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Hypocalcified autosomal recessive amelogenesis imperfecta—A case report
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作者 Ali Azhar Dawasaz M. Zakirulla Meer Allahbaksh 《Open Journal of Stomatology》 2012年第4期251-254,共4页
Amelogenesis imperfecta is an unusual hereditory disorder affecting both primary and permanent dentition. We present a rare case of hypocalcified auto-somal recessive amelogenesis imperfecta occuring in primary dentit... Amelogenesis imperfecta is an unusual hereditory disorder affecting both primary and permanent dentition. We present a rare case of hypocalcified auto-somal recessive amelogenesis imperfecta occuring in primary dentition in a 7-year-old girl with a family history of consanguineous marriage. Clinical and radiological examination revealed discoloration and hypoplasia of enamel with easy chipping affecting both maxillary and mandibular dentition. 展开更多
关键词 Hypocalcified Autosomal recessive Consanguineous DISCOLORATION
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Investigation of Four Genes Responsible for Autosomal Recessive Congenital Cataract and Highly Expressed in the Brain in Four Unrelated Tunisian Families
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作者 Manèl Chograni Myriam Chaabouni +1 位作者 Faouzi Maazoul Habiba Chaabouni Bouhamed 《Open Journal of Ophthalmology》 2012年第3期64-70,共7页
Purpose: To identify the causative gene for phenotypes associating autosomal recessive congenital cataract, mental retardation and congenital cataract, mental retardation and microcephaly in four unrelated Tunisian fa... Purpose: To identify the causative gene for phenotypes associating autosomal recessive congenital cataract, mental retardation and congenital cataract, mental retardation and microcephaly in four unrelated Tunisian families. Methods: Four genes (EPHA2, GALK1, GCNT2, and CRYBB1) were selected based on expression in human brain and their known or putative function. Linkage analyses were performed for the four genes in multiple affected and unaffected families’ members and results were explored by the GeneMapper ID v3.2 software. Results: No linkage was identified for the four studied genes in the four families. Affected members of each family did not share common haplotypes in corresponding candidate regions containing selected gene. Conclusion: Although the four studied genes were reported responsible for autosomal recessive congenital cataract and highly expressed in the human brain, we report no linkage for EPHA2, GALK1, GCNT2, and CRYBB1 genes in four families with congenital cataract, mental retardation and congenital cataract, mental retardation and microcephaly. 展开更多
关键词 CONGENITAL CATARACT Mental RETARDATION MICROCEPHALY Autosomal recessive Association Linkage Study
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Genetic Analysis and Preliminary Mapping of Two Recessive Resistance Genes to Brown Planthopper, Nilaparvata lugens Stl in Rice 被引量:3
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作者 HOU Li-yuan1, 2, YU Ping1, XU Qun1, YUAN Xiao-ping1, YU Han-yong1, WANG Yi-ping1, WANG Cai-hong1, WAN Guo1, 2, TANG Sheng-xiang1, PENG Suo-tang2, WEI Xing-hua1 (1State Key Laboratory of Rice Biology, China National Rice Research Institute, Hangzhou 310006, China 2Shanxi Agricultural University, Taigu 030801, China) 《Rice science》 SCIE 2011年第3期238-242,共5页
An F2 population derived from the cross of WB01, an introgression line resistant to brown planthopper (BPH) originated from Oryza rufipogon Griff. and a susceptible indica variety 9311, was developed for genetic analy... An F2 population derived from the cross of WB01, an introgression line resistant to brown planthopper (BPH) originated from Oryza rufipogon Griff. and a susceptible indica variety 9311, was developed for genetic analysis and gene mapping. The population with 303 F2:3 families was genotyped by 141 simple sequence repeat (SSR) markers and used for gene mapping. Two softwares, Mapmaker/Exp 3.0 and Windows QTL Cartographer V2.0 were applied to detect QTLs. Totally, two QTLs resistant to BPH, named temporarily as bph22(t) and bph23(t), were identified to locate on chromosomes 4 and 8, individually had LOD values of 2.92 and 3.15, and explained 11.3% and 14 .9% of the phenotypic variation, respectively. 展开更多
关键词 brownplanthopper Oryza rufipogon resistance gene simple sequence repeat marker gene mapping
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Genes to Beat Parasite
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《Bulletin of the Chinese Academy of Sciences》 2025年第1期14-14,共1页
Researchers from the Institute of Genetics and Developmental Biology(IGDB)of the Chinese Academy of Sciences,with collaborators,identified two sorghum genes(SbSLT1 and SbSLT2)that block Striga-a parasitic plant,also k... Researchers from the Institute of Genetics and Developmental Biology(IGDB)of the Chinese Academy of Sciences,with collaborators,identified two sorghum genes(SbSLT1 and SbSLT2)that block Striga-a parasitic plant,also known as“witchweed,”that causes$1.5 billion annual losses in Africa by draining crop nutrients.Published in Cell(February 12,2025),the study shows that these genes regulate strigolactones(SLs). 展开更多
关键词 STRIGOLACTONES STRIGA genes genetics developmental biology igdb sorghum genes sbslt witchweed SORGHUM parasites
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The distribution of antibiotic resistance and virulence factor genes in the sediment of Inexpressible Island,East Antarctica
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作者 Ruyi Dong Yongqin Liu +2 位作者 Ninglian Wang Kellynn K.Y.Tan Mukan Ji 《Marine Life Science & Technology》 2025年第4期978-988,共11页
Inexpressible Island is a small rocky island in Terra Nova Bay,Victoria Land,Antarctica,which is an area with limited human activities.Understanding the distribution of antibiotic-resistance genes(ARGs)and virulence f... Inexpressible Island is a small rocky island in Terra Nova Bay,Victoria Land,Antarctica,which is an area with limited human activities.Understanding the distribution of antibiotic-resistance genes(ARGs)and virulence factor genes(VFGs)in this environment can provide key information on their potential risks to humans and their roles for microbial survival.In this study,we investigated the ARGs and VFGs in lake sediments from Inexpressible Island using metagenomic sequencing.We identified 11,502,071 open-reading frames(ORFs),with 1,749 classified as ARGs and 6,838 as VFGs.The dominant ARGs were associated with antibiotic target alteration and efflux pump mechanisms,while the VFGs were related to adher-ence and immune modulation functions.While associated within microbial genomes,these ARGs and VFGs were mobile genetic elements like viruses and insertion sequences,distinct from ecosystems with strong human influence.We identified 974 metagenome-assembled genomes(MAGs),with 465 being medium-to-high quality.Of these,325(69.9%)contained ARGs,primarily affiliated with Actinomycetota and Pseudomonadota.Additionally,269 MAGs contained VFGs,with 174 MAGs carrying both ARGs and VFGs,highlighting significant microbial antibiotic resistance and pathogenic potential.Our findings highlight the need for ongoing monitoring of ARGs and VFGs in Antarctica,particularly in light of increasing human activity and climate change. 展开更多
关键词 Antibiotic-resistance genes Virulence factor genes Inexpressible Island Antarctic Lake sediment METAGENOME
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Bioinformatics-based analysis of autophagy-related genes and prediction of potential Chinese medicines in diabetic kidney disease
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作者 Yufeng XING Zining PENG Chaoyang YE 《Digital Chinese Medicine》 2025年第1期90-99,共10页
Objective To predict the autophagy-related pathogenesis and key diagnostic genes of diabetic kidney disease(DKD)through bioinformatics analysis,and to identify related Chinese medicines.Methods Data from sequencing mi... Objective To predict the autophagy-related pathogenesis and key diagnostic genes of diabetic kidney disease(DKD)through bioinformatics analysis,and to identify related Chinese medicines.Methods Data from sequencing microarrays GSE30528,GSE30529,and GSE1009 in the Gene Expression Omnibus(GEO)were employed.Differentially expressed genes(DEGs)with adjusted P<0.05 from GSE30528 and GSE30529 were identified.Combining these DEGs with the human autophagy gene database,Gene Ontology(GO),Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analyses,and protein-protein interaction(PPI)network analysis were conducted on the obtained DKD autophagy-related genes.Subsequently,the least absolute shrinkage and selection operator(LASSO)regression and support vector machinerecursive feature elimination(SVM-RFE)algorithms were adopted to select autophagy-related genes.The diagnostic capability of these genes was assessed through analysis with the external validation set from microarray GSE1009,and relevant Chinese medicines were inversely predicted using the SymMap database.Results A total of 2014 DEGs were selected from GSE30528 and GSE30529,leading to the identification of 37 DKD autophagy-related genes.GO analysis indicated 681 biological mechanisms,including autophagy regulation and plasma membrane microdomain activity.KEGG enrichment analysis identified 112 related signaling pathways.PPI network analysis showed a marked enrichment of autophagy-related genes in DKD.Through LASSO regression and SVM-RFE,four core diagnostic genes for autophagy in DKD were identified:protein phosphatase 1 regulatory subunit 15A(PPP1R15A),hypoxia inducible factor 1 alpha subunit(HIF1α),deleted in liver cancer 1(DLC1),and ceroid lipofuscinosis neuronal 3(CLN3).The external validation set demonstrated high diagnostic efficiency for these genes.Finally,146 kinds of potential Chinese medicines were predicted using the SymMap database,with heatclearing and detoxifying medicine and blood-activating and stasis-eliminating medicine accounting for the largest proportion(25/146 and 13/146,respectively).Conclusion This study analyzed and validated bioinformatics sequencing databases to elucidate the potential molecular mechanisms of DKD autophagy and predicted key diagnostic genes,potential therapeutic targets,and related Chinese medicines,laying a solid foundation for clinical research and application. 展开更多
关键词 BIOINFORMATICS Differentially expressed genes Diabetic kidney disease Autophagy genes Prediction of Chinese medicines
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The photo-based treatment technology simultaneously removes resistant bacteria and resistant genes from wastewater 被引量:1
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作者 Zicong Guo Xiang Tang +8 位作者 Wenjun Wang Zhangxiong Luo Yuxi Zeng Nan Zhou Zhigang Yu Dongbo Wang Biao Song Chengyun Zhou Weiping Xiong 《Journal of Environmental Sciences》 2025年第2期243-262,共20页
Because of the recent widespread usage of antibiotics,the acquisition and dissemination of antibiotic-resistance genes(ARGs)were prevalent in the majority of habitats.Generally,the biological wastewater treatment proc... Because of the recent widespread usage of antibiotics,the acquisition and dissemination of antibiotic-resistance genes(ARGs)were prevalent in the majority of habitats.Generally,the biological wastewater treatment processes used in wastewater treatment plants have a limited efficiencies of antibiotics resistant bacteria(ARB)disinfection and ARGs degradation and even promote the proliferation of ARGs.Problematically,ARB and ARGs in effluent pose potential risks if they are not further treated.Photocatalytic oxidation is considered a promising disinfection technology,where the photocatalytic process generates many free radicals that enhance the interaction between light and deoxyribonucleic acid(DNA)for ARB elimination and subsequent degradation of ARGs.This reviewaims to illustrate the progress of photocatalytic oxidation technology for removing antibiotics resistant(AR)from wastewater in recent years.We discuss the sources and transfer of ARGs in wastewater.The overall removal efficiencies of ultraviolet radiation(UV)/chlorination,UV/ozone,UV/H_(2)O_(2),and UV/sulfate-radical based system for ARB and ARGs,as well as the experimental parameters and removal mechanisms,are systematically discussed.The contribution of photocatalytic materials based on TiO_(2) and g-C_(3)N_(4) to the inactivation of ARB and degradation of ARGs is highlighted,producingmany free radicals to attack ARB and ARGs while effectively limiting the horizontal gene transfer(HGT)in wastewater.Finally,based on the reviewed studies,future research directions are proposed to realize specific photocatalytic oxidation technology applications and overcome current challenges. 展开更多
关键词 Antibiotics resistant genes Antibiotics resistant bacteria Photocatalytic oxidation
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Effects of reductive soil disinfestation on potential pathogens and antibiotic resistance genes in soil 被引量:2
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作者 Huijuan Duan Yue Yin +5 位作者 Yifei Wang Zhelun Liu Tiangui Cai Dong Zhu Chun Chen Guilan Duan 《Journal of Environmental Sciences》 2025年第4期373-384,共12页
Reductive soil disinfestation(RSD)is commonly employed for soil remediation in greenhouse cultivation.However,its influence on antibiotic resistance genes(ARGs)in soil remains uncertain.This study investigated the dyn... Reductive soil disinfestation(RSD)is commonly employed for soil remediation in greenhouse cultivation.However,its influence on antibiotic resistance genes(ARGs)in soil remains uncertain.This study investigated the dynamic changes in soil communities,potential bacterial pathogens,and ARG profiles under various organicmaterial treatments during RSD,including distillers’grains,potato peel,peanut vine,and peanut vine combined with charcoal.Results revealed that applying diverse organic materials in RSD significantly altered bacterial community composition and diminished the relative abundance of potential bacterial pathogens(P<0.05).The relative abundance of high-risk ARGs decreased by 10.7%-30.6%after RSD treatments,the main decreased ARG subtypeswere AAC(3)_Via,dfrA1,ErmB,lnuB,aadA.Actinobacteria was the primary host of ARGs and was suppressed by RSD.Soil physicochemical properties,such as total nitrogen,soil pH,total carbon,were crucial factors affecting ARG profiles.Our findings demonstrated that RSD treatment inhibited pathogenic bacteria and could be an option for reducing high-risk ARG proliferation in soil. 展开更多
关键词 Reductive soil disinfestation(RSD) Antibiotic resistance genes(ARGs) Bacterial communities Farmland soil Potential pathogens
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Simultaneous knockout of multiple eukaryotic translation initiation factor 4E genes confers durable and broad-spectrum resistance to potyviruses in tobacco
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作者 Yong Liu Shuo Wang +7 位作者 Danyang Zhao Chenglu Zhao Haiqin Yu Jianmin Zeng Zhijun Tong Cheng Yuan Zhenghe Li Changjun Huang 《aBIOTECH》 2025年第2期232-248,共17页
Recessive resistance mediated by mutations in the eukaryotic translation initiation factor 4E(eIF4E),has proven effective against diverse potyviruses and is extensively utilized in breeding programs.However,the rise o... Recessive resistance mediated by mutations in the eukaryotic translation initiation factor 4E(eIF4E),has proven effective against diverse potyviruses and is extensively utilized in breeding programs.However,the rise of resistance-breaking(RB)strains and emerging potyviral species necessitates the development of more durable and broad-spectrum resistance strategies.In this study,our field survey in Yunnan,China,identified potato virus Y(PVY)RB isolates,as well as the prevalence of tobacco vein banding mosaic virus(TVBMV)and chilli veinal mottle virus(ChiVMV),in tobacco carrying the recessive va locus,which lacks the eIF4E1-S susceptibility gene,due to a chromosomal deletion.Protein interaction and viral infection assays demonstrated that both eIF4E1-S and eIFiso4E-T are used by PVY RB as susceptibility factors for infection,with the combined inactivation of these genes confering durable resistance.Similarly,the knockout of eIFiso4E-S,in the va genetic background,provided effective resistance to TVBMV and reduced susceptibility to ChiVMV.Notably,pyramiding mutations in eIFiso4E-S and eIFiso4E-T,in va tobacco,generated plants exhibiting robust,broad-spectrum resistance,to all three viruses,without compromising plant development.These findings underscore the potential of stacking eIF4E mutations to engineer durable,broad-spectrum resistance to potyviruses in tobacco,offering a promising strategy for crop improvement. 展开更多
关键词 Eukaryotic translation initiation factor 4E recessive resistance POTYVIRUS Gene editing Durable resistance Broad-spectrum resistance
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Plasmid-mediated transfer of antibiotic resistance genes and biofilm formation in a simulated drinking water distribution system under chlorine pressure 被引量:1
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作者 Yexing Wang Yingyu Zhang +2 位作者 Xiuneng Zhu Yulin Tang Yongji Zhang 《Journal of Environmental Sciences》 2025年第6期376-388,共13页
The effects of disinfectants and plasmid-based antibiotic resistance genes(ARGs)on the growth of microorganisms and the plasmid-mediated transfer of ARGs in the water and biofilm of the drinkingwater distribution syst... The effects of disinfectants and plasmid-based antibiotic resistance genes(ARGs)on the growth of microorganisms and the plasmid-mediated transfer of ARGs in the water and biofilm of the drinkingwater distribution system under simulated conditionswere explored.The heterotrophic plate count of the water in reactors with 0.1 mg/L NaClO and NH_(2)Cl was higher than in the control groups.Therewas no similar phenomenon in biofilm.In thewater of reactors containing NaClO,the aphA and bla geneswere lower than in the antibiotic resistant bacteria group,while both genes were higher in the water of reactors with NH_(2)Cl than in the control group.Chloramine may promote the transfer of ARGs in the water phase.Both genes in the biofilm of the reactors containing chlorine were lower than the control group.Correlation analysis between ARGs and water quality parameters revealed that the copy numbers of the aphA gene were significantly positively correlated with the copy numbers of the bla gene in water and significantly negatively correlated in biofilm(p<0.05).The results of the sequencing assay showed that bacteria in the biofilm,in the presence of disinfectant,were primarily Gram-negative.1.0 mg/L chlorine decreased the diversity of the community in the biofilm.The relative abundance of some bacteria that may undergo transfer increased in the biofilm of the reactor containing 0.1 mg/L chlorine. 展开更多
关键词 DISINFECTANT Antibiotic resistance genes(ARGs) Heterotrophic plate count(HPC) Drinking water distribution system Biofilm
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Genotypic Profiling and Clinical Impact of Helicobacter pylori Virulence Genes (GLM, HPU, VacA, CagA, and IceA) in Gastroduodenal Diseases among Libyan Patients
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作者 Aya M. Al-Farjany Madiha W. El-Awamie +5 位作者 Nariman A. Elsharif Omar S. Alqabbasi Wail A. Alhawari Fatema I. E. Najem Tarek S. Bader Farag A. Bleiblo 《American Journal of Molecular Biology》 2025年第1期53-74,共22页
Helicobacter pylori infection represents a widespread chronic condition with varying prevalence influenced by race, ethnicity, and geography. The severity of H. pylori-associated diseases is determined by an array of ... Helicobacter pylori infection represents a widespread chronic condition with varying prevalence influenced by race, ethnicity, and geography. The severity of H. pylori-associated diseases is determined by an array of virulence factors. Although extensive studies have been conducted globally, data on the distribution of Helicobacter pylori virulence genes in Libya remain limited, constraining insights into the pathogenicity of local strains and hindering the development of targeted interventions. This study aimed to evaluate the prevalence of H. pylori infection, characterize essential virulence genes [vacA variants (s1/s2, m1/m2), cagA, and iceA1], and examine their association with gastroduodenal diseases among Libyan patients. Gastric biopsies from 144 participants were analyzed using polymerase chain reaction (PCR) assays, and risk factor data were collected via questionnaires. H. pylori was detected in 63.2% of samples by PCR. The vacA gene was present in 84.6% of cases, cagA in 58.2%, and iceA1 in 29.7%. Among vacA variants, s1 allele was most common (53.2%), followed by m1 (42.9%), m2 (37.7%), and s2 (13%) alleles. Significant associations were identified between specific virulence genes and the development of gastroduodenal diseases, highlighting their role in pathogenicity. This investigation is one of Libya’s first comprehensive assessments of H. pylori virulence factors, addressing a critical epidemiological gap. The high prevalence of virulence genes suggests their potential as disease biomarkers. These findings contribute to a deeper understanding of H. pylori pathogenicity within the Libyan population and establish a basis for future clinical interventions and public health strategies to manage and prevent H. pylori-associated diseases in Libya and comparable regions. 展开更多
关键词 H. pylori Virulence genes Gastroduodenal Diseases Gastric Biopsy PCR
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Establishment of an efficient Agrobacterium rhizogenes-mediated hairy root transformation method for subtropical fruit trees 被引量:1
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作者 Mao Yin Yonghua Jiang +4 位作者 Yingjie Wen Fachao Shi Hua Huang Qian Yan Hailun Liu 《Horticultural Plant Journal》 2025年第4期1699-1702,共4页
Agrobacterium tumefaciens-mediated transformation has been widely adopted for plant genetic engineering and the study of gene function(Krenek et al.,2015).This method is prevalent in the genetic transformation of herb... Agrobacterium tumefaciens-mediated transformation has been widely adopted for plant genetic engineering and the study of gene function(Krenek et al.,2015).This method is prevalent in the genetic transformation of herbaceous plants,with notable applications in species such as Arabidopsis(Yin et al.,2024),soybean(Zhang et al.,2024),rice(Zhang et al.,2020),and Chinese cabbage(Li et al.,2021).However,its application in fruit trees is limited.This is primarily due to their long growth cycles and lack of rapid,efficient,and stable transgenic systems,which severely hinders foundational research involving plant genetic transformation(Mei et al.,2024).Furthermore,for subtropical fruit trees,the presence of recalcitrant seeds adds an extra layer of difficulty to genetic transformation(Umarani et al.,2015),as most methods rely on seed germination as a basis for transformation. 展开更多
关键词 study gene function krenek plant genetic engineering hairy root transformation fruit trees agrobacterium rhizogenes subtropical fruit trees genetic transformation chinese cabbage li
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How to select favorable and promising alleles and genotypes for breeding:A case study of rice blast resistance genes in Southern and Northeastern China 被引量:1
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作者 Xing Wang Jinyan Wang +8 位作者 Yaling Zhang Yongxiang Yao Ying Sun Liping Lin Xuemei Ye Rongbai Li Zhibin Liang Yizhen Deng Qinghua Pan 《The Crop Journal》 2025年第1期104-114,共11页
Asian rice comprises two major subspecies:Xian(X)and Geng(G),and the diverged resistance genes(R)have provided a foundation for breeding improved cultivars to control rice blast disease.After conducting two-phase alle... Asian rice comprises two major subspecies:Xian(X)and Geng(G),and the diverged resistance genes(R)have provided a foundation for breeding improved cultivars to control rice blast disease.After conducting two-phase allele mining using six updated FNP marker systems,the functional haplotypes at Pit,Pib,and Pi63 strictly diverged into the X-populations and were defined as X-R loci,while those at Pi54,Pi37,and Pi36 into the G-populations as G-R loci.The genic diversity at the three X-R loci(16 alleles)was twofold higher than that at the three G-R loci(8 alleles),and the allelic diversity in the Southern region(21 alleles)was nearly double that in the Northeastern region(11 alleles).Both observations reflect a significant difference in genetic diversity between X-and G-populations,and indicate that the effective R-genes mainly originated from X-subspecies.Based on the allelic structures characterized by a set of 10 parameters,8 and 16 alleles were respectively recognized as favorable and promising ones for the regional breeding programs.The genotypic structures of the two regional populations were almost different,indicating that the diverged alleles have been further assembled into two series of regional genotypes through long-term breeding programs,despite the presence of one-third of region-common alleles.The genotypic diversity in the Southern region(55 genotypes)was nearly twice as high as that in the Northeastern region(28),which perfectly reflects the aforementioned differences in both genic and allelic diversities.After analyzing the genotypic structures using a set of 13 parameters,4 and 23 genotypes,respectively,can be recommended as the favorable and promising ones for the regional breeding programs.The case study serves as a concrete sample of how to identify the favorable and promising alleles and genotypes,and beneficial parents based their comprehensive population structures for gene-designed breeding. 展开更多
关键词 Rice blast Xian and Geng type resistance genes Allelic and genotypic population structures Favorable allele and genotype Promising allele and genotype
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Bioinformatics and In-Silico Findings Reveal Candidate Genes forTetralogy of Fallot via Integrative Multi-Omics Data
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作者 Jiawei Shi Zhen Wang +11 位作者 Ying Bai shiying Li Xin Zhang Tianshu Liu Liu Hong Li Cui Yi Zhang Jing Ma Juanjuan Liu Jing Zhang Haiyan Cao Jing Wan 《Congenital Heart Disease》 2025年第2期213-229,共17页
Background:Tetralogy of Fallot(TOF),the predominant cyanotic congenital heart defect,arisesfrom multifactorial gene-envirorment interactions disrup ting cardiac developmental networks.This studyinvestiga ted TOF-speci... Background:Tetralogy of Fallot(TOF),the predominant cyanotic congenital heart defect,arisesfrom multifactorial gene-envirorment interactions disrup ting cardiac developmental networks.This studyinvestiga ted TOF-specific transcriptional alterations and identified high-confidence candidate genes.Methods:Based on GSE36761 transcriptome data,a weighted gene co-exp ression network analysis(WGCNA)andprotein-protein interaction(PPI)network were conducted to identify TOF-related sub-netrwork and Hub genes.The potentialbiological functions among these genes were revealed by enrichment analysis.Genetic,epigeneticand transcriptional alteration in the Fub genes were analyzed with leveraged public resources:a methylationdataset(CSE62629)and two single-cell datasets(EGAS00001003996 and GSE126128),Results:Eight Hub geneswere identified using the WGCNA network and PPl network,and functional errichment analysis revealedthatGJA1,RUNX2,FTK7,PRICKLE1,and SPRP1 were involved in the morphogenesis of an epithelium,anddysregulation of the signaling were also found in the other two TOF datasets,Furthermore,the study foundthat the promoters of GJA1,RUNX2,FTK7,and PRICKLE1 genes were hypermethylated and that GJA1 andSFRP1 are highly expressed in mouse second heart field cells and neural crest cells,and the la tter is expressedin human embry onic outflow tract cells.Since RUNX2 was not expressed in human and mouse embryonichearts,GJA1,FTK7,PRICKLE1,and SPRP1 were ultimately identified as TOF candidate genes.Conclusion:Based on the WGCNA network and various bioinformatics analysis approaches,we screened 4 TOF candidatepathogenic genes,and found that the signaling pathways related to the morphogenesis of an epithelium maybe involved in the pathogenesis of TOF. 展开更多
关键词 Tetralogy of Fallot gene regulatory networks weighted gene co-expression network analysis protein-protein interaction network d isease candidate genes
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Skeletal abnormalities caused by a Connexin43_(R239Q)mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
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作者 Yasuyuki Fujii Iichiro Okabe +7 位作者 Ayano Hatori Shyam Kishor Sah Jitendra Kanaujiya Melanie Fisher Rachael Norris Mark Terasaki Ernst J.Reichenberger I-Ping Chen 《Bone Research》 2025年第2期370-383,共14页
Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of lo... Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones.Many patients with CMD suffer from neurological symptoms.The pathogenesis of CMD is not fully understood. 展开更多
关键词 connexin r q mutation mouse model hyperostosis craniofacial bones metaphyseal flaring craniometaphyseal dysplasia skeletal abnormalities autosomal recessive craniotubular disorderoccurs
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Genome-wide analysis of AhCN genes reveals that AhCN34 is involved in bacterial wilt resistance in peanut
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作者 Kai Zhao Yanzhe Li +20 位作者 Zhan Li Zenghui Cao Xingli Ma Rui Ren Kuopeng Wang Lin Meng YangYang Miaomiao Yao Yang Yang Xiaoxuan Wang Jinzhi Wang Sasa Hu Yaoyao Li Qian Ma Di Cao Kunkun Zhao Ding Qiu Fangping Gong Zhongfeng Li Xingguo Zhang Dongmei Yin 《Journal of Integrative Agriculture》 2025年第10期3757-3771,共15页
Peanut(Arachis hypogaea L.)bacterial wilt(BW)is a devastating soil-borne disease caused by Ralstonia solanacearum(RS)that poses a significant threat to peanut yield and quality.Nucleotide-binding leucine-rich repeat(N... Peanut(Arachis hypogaea L.)bacterial wilt(BW)is a devastating soil-borne disease caused by Ralstonia solanacearum(RS)that poses a significant threat to peanut yield and quality.Nucleotide-binding leucine-rich repeat(NBS-LRR)proteins are a class of plant-specific immune receptors that recognize pathogen-secreted effector molecules and activate immune responses to resist pathogen infections.However,the precise functions of AhCN genes(where CN is a class of nucleotide-binding site,leucine-rich repeat receptor(NLR)genes that lack LRR structural domains)in peanut plants are not fully understood.In this study,a total of 150 AhCN genes were identified and classified into nine subfamilies based on a systematic phylogenetic analysis.The AhCN genes showed highly conserved structural features,and the promoter cis-elements indicated involvement in plant hormone signaling and defense responses.After inoculation with RS,the highly resistant peanut variety‘H108’significantly outperformed the susceptible variety‘H107’based on physiological indicators such as plant height,main stem diameter,and fresh weight,likely due to the inhibition of bacterial proliferation and diffusion in the stem vascular bundle.AhCN34 was found to be significantly upregulated in‘H108’compared to‘H107’during plant infection and in response to treatments with each of three plant hormones.Importantly,AhCN34 overexpression in peanut leaves enhanced their resistance to BW.These findings demonstrate the great potential of AhCN34 for applications in peanut resistance breeding.Our identification and characterization of the AhCN genes provide insights into the mechanisms underlying BW resistance in peanut and can inform future research into genetic methods of improving BW resistance in peanut. 展开更多
关键词 PEANUT bacterial wilt RESISTANCE NLR genes DISEASE
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Distribution of antibiotic resistance genes on chromosomes,plasmids and phages in aerobic biofilm microbiota under antibiotic pressure
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作者 Chen Wang Zhe Tian +3 位作者 Xiao Luan Hong Zhang Yu Zhang Min Yang 《Journal of Environmental Sciences》 2025年第10期647-659,共13页
The objective of this study is to quantitatively reveal the main genetic carrier of antibiotic resistance genes(ARGs)for blocking their environmental dissemination.The distribution of ARGs in chromosomes,plasmids,and ... The objective of this study is to quantitatively reveal the main genetic carrier of antibiotic resistance genes(ARGs)for blocking their environmental dissemination.The distribution of ARGs in chromosomes,plasmids,and phages for understanding their respective contributions to the development of antimicrobial resistance in aerobic biofilm consortium under increasing stresses of oxytetracycline,streptomycin,and tigecyclinewere revealed based on metagenomics analysis.Results showed that the plasmids harbored 49.2%-83.9%of resistomes,which was higher(p<0.001)than chromosomes(2.0%-35.6%),and no ARGs were detected in phage contigs under the strict alignment standard of over 80%identity used in this study.Plasmids and chromosomes tended to encode different types of ARGs,whose abundances all increased with the hike of antibiotic concentrations,and the variety of ARGs encoded by plasmids(14 types and 64 subtypes)was higher than that(11 types and 27 subtypes)of chromosomes.The dosing of the three antibiotics facilitated the transposition and recombination of ARGs on plasmids,mediated by transposable and integrable transfer elements,which increased the co-occurrence of associated and unassociated ARGs.The results quantitatively proved that plasmids dominate the proliferation of ARGs in aerobic biofilm driven by antibiotic selection,which should be a key target for blocking ARG dissemination. 展开更多
关键词 Plasmids Chromosomes PHAGES Antibiotic resistance genes METAGENOMICS
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Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy
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作者 Ying Hong Hu-Tao Xi +2 位作者 Xin-Yi Yang Wilber W Su Xiao-Ping Li 《World Journal of Cardiology》 2025年第1期47-54,共8页
Hypertrophic cardiomyopathy(HCM)is an autosomal dominant inherited cardiomyopathy characterized by left ventricular hypertrophy.It is one of the chief causes of sudden cardiac death in younger people and athletes.Mole... Hypertrophic cardiomyopathy(HCM)is an autosomal dominant inherited cardiomyopathy characterized by left ventricular hypertrophy.It is one of the chief causes of sudden cardiac death in younger people and athletes.Molecular-genetic studies have confirmed that the vast majority of HCM is caused by mutations in genes encoding sarcomere proteins.HCM has a relatively wide phenotypic heterogeneity,varying from asymptomatic to sudden cardiac death,because of the many different mutations and pathogenic genes underlying it.Many studies have explored the clinical symptoms and prognosis of HCM,emphasizing the importance of genotype in evaluating patient prognosis and guiding the clinical management of HCM.To elaborate the main pathogenic genes and phenotypic prognosis in HCM to promote a better understanding of this genetic disease.Retrospective analysis of literature to evaluate the association between underlying gene mutations and clinical phenotypes in HCM patients.As sequencing technology advances,the pathogenic gene mutation spectrum and phenotypic characteristics of HCM are gradually becoming clearer.HCM is a widespread inherited disease with a highly variable clinical phenotype.The precise mechanisms linking known pathogenic gene mutations and the clinical course of this heterogeneous condition remain elusive. 展开更多
关键词 Hypertrophic cardiomyopathy GENOTYPE PHENOTYPE Pathogenic genes PROGNOSIS
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Development and Assessment of Reference Genes for qPCR of Malus transitoria under Drought Stress
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作者 Ting Li Jun Xv Defang Zhang 《Phyton-International Journal of Experimental Botany》 2025年第3期911-927,共17页
The use of a stable reference gene is fundamental for achieving reliable quantitative qRT-PCR (qPCR) results. Developing and evaluating the stability of reference genes is necessary for studying the molecular mechanis... The use of a stable reference gene is fundamental for achieving reliable quantitative qRT-PCR (qPCR) results. Developing and evaluating the stability of reference genes is necessary for studying the molecular mechanisms of M. transitoria in response to drought stress. In this study, 18 candidate reference genes were selected from transcriptome sequencing data of M. transitoria according to their FPKM values under different drought stress degrees. Cluster-23533.34641 was identified as the most stable reference gene for M. transitoria under drought stress based on qPCR results and combined analysis of Genorm, NormFinder, BestKeeper, and Delta Ct algorithms. The reference genes identified in this research offer improved accuracy for quantifying target gene expression in both M. transitoria and Malus species under drought stress. This study could provide insights into the drought stress-related functional gene or factor in M. transitoria, even in Malus species. 展开更多
关键词 Reference genes Malus transitoria drought stress qPCR
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Genes and QTLs discovery for sesame(Sesamum indicum L.)breeding traits:A review
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作者 Desawi Hdru Teklu Ahmed A.Abbas +1 位作者 Jun You Linhai Wang 《Oil Crop Science》 2025年第3期240-258,共19页
Sesame is a multi-purpose high-value oilseed crop,which can beused in the food,feed,and cosmetics applica-tions.The low yield of sesame is due to the lack of high-yielding and locally adapted varieties,which have the ... Sesame is a multi-purpose high-value oilseed crop,which can beused in the food,feed,and cosmetics applica-tions.The low yield of sesame is due to the lack of high-yielding and locally adapted varieties,which have the susceptibility to capsule shattering and biotic and abiotic stresses.The breeding gains in sesame are low and stagnant compared to other oilseed crops such as canola,groundnut and sunflower.Breeding for enhanced yieldrelated,oil quantity and quality,biotic and abiotic stresses tolerant varieties is vital to the adaptation of the climate change.Several genes and quantitative trait loci(QTLs)related to yield-related,oil quantity and quality,biotic and abiotic stresses tolerant have been identified through modern plant breeding tools in sesame.The depth understanding of the genetic basis,molecular mechanisms and regulatory genes involved in yield-related,oil quantity and quality,biotic and abiotic stresses tolerant in sesame is important for the improvement of sesame breeding programs.This article reviews and documents these achievements will provide fundamental data and references for practical applications of sesam research. 展开更多
关键词 Candidate genes Genetic diversity GWAS QTL Sesamum indicum
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