Plant Journal》 SCIE CAS CSCD 2024年第1期77-90,共14页
Jujube witches’broom(JWB)caused by phytoplasma has a severely negative effect on multiple metabolisms in jujube.The GST gene family in plants participates in the regulation of a variety of biotic and abiotic stresses... Jujube witches’broom(JWB)caused by phytoplasma has a severely negative effect on multiple metabolisms in jujube.The GST gene family in plants participates in the regulation of a variety of biotic and abiotic stresses.This study aims to identify and reveal the changes in the jujube GST gene family in response to phytoplasma infection.Here,70 ZjGSTs were identified in the jujube genome and divided into 8 classes.Among them,the Tau-class,including 44 genes,was the largest.Phylogenetic analysis indicated that Tau-class genes were highly conserved among species,such as Arabidopsis,cotton,chickpea,and rice.Through chromosome location analysis,37.1%of genes were clustered,and 8 of 9 gene clusters were composed of Tau class members.Through RT-PCR,qRT-PCR and enzyme activity detection,the results showed that the expression of half(20/40)of the tested ZjGSTs was inhibited by phytoplasma infection in field and tissue culture conditions,and GST activity was also significantly reduced.In the resistant and susceptible varieties under phytoplasma infection,ZjGSTU49-ZjGSTU54 in the cluster IV showed opposite expression patterns,which may be due to functional divergence during evolution.Some upregulated genes(ZjGSTU45,ZjGSTU49,ZjGSTU59,and ZjGSTU70)might be involved in the process of jujube against JWB.The yeast two-hybrid results showed that all 6 Tauclass proteins tested could form homodimers or heterodimers.Overall,the comprehensive analysis of the jujube GST gene family revealed that ZjGSTs responded actively to phytoplasma infection.Furthermore,some screened genes(ZjGSTU24,ZjGSTU49-52,ZjGSTU70,and ZjDHAR10)will contribute to further functional studies of jujube-phytoplasma interactions. 展开更多
关键词 Chinese jujube GST gene Family PHYTOPLASMA Gene cluster EXPRESSION Protein interaction
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Endoscopic diagnosis and management of gallbladder carcinoma in minimally invasive era:New needs,new models
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作者 La-Cuo Deqing Jun-Wen Zhang Jian Yang 《World Journal of Gastrointestinal Oncology》 SCIE 2024年第11期4333-4337,共5页
Gallbladder cancer(GBC)is a rare and lethal malignancy;however,it represents the most common type of biliary tract cancer.Patients with GBC are often diagnosed at an advanced stage,thus,unfortunately,losing the opport... Gallbladder cancer(GBC)is a rare and lethal malignancy;however,it represents the most common type of biliary tract cancer.Patients with GBC are often diagnosed at an advanced stage,thus,unfortunately,losing the opportunity for curative surgical intervention.This situation leads to lower quality of life and higher mortality rates.In recent years,the rapid development of endoscopic equipment and techniques has provided new avenues and possibilities for the early and minimally invasive diagnosis and treatment of GBC.This editorial comments on the article by Pavlidis et al.Building upon their work,we explore the new needs and corresponding models for managing GBC from the endoscopic diagnosis and treatment perspective. 展开更多
关键词 ENDOSCOPY Diagnosis and treatment Gallbladder carcinoma Minimal invasive new need new model
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A new diatom genus Spargeria gen.nov.(Bacillariophyceae)from Xizang,China,and the description of two new species
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作者 Yan LIU John Patrick KOCIOLEK +5 位作者 Li WANG Xinxin LU Huan ZHU Guoxiang LIU Fengyang SUI Yawen FAN 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2024年第1期291-303,共13页
During our investigation of diatom biodiversity in Xizang,two species exhibited unique morphological features discriminative from all previously known genera.Herein we describe these two species and describe as new th... During our investigation of diatom biodiversity in Xizang,two species exhibited unique morphological features discriminative from all previously known genera.Herein we describe these two species and describe as new the genus,Spargeria gen.nov.The new genus features narrow to wide rectangular valves,narrow valve mantles,filiform raphe branches that occur on the valve face only,terminal raphe fissures straight or slightly deflected to same side,bow-tie shaped central areas,chambered striae present on the valve face only,being absent from the mantle,wider striae near the axial area and very narrow near the margin,multiseriate striae with small and round areolae that are occluded externally.Comparatively,Spargeria zhuii sp.nov.has larger and robust valves,radiate striae,with one divergent stria near the apices,while Spargeria chenia sp.nov.is smaller,with narrow valves,striae slightly radiate in the middle,becoming convergent or parallel near apices.This new genus belongs to the family Pinnulariaceae,and it was compared and contrasted with other genera of this family.Our work suggests the need for continued studies to document the biodiversity of diatoms in Xizang. 展开更多
关键词 Spargeria new genus Pinnulariaceae morphology Xizang
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