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Gene,genetics and genetic medicines in gastroenterology:Current status and its future
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作者 Ashok Kumar Yajnadatta Sarangi Payal Kaw 《World Journal of Gastroenterology》 2026年第1期37-68,共32页
The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are imm... The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are immunological,and others associated as idiopathic,are undiagnosed by all possible means.Some of the rare diseases are congenital in nature,passing from the parent to the child.Many of the undiagnosed diseases are now being diagnosed as genetic and the genes have been implicated as a causative agent.There is a search for newer treatments for such diseases,which is called genomic medicine.Genomic medicine is an emerging medical discipline that involves the use of genomic information about an individual.This is used both for diagnostic as well as therapeutic decisions to improve the current health domain and pave the way for policymakers for its clinical use.In the developing era of precision medicine,genomics,epigenomics,environmental exposure,and other data would be used to more accurately guide individual diagnosis and treatment.Genomic medicine is already making an impact in the fields of oncology,pharmacology,rare,infectious and many undiagnosed diseases.It is beginning to fuel new approaches in certain medical specialties.Oncology is at the leading edge of incorporating genomics,as diagnostics for genetic and genomic markers are increasingly included in cancer screening,and to guide tailored treatment strategies.Genetics and genetic medicine have been reported to play a role in gastroenterology in several ways,including genetic testing(hereditary pancreatitis and hereditary gastrointestinal cancer syndromes).Genetic testing can also help subtype diseases,such as classifying pancreatitis as idiopathic or hereditary.Gene therapy is a promising approach for treating gastrointestinal diseases that are not effectively treated by conventional pharmaceuticals and surgeries.Gene therapy strategies include gene addition,gene editing,messenger RNA therapy,and gene silencing.Understanding genetic determinants,advances in genetics,have led to a better understanding of the genetic factors that contribute to human disease.Family-member risk stratification and genetic diagnosis can help identify family members who are at risk,which can lead to preventive treatments,lifestyle recommendations,and routine follow ups.Selecting target genes helps identify the gene targets associated with each gastrointestinal disease.Common gastrointestinal diseases associated with genetic abnormalities include-inflammatory bowel disease,gastroesophageal reflux disease,non-alcoholic fatty liver disease,and irritable bowel syndrome.With advancing tools and technology,research in the search of newer and individualized treatment,genes and genetic medicines are expected to play a significant role in human health and gastroenterology. 展开更多
关键词 Genes genetics Clinical genetic testing Germline mutation Somatic mutation Targeted therapy PHARMACOgenetics genetic medicine GASTROENTEROLOGY Gastrointestinal diseases
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Expression quantitative trait loci(eQTL):from population genetics to precision medicine
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作者 Zhi Qi Wong Lian Deng +5 位作者 Alvin Cengnata Thuhairah Abdul Rahman Aletza Mohd Ismail Renee Lay Hong Lim Shuhua Xu Boon-Peng Hoh 《Journal of Genetics and Genomics》 2025年第4期449-459,共11页
Evidence has shown that differential transcriptomic profiles among human populations from diverse ancestries,supporting the role of genetic architecture in regulating gene expression alongside environmental stimuli.Ge... Evidence has shown that differential transcriptomic profiles among human populations from diverse ancestries,supporting the role of genetic architecture in regulating gene expression alongside environmental stimuli.Genetic variants that regulate gene expression,known as expression quantitative trait loci(eQTL),are primarily shaped by human migration history and evolutionary forces,likewise,regulation of gene expression in principle could have been influenced by these events.Therefore,a comprehensive understanding of how human evolution impacts eQTL offers important insights into how phenotypic diversity is shaped.Recent studies,however,suggest that eQTL is enriched in genes that are selectively constrained.Whether eQTL is minimally affected by selective pressures remains an open question and requires comprehensive investigations.In addition,such studies are primarily dominated by the major populations of European ancestry,leaving many marginalized populations underrepresented.These observations indicate there exists a fundamental knowledge gap in the role of genomics variation on phenotypic diversity,which potentially hinders precision medicine.This article aims to revisit the abundance of eQTL across diverse populations and provide an overview of their impact from the population and evolutionary genetics perspective,subsequently discuss their influence on phenomics,as well as challenges and opportunities in the applications to precision medicine. 展开更多
关键词 EQTL TRANSCRIPTOMICS GENOMICS PHENOMICS Population genetics Precisionmedicine
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The genetics of pediatric inflammatory bowel disease:Towards precision medicine
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作者 AHMAD SHAHIR MOHAMAD NAZRI NAZIHAH MOHD YUNUS MARAHAINI MUSA 《BIOCELL》 2025年第1期149-160,共12页
Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of I... Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of IBD commonly occurs during adolescence.Despite the significant number of cases globally(~5 million),the causes of pediatric IBD,which constitutes 25%of IBD patients,are not yet fully understood.Apart from environmental factors,genetic factors contribute to a higher risk of developing IBD.The predisposition risk of IBD can be investigated using genetic testing.Genetic mechanisms of pediatric IBD are highly complex which resulted in difficulty in selecting effective treatment or patient management.Genetic variation of IBD would serve as a basis for precision medicine and allow for the discovery of more robust treatment avenues for this condition in pediatric patients.This review aims to discuss the genetics of pediatric IBD,and current development in the screening,diagnosis,and treatment based on genetic profiling of pediatric IBD subjects toward more personalized management of this disease. 展开更多
关键词 genetics Inflammatory bowel disease Personalized medicine
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Harnessing Exercise for Chronic Kidney Disease: Integrating Molecular Pathways, Epigenetics, and Gene-Environment Interactions
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作者 Kyung-Wan Baek Jinkyung Cho +1 位作者 Ji Hyun Kim Ji-Seok Kim 《BIOCELL》 2025年第8期1339-1362,共24页
Chronic kidney disease(CKD)affects a significant fraction of the global population and is closely associated with elevated cardiovascular risk and poor clinical outcomes.Its pathophysiology entails complex molecular a... Chronic kidney disease(CKD)affects a significant fraction of the global population and is closely associated with elevated cardiovascular risk and poor clinical outcomes.Its pathophysiology entails complex molecular and cellular disturbances,including reduced nitric oxide bioavailability,persistent low-grade inflammation,oxidative stress,endothelial dysfunction,altered mineral metabolism,genetic predispositions,and uremic toxin accumulation.As current pharmacological treatments provide only partial risk reduction,complementary approaches are imperative.Exercise training,both aerobic and resistance,has emerged as a potent non-pharmacological intervention targeting these underlying molecular pathways.Regular exercise can enhance nitric oxide signaling,improve antioxidant defenses,attenuate inflammation,facilitate endothelial repair via endothelial progenitor cells,and stabilize muscle metabolism.Additionally,accumulating evidence points to a genetic dimension in CKD susceptibility and progression.Variants in genes such as APOL1,PKD1,PKD2,UMOD,and COL4A3–5 shape disease onset and severity,and may modulate response to interventions.Exercise may help buffer these genetic risks by inducing epigenetic changes,improving mitochondrial function,and optimizing crosstalk between muscle,adipose tissue,and the vasculature.This review synthesizes how exercise training can ameliorate key molecular mediators in CKD,emphasizing the interplay with genetic and epigenetic factors.We integrate evidence from clinical and experimental studies,discussing how personalized exercise prescriptions,informed by patients’genetic backgrounds and nutritional strategies(such as adequate protein intake),could enhance outcomes.Although large-scale trials linking molecular adaptations to long-term endpoints are needed,current knowledge strongly supports incorporating exercise as a cornerstone in CKD management to counteract pervasive molecular derangements and leverage genetic insights for individualized care. 展开更多
关键词 Chronic kidney disease EXERCISE genetics molecular pathways
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Population Genetics Study of Saccostrea malabonensis(Bivalvia:Ostreidae)in Hainan Island
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作者 XIE Dansheng LI Fengping +8 位作者 LIU Mingjie HENG Xin FAN Likai GUO Xingchen DONG Qingqiu AN Qianying WANG Aimin LIU Chunsheng YANG Yi 《Journal of Ocean University of China》 2025年第6期1728-1736,共9页
Hainan Island is one of the largest islands in China and is located in the Indo-Burma biodiversity hotspot region.Despite its ecological significance,comprehensive population genetic studies of key marine organisms al... Hainan Island is one of the largest islands in China and is located in the Indo-Burma biodiversity hotspot region.Despite its ecological significance,comprehensive population genetic studies of key marine organisms along the entire coastline of Hainan Island have not been reported.This study examined the genetic diversity and population structure of the widely distributed oyster Saccostrea malabonensis around Hainan Island with analyzing mitochondrial COI gene sequences.The impacts of geographical,environmental and anthropogenic factors on genetic differentiation were also investigated.The results revealed a significant AT bias in the COI gene sequences,with transitions as the main mutation type.A total of 103 variable sites and 107 haplotypes were identified from480 COI sequences,with haplotype diversities from 0.067 to 0.782,and nucleotide diversities between 0.00011 and 0.00278.AMOVA analysis indicated that 86.65%of the variation occurred within one population while 13.35%among different populations.The average genetic distance across 16 populations was 0.00169,and the average genetic differentiation index was 0.13353.Distinct population patterns can be observed.The populations of Tonghai Village(THV)and Gangmen Mountain(GMM)in Lingshui showed similar genetic structures while those of Wanquan River Estuary(WQRE,Qionghai)and Wuzhizhou Island(WZZI,Sanya)displayed divergent evolutionary trends.Cluster analysis grouped the 480 individuals of S.malabonensis into six subpopulations.These findings are helpful for developing conservation strategies and genetic breeding programs,and are also helpful for understanding the evolutionary history of this oyster species in Hainan Island. 展开更多
关键词 Hainan Island OYSTER Saccostrea malabonensis genetic diversity COI
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Development of an improved reverse genetics system for avian metapneumovirus(aMPV):A novel vaccine vector protects against aMPV and infectious bursal disease virus
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作者 Lingzhai Meng Yuntong Chen +14 位作者 Mengmeng Yu Peng Liu Xiaole Qi Xiaoxiao Xue Ru Guo Tao Zhang Mingxue Hu Wenrui Fan Ying Wang Suyan Wang Yanping Zhang Yongzhen Liu Yulu Duan Hongyu Cui Yulong Gao 《Journal of Integrative Agriculture》 2025年第5期1972-1986,共15页
Avian metapneumovirus(aMPV),a paramyxovirus,causes acute respiratory diseases in turkeys and swollen head syndrome in chickens.This study established a reverse genetics system for aMPV subtype B LN16-A strain based on... Avian metapneumovirus(aMPV),a paramyxovirus,causes acute respiratory diseases in turkeys and swollen head syndrome in chickens.This study established a reverse genetics system for aMPV subtype B LN16-A strain based on T7 RNA polymerase.Full-length cDNA of the LN16-A strain was constructed by assembling 5 cDNA fragments between the T7 promoter and hepatitis delta virus ribozyme.Transfection of this plasmid,along with the supporting plasmids encoding the N,P,M2-1,and L proteins of LN16-A into BSR-T7/5 cells,resulted in the recovery of aMPV subtype B.To identify an effective insertion site,the enhanced green fluorescent protein(EGFP)gene was inserted into different sites of the LN16-A genome to generate recombinant LN16-As.The results showed that the expression levels of EGFP at the site between the G and L genes of LN16-A were significantly higher than those at the other two sites(between the leader and N genes or replacing the SH gene).To verify the availability of the site between G and L for foreign gene expression,the VP2 gene of very virulent infectious bursal disease virus(vvIBDV)was inserted into this site,and recombinant LN16-A(rLN16A-vvVP2)was successfully rescued.Single immunization of specificpathogen-free chickens with rLN16A-vvVP2 induced high levels of neutralizing antibodies and provided 100%protection against the virulent aMPV subtype B and vvIBDV.Establishing a reverse genetics system here provides an important foundation for understanding aMPV pathogenesis and developing novel vector vaccines. 展开更多
关键词 avian metapneumovirus reverse genetics system insertion site PROTECTION vector vaccines
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Lynch syndrome and colorectal cancer:A review of current perspectives in molecular genetics and clinical strategies
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作者 RAQUEL GÓMEZ-MOLINA RAQUEL MARTÍNEZ +3 位作者 MIGUEL SUÁREZ ANA PEÑA-CABIA MARÍA CONCEPCIÓN CALDERÓN JORGE MATEO 《Oncology Research》 2025年第7期1531-1545,共15页
Lynch syndrome(LS),also known as hereditary non-polyposis colorectal cancer(HNPCC),is an inherited condition associated with a higher risk of colorectal cancer(CRC)and other cancers.It is caused by germline mutations ... Lynch syndrome(LS),also known as hereditary non-polyposis colorectal cancer(HNPCC),is an inherited condition associated with a higher risk of colorectal cancer(CRC)and other cancers.It is caused by germline mutations in DNA mismatch repair(MMR)genes,including MLH1,MSH2,MSH6 and PMS2.These mutations lead to microsatellite instability(MSI)and defective DNA repair mechanisms,resulting in increased cancer risk.Early detection of LS is crucial for effective management and cancer prevention.Endoscopic surveillance,particularly regular colonoscopy,is recommended for individuals with LS to detect CRC at early stages.Additionally,universal screening of CRC for MMR deficiency can help identify at-risk individuals.Genetic counseling plays a valuable role in LS by guiding patients and their families in understanding the genetic basis,making informed decisions regarding surveillance and prevention,and offering reproductive options to reduce the transmission of pathogenic variants of the offspring.The aim of this review is to outline current strategies for the diagnosis,surveillance,and management of LS,with a focus on the role of genetic counseling,endoscopic screening,and emerging therapeutic approaches to mitigate cancer risk in affected individuals. 展开更多
关键词 Lynch Syndrome(LS) Colorectal Cancer(CRC) Hereditary Nonpolyposis Colorectal Cancer(HNPCC) genetic testing DNA Mismatch Repair(MMR) ENDOSCOPY COLONOSCOPY genetic counseling
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A Study on the Applicability of Laws and Regulation in Genetics and Its Influence in Papua New Guinea
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作者 Alfred P.Minei Sam O.Kaipu 《Psychology Research》 2025年第3期83-117,共35页
Information about whether genetic information requires special treatment in law varies around the world and many aspects are not clear.In this study,we draw upon knowledge gained from various disciplines,such as genet... Information about whether genetic information requires special treatment in law varies around the world and many aspects are not clear.In this study,we draw upon knowledge gained from various disciplines,such as genetics,medicine,law,philosophy,psychology,sociology,anthropology,insurance,and economics,which have all contributed to the study of genetic information,and discrimination based on genetic traits.With this in mind,we are able to set this research study into perspective.We make no claim on behalf of any field of study.Nevertheless,we say the development in the field of genetics is in its infancy and that knowledge of an individual genome would be essential not only for counseling but could also be used for stigmatization and discrimination.The purpose of the study is to help provide useful links concerning legal and ethical issues in human genetics and particularly where it deals with the laws,regulations,and policies concerning genetic information.We deal with the legal and ethical aspects in human genetics that influence genetic information.We examine government policies and the existing legislation in Papua New Guinea(PNG)that deal with genetic information and analyze discrimination cases due to genetic traits and describe its magnitude in PNG.This study places importance on the examination of qualitative data collected by a questionnaire survey from individual subjects representing various organizations in PNG including Department of Health,Insurance companies,General Federation of Employers’Associations,Trade Unions,and professional workers such as lawyers,District Court magistrates,medical doctors,healthcare workers,students,and private individuals.The study was conducted in towns in PNG although the majority of the participants live in the National Capital District.A sample of individuals(patients)were enrolled in a cross-sectional questionnaire survey.Individual information was obtained to describe the situation of the area.However,this study did not use administrative records based on health information from the Department of Health which describes the prevalence of genetically disordered individuals.All selected individuals or subjects were interviewed or completed a questionnaire.The data were assessed to characterize the study subsets.The findings of this study are made available to clinical practice in law,medical and public health,and private and public institutions including insurance companies,employers’federation,mining companies,and workers’unions in PNG,and academics and researchers.Educational programs on the basic principles of genetics,ethics,and law in relation to insurance will have to be developed to improve the knowledge of insurance,medical,and the cost of long-term care. 展开更多
关键词 genetic traits DISCRIMINATION laws and regulations Papua New Guinea
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Genetic intersection of human leukocyte antigen-DP/DQ and hepatitis B virus
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作者 Jin-Wei Zhang 《World Journal of Gastroenterology》 2025年第16期101-103,共3页
Hepatitis B virus infection remains a significant global health challenge,particularly in endemic regions like Vietnam.This article examines the groundbreaking study by Nguyen et al,which investigates the relationship... Hepatitis B virus infection remains a significant global health challenge,particularly in endemic regions like Vietnam.This article examines the groundbreaking study by Nguyen et al,which investigates the relationship between human leukocyte antigen-DP/DQ polymorphisms and hepatitis B virus-related liver disease progression.Through advanced multi-clustering analysis,the study reveals that the A-A-A haplotype(rs2856718-rs3077-rs9277535)provides protection against disease progression,while the G-G-G haplotype correlates with increased hepatocellular carcinoma susceptibility.The integration of machine learning approaches with genetic data offers promising avenues for refined disease prediction and personalized therapeutic strategies.This article discusses the implications for expanding study populations,implementing longitudinal cohort studies,and leveraging artificial intelligence for improved patient outcomes. 展开更多
关键词 Human leukocyte antigen Hepatitis B virus Hepatocellular carcinoma CIRRHOSIS Single nucleotide polymorphism Multi-clustering analysis VIETNAM
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福建省农业科学院茶树育种团队牵头在Nature Genetics上发表茶树群体遗传学重要研究性论文
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《茶叶学报》 2025年第2期F0002-F0002,共1页
2025年3月17日,国际顶级学术期刊《自然·遗传学》(Nature Genetics)刊发题为“Genomic analysis of 1325 Camellia accessions sheds light on agronomic and metabolic traits for tea plant improvement”的研究性论文。该研究... 2025年3月17日,国际顶级学术期刊《自然·遗传学》(Nature Genetics)刊发题为“Genomic analysis of 1325 Camellia accessions sheds light on agronomic and metabolic traits for tea plant improvement”的研究性论文。该研究由福建省农业科学院茶叶研究所与中国农业科学院农业基因组研究所等多家单位合作完成。本研究通过对茶树及其近缘种的基因组进行深度重测序,构建了全面的茶树基因组遗传变异图谱,进而揭示了茶树的遗传多样性及其驯化状态。其结果为茶树的遗传进化和精准设计育种提供了有益见解以及重要参考资料。 展开更多
关键词 茶树 Nature genetics 基因组分析 遗传变异图谱
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Research advances in intramuscular fat deposition and chicken meat quality:genetics and nutrition
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作者 Jianlou Song Zengpeng Lv Yuming Guo 《Journal of Animal Science and Biotechnology》 2025年第5期1921-1965,共45页
Chicken meat quality directly influences consumer acceptability and is crucial for the economic success of the poultry industry.Genetics and nutrition are key determinants of the meat quality traits in broilers.This r... Chicken meat quality directly influences consumer acceptability and is crucial for the economic success of the poultry industry.Genetics and nutrition are key determinants of the meat quality traits in broilers.This review summarizes the research advances in this field,with a focus on the genetic and nutritional foundations that regulate intramuscular fat(IMF)deposition and meat quality in chickens over the past decade.The effects of embryonic nutrition,both maternal nutrition and in ovo feeding(IOF),on skeletal muscle development,the IMF content,and meat quality traits in broilers are also discussed.In genetics,single-cell RNA sequencing revealed that de novo lipogenesis predominantly occurs in myocytes,which is key to the formation of IMF in chicken muscle tissue.Fatty acid synthase(FASN)is the key enzyme involved in this process.This discovery has reshaped the traditional understanding of intramuscular lipid metabolism in poultry.Key genes,proteins,and pathways,such as FASN,FABP4,PPARG,C/EBPα,SLC27A1;LPL,APOA1,COL1A1;PPAR and ECM–receptor interactions signaling,have been identified to regulate IMF content and distribution by modulating fatty acid metabolism and adipogenesis.LncHLFF was innovatively found to promote ectopic IMF deposition in chickens via exosome-mediated mechanisms without affecting abdominal fat deposition.MiR-27b-3p and miR-128-3p were found to inhibit adipogenic differentiation by targeting PPARG,thereby affecting IMF formation.In nutrition,nutrigenomics research has shown that fructose enhances IMF deposition by activating ChREBP,providing new targets for nutritional interventions.Adjusting dietary components,including energy,protein,amino acids,fatty acids,and phytochemicals(e.g.,rutin),has been shown to significantly improve meat quality in broilers.Maternal nutrition(e.g.,intake of energy,amino acids,vitamins,and trace elements)and IOF(e.g.,N-carbamylglutamate)have also been confirmed to significantly impact offspring meat quality,opening new avenues for improving embryonic nutrition.Based on these significant advancements,this review proposes strategies that integrate genetic and nutritional approaches.These strategies aim to modulate the differentiation fate of paraxial mesenchymal stem cells toward myogenic or adipogenic lineages and the interaction between muscle and adipose tissues.These insights would help to improve meat quality while ensuring the growth performance of broiler chickens. 展开更多
关键词 Chicken meat quality Embryonic nutrition genetic regulation Intramuscular fat Nutritional intervention
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PID Steering Control Method of Agricultural Robot Based on Fusion of Particle Swarm Optimization and Genetic Algorithm
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作者 ZHAO Longlian ZHANG Jiachuang +2 位作者 LI Mei DONG Zhicheng LI Junhui 《农业机械学报》 北大核心 2026年第1期358-367,共10页
Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion... Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion algorithm took advantage of the fast optimization ability of PSO to optimize the population screening link of GA.The Simulink simulation results showed that the convergence of the fitness function of the fusion algorithm was accelerated,the system response adjustment time was reduced,and the overshoot was almost zero.Then the algorithm was applied to the steering test of agricultural robot in various scenes.After modeling the steering system of agricultural robot,the steering test results in the unloaded suspended state showed that the PID control based on fusion algorithm reduced the rise time,response adjustment time and overshoot of the system,and improved the response speed and stability of the system,compared with the artificial trial and error PID control and the PID control based on GA.The actual road steering test results showed that the PID control response rise time based on the fusion algorithm was the shortest,about 4.43 s.When the target pulse number was set to 100,the actual mean value in the steady-state regulation stage was about 102.9,which was the closest to the target value among the three control methods,and the overshoot was reduced at the same time.The steering test results under various scene states showed that the PID control based on the proposed fusion algorithm had good anti-interference ability,it can adapt to the changes of environment and load and improve the performance of the control system.It was effective in the steering control of agricultural robot.This method can provide a reference for the precise steering control of other robots. 展开更多
关键词 agricultural robot steering PID control particle swarm optimization algorithm genetic algorithm
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The Efficacy and Safety of B-Cell Maturation Antigen(BCMA)Antibody-Drug Conjugates(ADC)in Development against Cancer:A Systematic Review
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作者 Jing Shan Catherine King +1 位作者 Harunor Rashid Veysel Kayser 《Oncology Research》 2026年第1期1-22,共22页
Objectives:B-cell maturation antigen(BCMA)-targeted antibody–drug conjugates(ADCs)have emerged as promising therapies for relapsed/refractory multiple myeloma(RRMM),but the overall efficacy and safety profile is uncl... Objectives:B-cell maturation antigen(BCMA)-targeted antibody–drug conjugates(ADCs)have emerged as promising therapies for relapsed/refractory multiple myeloma(RRMM),but the overall efficacy and safety profile is unclear.This study aimed to synthesize the available evidence on the safety and efficacy of BCMA-ADCs in development for RRMM.Methods:A systematic search was conducted using six bibliographic databases and ClinicalTrials.gov up to November 2024.Studies were eligible if they were human clinical trials or animal studies evaluating BCMA-ADCs and reported efficacy and safety outcomes.Data extraction and quality assessments were conducted using validated tools,including ROBINS-I and SYRCLE’s risk of bias tool.Results:A total of 21 studies were included:16 clinical trials and five animal studies.Key findings included that belantamab mafodotin demonstrated variable but generally durable response rates(32%–85%)and a broad range of progression-free survival(PFS)(2.8–36.6 months),albeit with ocular toxicities in 51%–96%.Among newer candidates,MEDI2228 showed median PFS 5.1–6.6 months with 14%discontinuation for ocular symptoms,while AMG 224 had an overall response rate(ORR)of 23%(9/40)with anemia 21%,thrombocytopenia 24%,and ocular adverse events(AEs)21%.Animal studies supported the tumor-eradicating potential of all BCMA-ADC candidates,although safety signals such as hepatic and renal toxicity were noted with HDP-101.The risk of bias assessment revealed generally moderate to serious concerns in human trials,while the overall quality of the animal studies was acceptable.Conclusions:BCMA-targeted ADC candidates show encouraging efficacy in RRMM,particularly belantamab mafodotin.However,frequent AEs,especially ocular and hematologic toxicities,underscore the need for optimization in ADC design.Further research should prioritize enhancing safety while maintaining clinical benefit. 展开更多
关键词 B-cell maturation antigen antibody drug conjugates multiple myeloma belantamab mafodotin ocular toxicity clinical trials
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Preformed vs de novo anti-human leukocyte antigens-DQ antibodies in kidney transplantation:A retrospective study
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作者 Oumaima Guissouss Khalid Achiaou +7 位作者 Joumana El Turk Asmaa Mourachid Abdelhadi Cheggali Ghislaine Medkouri Benyounes Ramdani Mohammed Benghanem Gharbi Majda Taoudi Benchekroun Siham Bennani 《World Journal of Transplantation》 2026年第1期203-212,共10页
BACKGROUND Donor-specific antibodies(DSAs)against human leukocyte antigen(HLA)-DQ are increasingly recognized as major contributors to antibody-mediated rejection(AMR)and graft failure in kidney transplantation.Howeve... BACKGROUND Donor-specific antibodies(DSAs)against human leukocyte antigen(HLA)-DQ are increasingly recognized as major contributors to antibody-mediated rejection(AMR)and graft failure in kidney transplantation.However,their clinical impact remains understudied in Morocco.AIM To evaluate the presence and implications of anti-HLA-DQ DSAs in Moroccan kidney transplant recipients.METHODS We retrospectively analyzed the immunological profiles and clinical outcomes of kidney transplant recipients screened for anti-HLA antibodies between 2015 and 2020,who developed anti-HLA-DQ DSAs either before or after transplantation.Anti-HLA antibodies were identified using Luminex®single antigen bead technology,and clinical follow-up included graft function assessment,biopsy interpretation,and evaluation of immunosuppression.RESULTS In the pre-transplant group(n=6 with confirmed donor typing),patients with low to moderate median fluorescence intensity(MFI)anti-HLA-DQ DSAs(MFI 561-1581)underwent successful transplantation and maintained stable graft function under optimized immunosuppression.In contrast,in the post-transplant group(n=6 with confirmed donor typing),the emergence of de novo anti-HLA-DQ DSAs was consistently associated with AMR,with MFI values reaching up to 19473,with biopsy-proven AMR in 5 of 6 cases and suspicion of AMR in 1 case.Two representative cases are detailed to illustrate the clinical impact of DQ DSAs:one patient developed high-level anti-DQB1*02 de novo DSA(MFI 12029)with persistent AMR after 5 years,while another developed anti-DQA1*05:01 de novo DSA after an early AMR episode but maintained stable graft function after 5 years(creatinine 1.48 mg/dL).CONCLUSION Our findings underscore the clinical significance of anti-HLA-DQ DSAs in Moroccan kidney transplant recipients.While preformed DSAs with low immunogenicity may permit successful transplantation,de novo DSAs strongly correlate with AMR.Proactive monitoring,including routine DSA screening and HLA-DQ typing,could improve graft outcomes by enabling early intervention and better donor selection. 展开更多
关键词 Kidney transplantation Donor-specific antibodies De novo donor-specific antibodie Human leukocyte antigens DQ Antibody-mediated rejection Banff classification Morocco
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Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population:A prospective single center study
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作者 Tibor Tóth Renáta Bor +10 位作者 Dóra Nagy Dóra Török Tamás Molnár Klaudia Farkas Anna Fábián Zsófia Bősze Anita Bálint Péter Bacsur Tamás Resál Marta Szell Zoltán Szepes 《World Journal of Gastroenterology》 2026年第1期158-170,共13页
BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to th... BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to the Hungarian population.METHODS This prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP(aFAP).Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes.To identify larger deletions and insertions,a multiplex amplifiable probe hybridization technique was used.The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.RESULTS A total of 26 index patients with clinically suspected FAP(n=21)and aFAP(n=5)were enrolled.APC gene alterations were confirmed in 92.31%of the cases(region 1B deletion,n=2;whole-gene deletion,n=4;frameshift mutation,n=2;nonsense mutation,n=5,and splice mutation,n=1),with the remaining two cases having CHEK2 and MSH3 gene alterations.According to pathogenicity,21 cases had pathogenic mutations,6 cases had likely pathogenic mutations,and 16 cases had variants of unknown significance(VUS).The most frequent of the latter were the POLE(n=5)and PIEZO1(n=4)gene variants.CONCLUSION Germline mutations in the APC gene were confirmed in more than 90%of Hungarian patients with clinically suspected FAP.Although the role of VUS genes is unclear,they are highly likely to play a role in the development of CRC. 展开更多
关键词 Polyposis syndrome GENOMICS Familial adenomatous polyposis genetic testing APC Germline mutation Colorectal cancer
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A Preliminary Study on Conservation Genetics of Three Endangered Orchid Species 被引量:16
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作者 李昂 罗毅波 +1 位作者 熊治廷 葛颂 《Acta Botanica Sinica》 CSCD 2002年第2期250-252,共3页
采用随机扩增多态DNA(RAPD)分析研究了中国 3种珍稀濒危兰科植物硬叶兜兰 (PaphiopedilummicranthumTangetWang)、麻栗坡兜兰 (P .malipoenseS .C .ChenetTsi)和独花兰 (ChangnieniaamoenaChien)的遗传多样性与群体遗传结构。 12个RAPD... 采用随机扩增多态DNA(RAPD)分析研究了中国 3种珍稀濒危兰科植物硬叶兜兰 (PaphiopedilummicranthumTangetWang)、麻栗坡兜兰 (P .malipoenseS .C .ChenetTsi)和独花兰 (ChangnieniaamoenaChien)的遗传多样性与群体遗传结构。 12个RAPD引物在 2种兜兰中共扩增出 131条带。对 4个硬叶兜兰群体的检测表明其物种水平的多态条带百分率 (PPB)为 71.6 % ,Nei的基因多样度 (h)为 0 .2 171,Shannon多样性指数 (I)为 0 .330 1;4个群体的平均多样性水平为PPB =45 .2 % ,h =0 .145 7,I =0 .2 2 0 4,低于远交兰花的平均水平。在总遗传变异中 ,群体间遗传变异占 2 0 .31% ,略高于远交物种的平均水平。在物种水平上 ,麻栗坡兜兰的PPB为 49.5 % ,h为 0 .1174,I为0 .176 4,均大大低于硬叶兜兰。对 11个独花兰群体采用 16个RAPD引物共扩增出 119条带。物种水平PPB =76 .5 % ,h =0 .1941,I=0 .30 5 8;在群体水平上 ,上述 3个指标的平均值则分别为 37.2 %、0 .1197和 0 .1810 ,均低于远交兰花的平均水平。群体间的遗传变异占 45 .2 7% ,遗传分化明显高于远交物种的平均水平。导致 3个物种遗传多样性偏低而群体间遗传分化较高的主要原因在于人为的过度采挖和生境的片断化。 展开更多
关键词 PAPHIOPEDILUM Changnienia amoena RAPDS conservation genetics
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A Preliminary Study on Conservation Genetics of Endangered Vatica guangxiensis (Dipterocarpaceae) 被引量:10
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作者 李巧明 许再富 何田华 《Acta Botanica Sinica》 CSCD 2002年第2期246-249,共4页
运用 2 0个 10碱基随机引物 ,对中国龙脑香科 (Dipterocarpaceae)特有的珍稀濒危植物版纳青梅 (VaticaguangxiensisX .L .Mo)进行了RAPD多态性分析。 3个自然居群和 1个迁地保护居群 (分布于云南和广西 )共扩增出2 31个位点 ,多态位点... 运用 2 0个 10碱基随机引物 ,对中国龙脑香科 (Dipterocarpaceae)特有的珍稀濒危植物版纳青梅 (VaticaguangxiensisX .L .Mo)进行了RAPD多态性分析。 3个自然居群和 1个迁地保护居群 (分布于云南和广西 )共扩增出2 31个位点 ,多态位点所占比例 (PPB)为 5 3.6 8% ;观察等位基因数na =1.5 36 8,有效等位基因数ne =1.2 878,Nei基因多样性指数h为 0 .16 86 ,居群内的遗传多样性水平较低。基于AMOVA和POPGENE的结果均表明居群内的遗传变异大于居群间的遗传变异。居群内的遗传变异为 5 5 .0 9% ,居群间的变异为 44 .91% (AMOVA) ;基因分化系数Gst为 0 .3746 (POPGENE) ,表明居群间存在高水平的遗传分化。研究结果对该濒危植物的保护有重要意义。考虑到低水平的遗传多样性和高水平的居群分化 ,通过居群间种子和幼苗的交换来促进基因流是可行的保护方案。迁地保护居群 (ML)不具最高的遗传多样性 ,表明为了保护此濒危物种的全部遗传变异 。 展开更多
关键词 Vatica guangxiensis RAPD genetic diversity conservation biology
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Compound Genetics Annealing Optimal Algorithm for Realization of Locus Deduction of a Plane Link 被引量:1
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作者 林晓通 林晓辉 +1 位作者 黄卫 王宁生 《Journal of Southeast University(English Edition)》 EI CAS 2002年第4期310-314,共5页
A compound algorithm of genetic annealing is designed for optimizing the luffing mechanism locus of a plane link by means of random optimal algorithm, genetic and annealing algorithm. The computing experiment shows th... A compound algorithm of genetic annealing is designed for optimizing the luffing mechanism locus of a plane link by means of random optimal algorithm, genetic and annealing algorithm. The computing experiment shows that the algorithm has much better steady convergence performance of optimal process and can hunt out the global optimal solution by biggish probability for objective function of multi peak value. 展开更多
关键词 genetic annealing algorithm luffing mechanism optimal algorithm
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Study on the Acute Toxicity and Genetics Toxicity of Bensulfuronk-methyl on Danio rerio 被引量:11
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作者 姜罡丞 《Agricultural Science & Technology》 CAS 2009年第4期128-131,共4页
[Objective] The aim was to study the effect of bensulfuron-methyl herbicide on acute toxicity and genetics toxicity of Danio redo. [ Method] Median lethal concentration was calculated by acute toxicity test, and analy... [Objective] The aim was to study the effect of bensulfuron-methyl herbicide on acute toxicity and genetics toxicity of Danio redo. [ Method] Median lethal concentration was calculated by acute toxicity test, and analyzing the herbicide whether existing in potential toxicity to aquatic organisms or not. Based on the study of acute toxicity, genetics toxicity was carried out, by calculating the micronucleus rate to judge bensulfuron-methyl herbicide whether existing in potential toxicity or not. [ Result ] The LD5o (24 h and 48 h) of bensulfuron-methyl herbicide are 0.698 ml/L and 0.637 ml/L respectively, the safe concentration was 0.159 ml/L. The results on the effects of micronucleus (MN) in erythrocytes of Danio redo induced by bensulfuron-methyl at different times and different concentrations showed that the MN rate of control group was 0.010 3%, the highest MN rate of experimental group reached to 0. 372%, it also indicated that bensulfuron-methyl herbicide had genetics toxicity to Danio redo. At the same detection time, there was dose-effect relationship of MN rate in erythrocytes between treatment and control groups with different concentrations. In the same treatment group, the MN rate in erythrocytes reached to peak value at 24 h, and decreased at 48 h and 72 h with the infection time was prolonged. [ Conclusion ] The study provides some basis for scientifically selecting and reasonably using herbicide. 展开更多
关键词 Danio rerio BENSULFURON-METHYL MICRONUCLEUS Acute toxicity genetics toxicity
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国外遗传学教材“Genetics”一书 简评
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作者 刘丽华 《遗传》 CAS CSCD 北大核心 2004年第1期44-44,共1页
遗传学是生命科学中最富于综合性的中心学科之一,也是现代生命科学发展最为迅速的学科之一。以遗传学为基础发展起来的生物技术正处于浩浩荡荡的新发明浪潮的初期,分子遗传学及生物技术发明创造高潮将要持续到21世纪的很长一段时间,... 遗传学是生命科学中最富于综合性的中心学科之一,也是现代生命科学发展最为迅速的学科之一。以遗传学为基础发展起来的生物技术正处于浩浩荡荡的新发明浪潮的初期,分子遗传学及生物技术发明创造高潮将要持续到21世纪的很长一段时间,并将对医疗、农业、环保等产生革命性的影响。 展开更多
关键词 遗传学 教材 genetics 书评
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