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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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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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POLYMORPHISM OF ANGIOTENSIN CONVERTING ENZYME GENE AND GENETIC SUSCEPTIBILITY TO ASTHMA WITH FAMILIAL AGGREGATION 被引量:2
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作者 高金明 林耀广 +5 位作者 肖毅 徐凯峰 许文兵 朱元珏 马毅 白彦 《Chinese Medical Sciences Journal》 CAS CSCD 2000年第1期24-28,共5页
Angiotensin converting enzyme (ACE) plays a key role in the metabolism of angiotensin Ⅱ (AT Ⅱ) and inactivation of bradykinins and tachykinins, which are potent bronchialconstrictors and mediators of inflammation as... Angiotensin converting enzyme (ACE) plays a key role in the metabolism of angiotensin Ⅱ (AT Ⅱ) and inactivation of bradykinins and tachykinins, which are potent bronchialconstrictors and mediators of inflammation asthma, and ACE is heavily expressed in the lungs. An insertion deletion (D/I) polymorphism of ACE gene has been shown to be associated with levels of ACE. We investigate whether the polymorphism of ACE gene is associated with asthma and bronchial responsiveness. Methods. A case control study was carried out in 50 asthmatics, 7 families with at least 2 asthmatic individuals, and 50 healthy subjects. The insertion/deletion (I/D) polymorphism of ACE gene was amplified by polymerase chain reaction (PCR). Methacholine brocho provocation and pulmonary function tests were performed in all asthmatics. Results. There was an higher gene frequency of DD genotype of ACE gene in asthmatic subjects and families individuals compared with healthy subjects (46%, 53% vs 16%, P<0 05; odd ratio 4 98). Anhigher prevalence of DD genotype of ACE was in patients with bronchial hyperresposiveness (BHR) (67%vs 33%, P<0 05; odd ratio 3 8). Accordingly, the mean values of FEV 1% and FEV 1/FVC were higher in asthmatics carrying non DD alleles than patients with DD genotype (73 78% vs 56 56%, P<0 05; 79 19% vs 69 29%, P<0 05, respectively). Conclusion. These results suggested that DD allele of ACE genotype was significantly involved in genetic susceptibility to asthma. DD genotype of ACE might be a risk factor for the degree of airway obstruction, it could also be implicated in pathogenesis of bronchial hyperresponsiveness. 展开更多
关键词 asthma genetICS POLYMORPHISM angiotensin converting enzyme
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Potential therapeutic targets from genetic and epigenetic approaches for asthma 被引量:2
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作者 Youming Zhang 《World Journal of Translational Medicine》 2016年第1期14-25,共12页
Asthma is a complex disorder characterised by inflammation of airway and symptoms of wheeze and shortness of breath.Allergic asthma,atopic dermatitis and allergic rhinitis are immunoglobulin E(IgE) related diseases.Cu... Asthma is a complex disorder characterised by inflammation of airway and symptoms of wheeze and shortness of breath.Allergic asthma,atopic dermatitis and allergic rhinitis are immunoglobulin E(IgE) related diseases.Current therapies targeting asthma rely on non-specific medication to control airway inflammation and prevent symptoms.Severe asthma remains difficult to treat.Genetic and genomic approaches of asthma and Ig E identified many novel loci underling the disease pathophysiology.Recent epigenetic approaches also revealed the insights of DNA methylation and chromatin modification on histones in asthma and IgE.More than 30 micro RNAs have been identified to have regulating roles in asthma.Understanding the pathways of the novel genetic loci and epigenetic elements in asthma and IgE will provide new therapeutic means for clinical management of the disease in future. 展开更多
关键词 asthma IMMUNOGLOBULIN E GENOME-WIDE association studies EPIgenetICS MicroRNA
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Pathogenetic and prognostic roles of bloodborne fibrocytes in asthma 被引量:2
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作者 Sabrina MATTOLI 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2015年第8期651-660,共10页
Bloodborne fibrocytes are cells mobilized from the bone marrow, which express surface antigens commonly ascribed to hematopoietic progenitors and have phenotypic and functional characteristics similar to those of imma... Bloodborne fibrocytes are cells mobilized from the bone marrow, which express surface antigens commonly ascribed to hematopoietic progenitors and have phenotypic and functional characteristics similar to those of immature mesenchymal cells. They exhibit predominant proinflammatory or profibrotic activities at tissue sites, depending on the host's response to environmental insults and on the characteristics of the cell infiltrate and cytokine milieu. In patients with allergic asthma, fibrocytes egress from the bone marrow and are recruited into the airways after every allergen exposure and during viral infections. Recruited fibrocytes amplify the inflammatory responses driven by T helper type 2 lymphokines and favor viral replication and further inflammation on respiratory virus infections. Persistently elevated blood fibrocyte counts and persisting airway fibrocytosis are present in patients with chronically undertreated or corticosteroid-insensitive asthma, and are linked to an enhanced risk of adverse outcomes because of the major involvement of fibrocytes in the development of structural abnormalities that lead to chronic airflow obstruction in these patients. Consequently, blood fibrocyte count is an emerging biomarker of asthma control and disease progression and its clinical applicability as a new outcome measure deserves further evaluation in large clinical trials. 展开更多
关键词 Airway remodeling asthma BIOMARKER Chronic inflammation FIBROCYTE
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Establishment of a field visualization detection method for multiplex recombinase polymerase amplification combined with CRISPR/Cas12a in genetically modified crops 被引量:2
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作者 YAN Jingying NI Liang +2 位作者 SHEN Xingyu LÜ Bingtao LI Yu 《浙江大学学报(农业与生命科学版)》 北大核心 2025年第3期391-401,共11页
With the approval of more and more genetically modified(GM)crops in our country,GM safety management has become more important.Transgenic detection is a major approach for transgenic safety management.Nevertheless,a c... With the approval of more and more genetically modified(GM)crops in our country,GM safety management has become more important.Transgenic detection is a major approach for transgenic safety management.Nevertheless,a convenient and visual technique with low equipment requirements and high sensitivity for the field detection of GM plants is still lacking.On the basis of the existing recombinase polymerase amplification(RPA)technique,we developed a multiplex RPA(multi-RPA)method that can simultaneously detect three transgenic elements,including the cauliflower mosaic virus 35S gene(CaMV35S)promoter,neomycin phosphotransferaseⅡgene(NptⅡ)and hygromycin B phosphotransferase gene(Hyg),thus improving the detection rate.Moreover,we coupled this multi-RPA technique with the CRISPR/Cas12a reporter system,which enabled the detection results to be clearly observed by naked eyes under ultraviolet(UV)light(254 nm;which could be achieved by a portable UV flashlight),therefore establishing a multi-RPA visual detection technique.Compared with the traditional test strip detection method,this multi-RPA-CRISPR/Cas12a technique has the higher specificity,higher sensitivity,wider application range and lower cost.Compared with other polymerase chain reaction(PCR)techniques,it also has the advantages of low equipment requirements and visualization,making it a potentially feasible method for the field detection of GM plants. 展开更多
关键词 genetically modified crop recombinase polymerase amplification CRISPR/Cas12a field detection
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Diabetes-inducing effects of bronchial asthma
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作者 Mohammed Al-Beltagi Adel Salah Bediwy +2 位作者 Nermin Kamal Saeed Hosameldin A Bediwy Reem Elbeltagi 《World Journal of Diabetes》 SCIE 2025年第1期121-139,共19页
BACKGROUND The relationship between diabetes mellitus(DM)and asthma is complex and can impact disease trajectories.AIM To explore the bidirectional influences between the two conditions on clinical outcomes and diseas... BACKGROUND The relationship between diabetes mellitus(DM)and asthma is complex and can impact disease trajectories.AIM To explore the bidirectional influences between the two conditions on clinical outcomes and disease control.METHODS We systematically reviewed the literature on the relationship between DM and asthma,focusing on their impacts,mechanisms,and therapeutic implications.Various studies were assessed,which investigated the effect of glycemic control on asthma outcomes,lung function,and exacerbations.The study highlighted the role of specific diabetes medications in managing asthma.RESULTS The results showed that poor glycemic control in diabetes can exacerbate asthma,increase hospitalizations,and reduce lung function.Conversely,severe asthma,especially in obese individuals,can complicate diabetes management and make glycemic control more difficult.The diabetes-associated mechanisms,such as inflammation,microangiopathy,and oxidative stress,can exacerbate asthma and decrease lung function.Some diabetes medications exhibit anti-inflammatory effects that show promise in mitigating asthma exacerbations.CONCLUSION The complex interrelationship between diabetes and asthma suggests bidirectional influences that affect disease course and outcomes.Inflammation and microvascular complications associated with diabetes may worsen asthma outcomes,while asthma severity,especially in obese individuals,complicates diabetes control.However,the current research has limitations,and more diverse longitudinal studies are required to establish causal relationships and identify effective treatment strategies for individuals with both conditions. 展开更多
关键词 Diabetes mellitus Bronchial asthma Glycemic control Lung function asthma exacerbation Disease interaction MICROANGIOPATHY
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The genetic basis and improvement of photosynthesis in tomato 被引量:1
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作者 Haiqiang Dong Fangman Li +7 位作者 Xiaoxiao Xuan John Kojo Ahiakpa Jinbao Tao Xingyu Zhang Pingfei Ge Yaru Wang Wenxian Gai Yuyang Zhang 《Horticultural Plant Journal》 2025年第1期69-84,共16页
Photosynthesis is one the most important chemical reaction in plants,and it is the ultimate energy source of any living organisms.The light and dark reactions are two essential phases of photosynthesis.Light reaction ... Photosynthesis is one the most important chemical reaction in plants,and it is the ultimate energy source of any living organisms.The light and dark reactions are two essential phases of photosynthesis.Light reaction harvests light energy to synthesize ATP and NADPH through an electron transport chain,and as well as giving out O_(2);dark reaction fixes CO_(2) into six carbon sugars by utilizing NADPH and energy from ATP.Subsequently,plants convert optical energy into chemical energy for maintaining growth and development through absorbing light energy.Here,firstly,we highlighted the biological importance of photosynthesis,and hormones and metabolites,photosynthetic and regulating enzymes,and signaling components that collectively regulate photosynthesis in tomato.Next,we reviewed the advances in tomato photosynthesis,including two aspects of genetic basis and genetic improvement.Numerous genes regulating tomato photosynthesis are gradually uncovered,and the interaction network among those genes remains to be constructed.Finally,the photosynthesis occurring in fruit of tomato and the relationship between photosynthesis in leaf and fruit were discussed.Leaves and fruits are photosynthate sources and sinks of tomato respectively,and interaction between photosynthesis in leaf and fruit exists.Additionally,future perspectives that needs to be addressed on tomato photosynthesis were proposed. 展开更多
关键词 PHOTOSYNTHESIS TOMATO genetICS IMPROVEMENT LEAF FRUIT
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Genetic diversity and population genetic structure of Paeonia suffruticosa by chloroplast DNA simple sequence repeats(cpSSRs) 被引量:2
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作者 Qi Guo Xian Xue +5 位作者 Duoduo Wang Lixia Zhang Wei Liu Erqiang Wang Xiaoqiang Cui Xiaogai Hou 《Horticultural Plant Journal》 2025年第1期367-376,共10页
Paeonia suffruticosa Andr.is an endemic shrub flower in China with 2n=10.This study used 228 cultivars from four populations,i.e.,Jiangnan,Japan,Northwest,and Zhongyuan,as materials to explore the genetic diversity le... Paeonia suffruticosa Andr.is an endemic shrub flower in China with 2n=10.This study used 228 cultivars from four populations,i.e.,Jiangnan,Japan,Northwest,and Zhongyuan,as materials to explore the genetic diversity levels among different populations of tree peony varieties.The results showed that 34 bands were amplified using five pairs of cp SSR primers,with an average of 6.8 bands per primer pair.The average number of different alleles(N_(a)),effective alleles(N_(e)),Shannon's information index(I),diversity(H),and polymorphic information content(PIC)were 3.600,2.053,0.708,0.433,and 0.388,respectively.The PIC value was between 0.250 and 0.500,indicating a moderate level of polymorphism for the five cp SSR primer pairs.The genetic diversity levels of peony cultivars varied among different populations,with the Northwest population showing relatively lower levels(I=0.590,H=0.289,and PIC=0.263).A total of 52 haplotypes were identified in the four examined populations,and the number of haplotypes per population ranged from 11 to 22.Forty-four private haplotypes were detected across populations,and the Northwest population exhibiting the highest count of private haplotypes with 17.The mean number of effective number of haplotypes(N_(eh)),haplotypic richness(R_(h)),and diversity(H)were 8.351,6.824,and 0.893,respectively.Analysis of molecular variance indicated that genetic variation within tree peony germplasm was greater than that between germplasm resources,and the main variation was found within individuals of peony germplasm.Cluster analysis,principal coordinate analysis,and genetic structure analysis classified tree peonies from different origins into two groups,indicating a certain degree of genetic differentiation among these four tree peony cultivation groups.This study provides a theoretical basis for the exploration,utilization,and conservation of peony germplasm resources,as well as for research on the breeding of excellent varieties. 展开更多
关键词 Paeonia suffruticosa Chloroplast microsatellites(cp SSR) genetic diversity Haplotypes Germplasm resources
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Trends in plant tissue culture and genetic improvement of gerbera 被引量:1
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作者 Manisha Mahanta Saikat Gantait 《Horticultural Plant Journal》 2025年第3期974-988,共15页
Gerbera,a popular commercial cut flower with vibrant and striking colors has gained immense popularity in the floriculture industry.They are widely cultivated in various regions,making them available throughout the ye... Gerbera,a popular commercial cut flower with vibrant and striking colors has gained immense popularity in the floriculture industry.They are widely cultivated in various regions,making them available throughout the year.As a better alternative to conventional propagation methods(via seeds and rhizomes),plant tissue culture serves as way to avail large-scale,uniform,disease-free plantlets for commercial cultivation as well as to develop novel genotypes.In addition,it ensures production of healthy plantlets throughout the year in limited space.Based on the plant tissue culture techniques,the in vitro polyploidization,mutagenesis,and genetic transformation pave a path for creation of variation and eventually enhancing the ornamental traits to address the consumers’preferences and also facilitates in developing stress tolerant lines thereby minimizing the losses during cultivation,maintaining the quality of the flowers.This comprehensive review article presents an overview of the recent advancements on genetic improvement of gerbera via various cutting-edge plant tissue culture-based tools and techniques that contribute in enhancing the quality and efficiency of gerbera cultivation,meeting the demands of the floriculture industry while addressing the challenges of changing environment and resource limitations. 展开更多
关键词 CALLUS Clonal fidelity genetic transformation MICROPROPAGATION Mutation Nanotechnology POLYPLOIDY
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Asthma and stem cell therapy 被引量:1
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作者 Qiong-Hua Chen Jing-Yang Zheng Da-Chun Wang 《World Journal of Stem Cells》 2025年第2期29-41,共13页
The global incidence of asthma,a leading respiratory disorder affecting more than 235 million people,has dramatically increased in recent years.Characterized by chronic airway inflammation and an imbalanced response t... The global incidence of asthma,a leading respiratory disorder affecting more than 235 million people,has dramatically increased in recent years.Characterized by chronic airway inflammation and an imbalanced response to airborne irritants,this chronic condition is associated with elevated levels of inflammatory factors and symptoms such as dyspnea,cough,wheezing,and chest tightness.Conventional asthma therapies,such as corticosteroids,long-actingβ-agonists,and antiinflammatory agents,often evoke diverse adverse reactions and fail to reduce symptoms and hospitalization rates over the long term effectively.These limitations have prompted researchers to explore innovative therapeutic strategies,including stem cell-related interventions,offering hope to those afflicted with this incurable disease.In this review,we describe the characteristics of stem cells and critically assess the potential and challenges of stem cell-based therapies to improve disease management and treatment outcomes for asthma and other diseases. 展开更多
关键词 asthma Stem cell THERAPY Embryonic stem cells Induced pluripotent stem cells Mesenchymal stem cells Adult stem cells
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The collaborative cross mouse for studying the effect of host genetic background on memory impairments due to obesity and diabetes 被引量:1
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作者 Avia Paz Kareem Midlej +2 位作者 Osayd Zohud Iqbal MLone Fuad A.Iraqi 《Animal Models and Experimental Medicine》 2025年第1期126-141,共16页
Background:Over the past few decades,a threefold increase in obesity and type 2 diabetes(T2D)has placed a heavy burden on the health-care system and society.Previous studies have shown correlations between obesity,T2D... Background:Over the past few decades,a threefold increase in obesity and type 2 diabetes(T2D)has placed a heavy burden on the health-care system and society.Previous studies have shown correlations between obesity,T2D,and neurodegenera-tive diseases,including dementia.It is imperative to further understand the relation-ship between obesity,T2D,and cognitive deficits.Methods:This investigation tested and evaluated the cognitive impact of obesity and T2D induced by high-fat diet(HFD)and the effect of the host genetic background on the severity of cognitive decline caused by obesity and T2D in collaborative cross(CC)mice.The CC mice are a genetically diverse panel derived from eight inbred strains.Results:Our findings demonstrated significant variations in the recorded phenotypes across different CC lines compared to the reference mouse line,C57BL/6J.CC037 line exhibited a substantial increase in body weight on HFD,whereas line CC005 ex-hibited differing responses based on sex.Glucose tolerance tests revealed significant variations,with some lines like CC005 showing a marked increase in area under the curve(AUC)values on HFD.Organ weights,including brain,spleen,liver,and kidney,varied significantly among the lines and sexes in response to HFD.Behavioral tests using the Morris water maze indicated that cognitive performance was differentially affected by diet and genetic background.Conclusions:Our study establishes a foundation for future quantitative trait loci map-ping using CC lines and identifying genes underlying the comorbidity of Alzheimer's disease(AD),caused by obesity and T2D.The genetic components may offer new tools for early prediction and prevention. 展开更多
关键词 collaborative cross mouse DIABETES host genetic background memory impairments OBESITY
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Differentiation of genetic diversity and byssal phenotype among wild populations of Mytilus coruscus located at different latitudes
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作者 LIN Yuetong WANG Yuqing +2 位作者 NI Jiyue LI Yifeng LU Xia 《水产学报》 北大核心 2025年第8期109-120,共12页
The mussel is one of the main cultivated species in the world.A significant challenge faced by suspension-cultured mussels is the high incidence of mussel fall-off from cultivation ropes,adversely impacting harvest yi... The mussel is one of the main cultivated species in the world.A significant challenge faced by suspension-cultured mussels is the high incidence of mussel fall-off from cultivation ropes,adversely impacting harvest yields,which have been documented at commercial mussel farms in the United Kingdom,the United States of America,Canada,Spain,New Zealand and China.Byssus is an important attachment structure for marine mussels,and weakness in byssal thread attachment is a major factor leading to mussel detachment from ropes.To investigate the relationship between genetic variability and byssal thread phenotypic characteristics in the hard-shelled mussel(Mytilus coruscus),we collected three wild populations of M.coruscus from different latitudes in the East China Sea,including the Shengsi(SS),Jiaojiang(JJ),and Fuding(FD)populations.The genetic diversity and structure of these populations were investigated using 10 microsatellite loci.The mean observed heterozygosity(Ho)in the SS population was 0.44,higher than the mean Ho values of the JJ(0.40)and FD(0.39)populations.The mean inbreeding coefficients(F_(is))in the SS population was 0.20,lower than the mean F_(is)values of the JJ(0.33)and FD populations(0.40).These results revealed that the SS population exhibited higher genetic diversity compared to the other two populations.The different numbers of private alleles(P_(a))in the three populations,ranging from 10 to 17,suggest that these populations have experienced selective pressures from various environments.Moreover,genetic differentiation was observed in the genetic distance between the SS population and the other two populations.We also examined the phenotypic characteristics of their byssal threads.There were significant differences in byssus attachment strength among the three populations,with the SS population located at the highest latitude secreting more byssal threads and exhibiting greater byssal breaking force and plaque adhesion strength,while the Fuding(FD)population located at the lowest latitude had the weakest byssal attachment.The observed differentiation in private alleles and byssus phenotypes might suggest that the three wild populations have experienced different environmental selective pressures.This study provides insight for future genetic enhancement programs aimed at improving byssus attachment in M.coruscus. 展开更多
关键词 Mytilus coruscus MICROSATELLITE genetic diversity genetic structure byssal phenotype
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Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia:A case report
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作者 Feng Wang Pei-Feng Dai Wen-Juan Gao 《World Journal of Clinical Cases》 SCIE 2025年第10期28-34,共7页
BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,an... BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown. 展开更多
关键词 Cleidocranial dysplasia genetic analysis Ultrasonic diagnosis PRENATAL Case report
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Assessment of Genetic Variability and Inter-Relationship for Yield Attributing Traits in Maize (Zea mays L.) Genotypes in White Nile State, Sudan
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作者 Sara Mohammed Abdalla Khalid Abdalla Osman +1 位作者 Abd Elwahab Abdalla Dafaalla Soheap Abdalrahman Yousif 《Agricultural Sciences》 2025年第2期280-289,共10页
Maize is an important source of calories and protein in human lives in many countries of the world and is the main staple food in Africa, particularly in eastern Africa. In the Sudan, the low yield of maize was mainly... Maize is an important source of calories and protein in human lives in many countries of the world and is the main staple food in Africa, particularly in eastern Africa. In the Sudan, the low yield of maize was mainly due to the use of low yielding landraces. It is necessary to carry out breeding programs that deal with the production of high yielding, adaptable new varieties. Therefore, this study aimed to estimate genetic variability, heritability, genotypic performance and interrelationships among the traits. Ten maize genotypes evaluated at White Nile Research Station Farm, Kosti, of the Agricultural Research Corporation (ARC), Wad Medani Sudan were planted in a randomized complete block design with three replications during the two seasons of 2021 and 2022. Most evaluated genotypes exhibited a wide and significant variation in the 11 measured traits. Genotypic coefficient of variation and genetic advance were recorded for days to 50% tasseling, ear diameter (cm), number of grains per row and grain yield (t/ha) in both seasons. High heritability and genetic advance were recorded for grain yield, ear length, ear height, plant height, number of rows per ear, ear weight, days to 50% tasseling, 100-grain weight and days to 50% silking. Moreover, there was a highly significant and positive correlation of grain yield with number of rows per ear (r = 0.479), ear length (r = 0.381), 100-grain weight (r = 0.344) and days to 50% tasseling (r = 0.214). The highest yielding five genotypes across the seasons were TZCOM1/ZDPSYN (4.2 t/ha), EEPVAH-3 (4.2 t/ha), F2TWLY131228 (4.1 t/ha), PVA SYN6F2 (3.9 t/ha) and EEPVAH-9 (3.8 t/ha) these were needed to check the adaptability, stability and to test major maize growing areas to make sound recommendations for release. 展开更多
关键词 genetic Variability HERITABILITY Correlation MAIZE YIELD
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Genetic Characterization of Balanites aegyptiaca (L.) Del. Populations in the Sahelian Zone of Senegal
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作者 Alimatou Sam Moustapha Bassimbe Sagna +4 位作者 Aly Diallo Eric Sylvain Babdji Ibrahima Mamadou Kebe Mbacke Sembene Aliou Guisse 《American Journal of Plant Sciences》 2025年第2期263-274,共12页
This study evaluated the molecular characterization of different ecotypes of B. aegyptiaca populations in the four sites: Koily alpha, Labgar, Ranérou and Ballou according to the environment with the aim of devel... This study evaluated the molecular characterization of different ecotypes of B. aegyptiaca populations in the four sites: Koily alpha, Labgar, Ranérou and Ballou according to the environment with the aim of developing protection strategies. We sampled leaves of B. aegyptiaca in each individual from each site to extract and amplify a fragment of mitochondrial DNA including cytochrome b and then carefully preserved. DNA extraction, polymerase chain amplification and sequencing of MT-CYB were performed in 64 individuals. Genetic diversity and structure of B. aegyptiaca were determined using the MEGA, DNasp and Arlequin software. The results showed a high haplotype diversity and low nucleotide diversity, indicating a population expansion linked to an important gene flow. Genetic distances between populations were positively correlated with geographic distance. The importance of having highlighted this genetic differentiation of the B. aegyptiaca species between these sites is to be able to understand the degree of genetic heterogeneity of each and correlate it with adaptability because genetic diversity influences the adaptation of the species. 展开更多
关键词 Balanites aegyptiaca Ferlo MT-CYB MORPHOTYPES genetic Diversity
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Epidemiology and Genetic Evolution of Influenza B Viruses Circulating in the Democratic Republic of Congo from 2015 to 2022: Implication of Vaccination
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作者 Edith Nkwembe Ngabana Youdhie Ituneme N’ka Flabo +5 位作者 Grace Mufwaya Makayi Leonie Manya Kitoto Saleh Muhemedi Kayumba Pélagie Babakazo Hugo Kavunga Membo Steve Ahuka Mundeke 《Open Journal of Respiratory Diseases》 2025年第1期1-18,共18页
Introduction: Influenza A (Flu A) and B (Flu B) viruses are responsible for severe acute respiratory infections (SARI) worldwide, with a morbidity of 5 million and mortality of 29,000 - 650,000 deaths per year. Influe... Introduction: Influenza A (Flu A) and B (Flu B) viruses are responsible for severe acute respiratory infections (SARI) worldwide, with a morbidity of 5 million and mortality of 29,000 - 650,000 deaths per year. Influenza B viruses are an important cause of respiratory infections in humans, but they tend to be underappreciated due to the predominance of Influenza A. No molecular study on Influenza B has been carried out in the DRC. This study was conducted to document the molecular evolution of the hemagglutinin (HA) gene in the circulating Influenza B strains over the eight consecutive epidemic seasons (from 2015 to 2022). Methods: Samples were collected from outpatient cases suspected of influenza-like illness (ILI) and in all hospitalized patients with SARI from January 2015 to December 2022. Molecular analysis was done to determine influenza type and subtype, and then segments encoding the HA gene of Influenza B viruses were performed. Results: Of 8497 samples collected and tested, 639 (7.5%) were positive for influenza viruses, including 389 (60.8%) for Influenza A viruses and 248 (38,8%) for Influenza B viruses. Of the positive Influenza B samples, 91 were sequenced, including 26 belonging to the B/Yamagata lineage and 65 to the B/Victoria lineage. The HA gene of Influenza B viruses circulating in the DRC showed deletions in the HA1 region. Molecular analysis of Influenza B viruses reflects the genetic diversity of Influenza B/Yam virus clades (Y2, Y3, Y3V1A) alternating with Influenza B/Victoria virus clades (V1A, V1A.3) depending on the year and influenza seasons. The phylogenetic analysis of these Influenza B strains shows compatibility with the corresponding vaccine strains that the WHO had validated for each influenza season. Conclusion: This study underscores the importance of continuous molecular surveillance of Influenza B viruses in the DRC to understand their epidemiology and evolutionary dynamics. Identifying mutations, such as HA deletions, is critical for assessing their impact on transmissibility vaccine efficacy and guiding effective vaccination and control strategies. 展开更多
关键词 EPIDEMIOLOGY genetic Evolution Influenza B Viruses DRC
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Recent Advances in biological targeted therapies for bronchial asthma(2024)
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作者 Nan Su Bin Cao 《Allergy Medicine》 2025年第3期29-35,共7页
Bronchial asthma is divided into type 2 and non-type 2 asthma based on the immunopathogenesis.Type 2 inflammation is an inflammation mediated by T helper 2 cells,group 2 innate lymphoid cells and sustained by a specif... Bronchial asthma is divided into type 2 and non-type 2 asthma based on the immunopathogenesis.Type 2 inflammation is an inflammation mediated by T helper 2 cells,group 2 innate lymphoid cells and sustained by a specific subset of cytokines.In recent years,type 2 asthma has become the research hotspot in the field of asthma.For type 2 asthma,targeted therapies have become effective treatments and widely used in clinical practice.In order to further understand the progress of biologic drugs for bronchial asthma,as well as the disease outcomes in patients with type 2 asthma,and improve asthma control and remission,this article reviewed the progress and achievements of biologic drugs for asthma from May 1,2023 to April 30,2024,providing clinical perspective for the choosing appropriate targeted treatment of asthma.It also highlights selected poster pre-sentations from the ATS 2024 Annual Meeting to provide clinical insights for choosing appropriate targeted treatments for Type 2 asthma. 展开更多
关键词 Bronchial asthma Type 2 inflammation Type 2 asthma Treatment Biologic
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Gamma-Ray-Induced Genetic Variability for Yield Traits in M4 Generation in Upland Rice
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作者 Habibata Tinta Valentin Stanislas Edgar Traoré +5 位作者 Minimassom Philippe Nikiéma Arlette Wend-Yida Yasmine Kaboré Siébou Palé Hamidou Traoré Mahamadou Sawadogo Djibril Yonli 《Agricultural Sciences》 2025年第2期240-255,共16页
Varietal deficiencies of upland rice lead to a low paddy grain yield. The aim of this study was to mutagenesis upland rice varieties to improve their agronomic performance. Seeds of varieties FKR45N and FKR47N were th... Varietal deficiencies of upland rice lead to a low paddy grain yield. The aim of this study was to mutagenesis upland rice varieties to improve their agronomic performance. Seeds of varieties FKR45N and FKR47N were therefore irradiated with doses 300, 350 and 400 Gy. The irradiated seeds were sown and the panicles of the M1 plants were individually harvested, and then were advanced to M4 using the “one panicle - one progeny” method. The agronomic performance of M4 lines was compared to that of their parent. The gamma ray mutagenesis has induced significant variability in five yield components, i.e., plant height, main panicle length, total numbers of tillers and productive tillers and paddy grain yield between mutant lines. The highest variabilities were shown for the total number of tillers and the number of productive tillers as well as FKR45N (CV% = 40 % and 36%) and FKR47N (CV% = 31% and 30%) mutant lines. Principal component analysis led to rank the mutant lines from each variety in three clusters. The Pearson correlation showed that the paddy grain yield was significantly and positively correlated with the number of productive tillers (r = 0.61) and plant height (r = 0.66) for FKR47N mutant lines, and these correlation coefficients were r = 0.52 and r = 0.51 for FKR45N mutant lines, respectively. Gamma-ray irradiation also induced an earliness of 50% flowering of 62 days after sowing (DAS) in two FKR45N mutant lines and 67 DAS in one of KR47N mutant lines. The paddy grain yield was improved by 120% and 20% in two FKR45N and FKR47N mutant lines, respectively. A dwarf FKR45N mutant line with an early flowering of 67 DAS and a paddy grain yield (2.34 t ha−1) was generated. These results suggested that any positive increase in the six quantitative traits will increase the paddy grain yield. 展开更多
关键词 Upland Rice MUTAGENESIS genetic Variability Agronomic Performance
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A Genetic Algorithm Approach for Location-Specific Calibration of Rainfed Maize Cropping in the Context of Smallholder Farming in West Africa
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作者 Moussa Waongo Patrick Laux +2 位作者 Jan Bliefernicht Amadou Coulibaly Seydou B. Traore 《Agricultural Sciences》 2025年第1期89-111,共23页
Smallholder farming in West Africa faces various challenges, such as limited access to seeds, fertilizers, modern mechanization, and agricultural climate services. Crop productivity obtained under these conditions var... Smallholder farming in West Africa faces various challenges, such as limited access to seeds, fertilizers, modern mechanization, and agricultural climate services. Crop productivity obtained under these conditions varies significantly from one farmer to another, making it challenging to accurately estimate crop production through crop models. This limitation has implications for the reliability of using crop models as agricultural decision-making support tools. To support decision making in agriculture, an approach combining a genetic algorithm (GA) with the crop model AquaCrop is proposed for a location-specific calibration of maize cropping. In this approach, AquaCrop is used to simulate maize crop yield while the GA is used to derive optimal parameters set at grid cell resolution from various combinations of cultivar parameters and crop management in the process of crop and management options calibration. Statistics on pairwise simulated and observed yields indicate that the coefficient of determination varies from 0.20 to 0.65, with a yield deviation ranging from 8% to 36% across Burkina Faso (BF). An analysis of the optimal parameter sets shows that regardless of the climatic zone, a base temperature of 10˚C and an upper temperature of 32˚C is observed in at least 50% of grid cells. The growing season length and the harvest index vary significantly across BF, with the highest values found in the Soudanian zone and the lowest values in the Sahelian zone. Regarding management strategies, the fertility mean rate is approximately 35%, 39%, and 49% for the Sahelian, Soudano-sahelian, and Soudanian zones, respectively. The mean weed cover is around 36%, with the Sahelian and Soudano-sahelian zones showing the highest variability. The proposed approach can be an alternative to the conventional one-size-fits-all approach commonly used for regional crop modeling. Moreover, it has the potential to explore the performance of cropping strategies to adapt to changing climate conditions. 展开更多
关键词 Smallholder Farming AquaCrop genetics Algorithm Optimization MAIZE Burkina Faso
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