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Interplay between diet and genetic susceptibility in obesity and related traits

Tiange Wang, Min Xu, Yufang Bi, Guang Ning

《医学前沿（英文）》 2018年第12卷第6期页码 601-607 doi: 10.1007/s11684-018-0648-6

摘要：

The incidence of obesity has been rapidly increasing, and this condition has become a major public health threat. A substantial shift in environmental factors and lifestyle, such as unhealthy diet, is among the major driving forces of the global obesity pandemic. Longitudinal studies and randomized intervention trials have shown that genetic susceptibility to obesity may interact with dietary factors in relation to the body mass index and risk of obesity. This review summarized data from recent longitudinal studies and intervention studies on variations and diets and discussed the challenges and future prospects related to this area and public health implications.

关键词： diet genetic susceptibility obesity interaction

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Advancement in genetic variants conferring obesity susceptibility from genome-wide association studies

null

《医学前沿（英文）》 2015年第9卷第2期页码 146-161 doi: 10.1007/s11684-014-0373-8

摘要：

Obesity prevalence has increased in recent years. Lifestyle change fuels obesity, but genetic factors cause more than 50% of average variations in obesity. The advent of genome-wide association studies (GWAS) has hastened the progress of polygenic obesity research. As of this writing, more than 73 obesity susceptibility loci have been identified in ethnic groups through GWAS. The identified loci explain only 2% to 4% of obesity heritability, thereby indicating that a large proportion of loci remain undiscovered. Thus, the next step is to identify and confirm novel loci, which may exhibit smaller effects and lower allele frequencies than established loci. However, achieving these tasks has been difficult for researchers. GWAS help researchers discover the causal loci. Moreover, numerous biological studies have been performed on the polygenic effects on obesity, such as studies on fat mass- and obesity-associated gene (FTO), but the role of these polygenic effects in the mechanism of obesity remains unclear. Thus, obesity-causing variations should be identified, and insights into the biology of polygenic effects on obesity are needed.

关键词： obesity genetics genome-wide association studies body mass index fat mass- and obesity-associated gene

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Association of the genetic polymorphism of EPHX1 and EPHX2 with the susceptibility to chronic benzene

SUN Pin, ZHANG Zhongbin, WU Fen, WAN Junxiang, JIN Xibeng, XIA Zhaolin

《医学前沿（英文）》 2007年第1卷第3期页码 320-326 doi: 10.1007/s11684-007-0062-y

摘要： The aim of this study was to explore the association of the genetic polymorphism of and with the susceptibility to chronic benzene poisoning (CBP). A case-control study of 268 patients with CBP and 268 healthy workers matched by age and sex, all of whom were occupationally exposed to benzene, was conducted. The single nucleotide polymorphisms (SNPs, rs2854451, rs3738047, rs2234922 and rs1051741) of gene and the SNP (rs751141) of gene were tested by the TaqMan PCR method. In the subjects carrying the genotype of rs3738047 GG, the risk of CBP was decreased in the individuals simultaneously carrying rs2234922 G ( = 0.02). Alternatively, in the subjects carrying the genotype of rs2234922 AA, the risk of CBP was increased in the individuals simultaneously carrying the allele of rs751141A ( = 0.03). It was also found that there were potential interactions between alcohol consumption and the polymorphism of rs1051741 ( = 5.28, = 0.02) or rs2234922 (= 6.71, = 0.01). Compared to individuals with rs1051741 CC or rs2234922 AA genotype in the drinkers, the risk of CBP in those carrying genotypes of rs1051741 CT+TT or rs2234922 AG+GG was decreased, respectively ( = 0.04, 〈0.01). Haplotype analysis of polymorphisms in showed that the risk of CBP was increased in the subjects with haplotype 2 (rs2854451-A, rs3738047-G, rs2234922-A, rs1051741-C) or haplotype 4 (rs2854451-G, rs3738047-A, rs2234922-G, rs1051741-T), but decreased in those with haplotype 6 (rs2854451-G, rs3738047-G, rs2234922-G, rs1051741-T) or haplotype 10 (rs2854451-A, rs3738047-A, rs2234922-G, rs1051741-T), respectively. Logistic regression analysis revealed that smoking might play a role in modifying the risk of CBP (OR = 0.313, 95% CI: 0.123 0.794, = 0.015). The genetic polymorphism in may be associated with the risk of CBP in the Chinese occupational population and further research is needed for the association between the genetic polymorphism in and the susceptibility to CBP.

关键词： case-control rs2854451 regression analysis haplotype further research

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Genetic Study Identifies CBLN4 as a Novel Susceptibility Gene for Accident Proneness

Shu-lin Zhang,Hui-qing Jin,Yang Song,Wan-sheng Yu,Liang-dan Sun

《工程管理前沿（英文）》 2016年第3卷第1期页码 30-38 doi: 10.15302/J-FEM-2016008

摘要： Frequent traffic accidents constitute a major danger to human beings. The accident-prone driver who has the stable physiological, psychological, and behavioral characteristics is one of the most prominent causes of traffic accidents. The internal link between the individual characteristics and the accident proneness has been a difficult point in the accident prevention research. The authors selected accident-prone drivers as cases and safe drivers as controls (case-control group) from 18,360 drivers who were enrolled from three public transportation incorporations of China using area stratified sampling method. The case-control groups were 1:1 matched. The authors performed genome-wide association study (GWAS) by 179 cases and 179 controls using the U.S. Affymetrix Genome-Wide Human Mapping SNP 6.0 Array. The authors observed that the gene frequencies of 34 single-nucleotide polymorphisms (SNPs) in three regions of cases were higher than those in the control ( <10 ). The authors then tested two independent replication sets for strong association 6 SNPs in 349 pairs of case-control drivers using the U.S. ABI 3730 sequencing method. The results indicated that SNP rs6069499 within linked CBLN4 gene are strongly associated with accident proneness ( =6.37×10 ). According to CBLN4 gene mainly involved in adrenal development and the regulation of secretion, the authors performed 12 biochemical parameters of the blood using radioimmunoassay. The levels of dopamine (DA) and adrenocorticotropic (ACTH) hormone showed significant differences between accident-prone drivers and safe drivers ( =0.03, =0.01). It is suggested that the accident-prone drivers may have the idiosyncrasy of susceptibility.

关键词： accident proneness genome-wide association study (GWAS) dopamine (DA) ACTH susceptibility gene traffic accident epidemiology accident prevention traffic safety three-dimensional model

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DQB1*060101 may contribute to susceptibility to immunoglobulin A nephropathy in southern Han Chinese

null

《医学前沿（英文）》 2016年第10卷第4期页码 507-516 doi: 10.1007/s11684-016-0475-6

摘要：

Immunoglobulin A nephropathy (IgAN) is a common form of chronic glomerulonephritis with unknown pathogenesis. Accumulating evidences have shown the ethnic-specific association between certain human leukocyte antigen (HLA) alleles and IgAN susceptibility. This study was designed to explore the relationship between HLA-DQB1 alleles and disease susceptibility and clinical manifestations of patients with IgAN in southern Han Chinese. A PCR sequence-based typing technique was used to detect HLA-DQB1 alleles in 217 IgAN patients and 229 healthy subjects. Clinical data were collected from each patient at the time of renal biopsy. Twenty HLA-DQB1 alleles were detected in IgAN patients and healthy subjects. High frequency of HLA-DQB1*060101 and low frequency of HLA-DQB1*030101 were observed in IgAN patients compared with healthy controls. Further stratification analysis revealed that the frequency of DQB1*060101 was significantly higher in patients with urine protein≥1.0 g/24 h than in patients with urine protein<1.0 g/24 h. In combination with our previous DRB1 results, we also analyzed the association of DRB1-DQB1 haplotypes with IgAN. We found that the frequency of haplotype DRB1*090102-DQB1*060101 was significantly higher [odds ratio (OR) = 4.409, Pc = 0.016], whereas that of HLA-DRB1*070101-DQB1*020101 was significantly lower (OR= 0.194, Pc = 0.016) compared with healthy controls. Our study indicated that HLA-DQB1*060101 alleles may be a potential predictor of high-risk IgAN susceptibility in Chinese Han population.

关键词： DQB1 human leukocyte antigen (HLA) IgA nephropathy haplotype association study

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U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control study in Chinese population

null

《医学前沿（英文）》 2015年第9卷第4期页码 478-486 doi: 10.1007/s11684-015-0420-0

摘要：

Telomeres play a critical role in biological ageing by maintaining chromosomal integrity and preventing chromosome ends fusion. Epidemiological studies have suggested that inter-individual differences of telomere length could affect predisposition to multiple cancers, but evidence regarding esophageal squamous cell carcinoma (ESCC) was still uncertain. Several telomere length-related single nucleotide polymorphisms (TL-SNPs) in Caucasians have been reported in genome-wide association studies. However, the effects of telomere length and TL-SNPs on ESCC development are unclear. Therefore, we conducted a case-control study (1045 ESCC cases and 1433 controls) to evaluate the associations between telomere length, TL-SNPs, and ESCC risk in Chinese population. As a result, ESCC cases showed overall shorter relative telomere length (RTL) (median: 1.34) than controls (median: 1.50, P<0.001). More interestingly, an evident nonlinear U-shaped association was observed between RTL and ESCC risk (P<0.001), with odds ratios (95% confidence interval) equal to 2.40 (1.84–3.14), 1.36 (1.03–1.79), 1.01 (0.76–1.35), and 1.37 (1.03–1.82) for individuals in the 1st (the shortest), 2nd, 3rd, and 5th (the longest) quintile, respectively, compared with those in the 4th quintile as reference group. No significant associations were observed between the eight reported TL-SNPs and ESCC susceptibility. These findings suggest that either short or extremely long telomeres may be risk factors for ESCC in the Chinese population.

关键词： esophageal squamous cell carcinoma telomere length genetic variants susceptibility genome-wide association study

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Is tailored therapy based on antibiotic susceptibility effective?

Jie Pan, Zhengchao Shi, Dingsai Lin, Ningmin Yang, Fei Meng, Lang Lin, Zhencheng Jin, Qingjie Zhou, Jiansheng Wu, Jianzhong Zhang, Youming Li

《医学前沿（英文）》 2020年第14卷第1期页码 43-50 doi: 10.1007/s11684-019-0706-8

摘要： An effective eradication therapy of ( ) should be used for the first time. In this study, we assessed whether tailored therapy based on antibiotic susceptibility testing is more effective than traditional therapy. We also evaluated the factors that cause treatment failure in high-resistance areas. For this multicenter trial, we recruited 467 -positive patients. The patients were randomly assigned to receive tailored triple therapy (TATT), tailored bismuth-containing quadruple therapy (TABQT), or traditional bismuth-containing quadruple therapy (TRBQT). For the TATT and TABQT groups, antibiotic selection proceeded via susceptibility testing using an agar-dilution test. The patients in the TRBQT group were given amoxicillin, clarithromycin, esomeprazole, and bismuth. Successful eradication was defined as a negative C-urea breath test at least eight weeks after the treatment ended. Susceptibility testing was conducted using an agar-dilution test. The eradication rate was examined via intention-to-treat (ITT) and per-protocol (PP) analyses. The clarithromycin, levofloxacin, and metronidazole resistance rates were 26.12%, 28.69%, and 96.79%, respectively. Resistance against amoxicillin and furazolidone was rare. The eradication rates for TATT, TRBQT, and TABQT were 67.32%, 63.69%, and 85.99% in the ITT analysis ( <0.001) and 74.64%, 68.49%, and 91.22% in the PP analysis ( <0.001), respectively. The efficacy of TABQT was affected by clarithromycin resistance, and bismuth exerted a direct influence on TATT failure. TABQT was the most efficacious regimen for use in high-resistance regions, especially among clarithromycin-susceptible patients.

关键词： tailored triple therapy tailored bismuth-containing quadruple therapy traditional bismuth-containing quadruple therapy antibiotic susceptibility testing eradication rates

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Susceptibility of male and female Japanese medaka (

Nannan LIU, Mei MA, Yiping XU, Jinmiao ZHA, Kaifeng RAO, Zijian WANG

《环境科学与工程前沿（英文）》 2013年第7卷第1期页码 77-84 doi: 10.1007/s11783-012-0466-z

摘要： 2,4,6-trichlorophenol (2,4,6-TCP) is a widespread probable human carcinogen and has been proven to have genotoxicity in assays. However, little genotoxicity information and no micronuclei induction data for 2,4,6-TCP is available from tests, especially for sex-specific differences. Following a preliminary test, a piscine peripheral erythrocyte micronucleus assay was conducted on medaka ( ) after a 28-day exposure to 2,4,6-TCP. In the present study, the mean micronuclei (MNC) frequencies of all of the groups increased in a dose-dependent manner, which indicated the potential genotoxicity of 2,4,6-TCP. Moreover, males were found to be more susceptible compared with females after a 28-day exposure to 2,4,6-TCP in all of the dosed groups above 10 μg·L . This is the first report on the potential of micronuclei induction and a sex-susceptible effect in the peripheral erythrocytes of mature fish after 2,4,6-TCP exposure.

关键词： 2 4 6-trichlorophenol genotoxicity Japanese medaka piscine micronucleus test in peripheral erythrocytes gender difference

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Functional XPF polymorphisms associated with lung cancer susceptibility in a Chinese population

Dian-Ke YU PhD, Chen WU MD, Wen TAN MD, Dong-Xin LIN MD,

《医学前沿（英文）》 2010年第4卷第1期页码 82-89 doi: 10.1007/s11684-010-0014-9

摘要： Variation of individuals’ DNA repair capacity has been linked to cancer susceptibility. The xeroderma pigmentsum group F (XPF) plays a pivotal role in nucleotide-excision repair (NER) pathway. This study was to examine the functional significance of promoter polymorphisms and their association with lung cancer risk. The function of promoter polymorphisms was tested by a set of biochemical assays, and their effects on lung cancer risk were determined by a case-control analysis of 988 patients with lung cancer and 986 controls. The −673T allele showed a significantly higher transcriptional activity as compared with the −673C allele. The −673TT genotype was associated with a decreased risk of lung cancer compared with the CC genotype (adjusted OR=0.62, 95% CI=0.42–0.91; =0.015) and this effect was more significant among males (adjusted OR=0.55, 95% CI=0.35–0.86; =0.009), elder subjects (adjusted OR=0.51, 95% CI=0.30–0.86; =0.012), and light smokers (adjusted OR=0.35, 95% CI=0.14–0.88; =0.026). These findings suggest that functional polymorphisms influencing DNA repair capacity may confer susceptibility to lung cancer.

关键词： XPF polymorphism lung cancer

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Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between

Na Qin, Yuancheng Li, Cheng Wang, Meng Zhu, Juncheng Dai, Tongtong Hong, Demetrius Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Gary Goodman, Stig E. Bojesen, Maria Teresa Landi, Mattias Johansson, Angela Risch, H-Erich Wichmann, Heike Bickeboller, Gadi Rennert, Susanne Arnold, Paul Brennan, John K. Field, Sanjay Shete, Loic Le Marchand, Olle Melander, Hans Brunnstrom, Geoffrey Liu, Rayjean J. Hung, Angeline Andrew, Lambertus A. Kiemeney, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Penella Woll, Philip Lazarus, Matthew B. Schabath, Melinda C. Aldrich, Victoria L. Stevens, Guangfu Jin, David C. Christiani, Zhibin Hu, Christopher I. Amos, Hongxia Ma, Hongbing Shen

《医学前沿（英文）》 2021年第15卷第2期页码 275-291 doi: 10.1007/s11684-020-0779-4

摘要： Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer (NSCLC) risk, biological mechanisms of these variants remain largely unknown. By integrating a large-scale genotype data of 15 581 lung adenocarcinoma (AD) cases, 8350 squamous cell carcinoma (SqCC) cases, and 27 355 controls, as well as multiple transcriptome and epigenomic databases, we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility variants. We identified 3064 credible risk variants for NSCLC, which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase I hypersensitive sites. Transcription factor enrichment analysis revealed that USF1 was AD-specific while CREB1 was SqCC-specific. Functional annotation and gene-based analysis implicated 894 target genes, including 274 specifics for AD and 123 for SqCC, which were overrepresented in somatic driver genes (ER=1.95, =0.005). Pathway enrichment analysis and Gene-Set Enrichment Analysis revealed that AD genes were primarily involved in immune-related pathways, while SqCC genes were homologous recombination deficiency related. Our results illustrate the molecular basis of both well-studied and new susceptibility loci of NSCLC, providing not only novel insights into the genetic heterogeneity between AD and SqCC but also a set of plausible gene targets for post-GWAS functional experiments.

关键词： lung cancer genome-wide association study function annotation immune homologous recombination repair deficiency genetic heterogeneity

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Research progress on genetic improvement of

Chuanping YANG

《农业科学与工程前沿（英文）》 2017年第4卷第4期页码 391-401 doi: 10.15302/J-FASE-2017183

摘要： Suk. is one of the most widely distributed species of , the fourth most valuable timber species in north-eastern China and also a common tree species for landscaping. Over the past 30 years, effective progress has been made in genetic improvement and molecular breeding of . There has been extensive research on breeding techniques, including the collection and conservation of germplasm resources, provenance trials, intensive breeding techniques, crossbreeding and asexual propagation techniques, ploidy breeding and mutation breeding technology, genome sequencing, gene cloning, transgenic and molecular mechanisms of wood formation. A germplasm resource collection has been established by collecting different provenances, and full-sib and half-sib families. In addition, the geographic variation patterns of provenances have been revealed, and the provenance division and superior provenance selections made. flowering and seeding have been improved through intensive breeding techniques. Interspecific hybridization, intraspecific hybridization and parallel crosses were made using fine parents, and intensive seed orchards have been established. Systems of asexual propagation, including cuttings, grafting and tissue culture have been established. A tetraploid was successfully constructed and a triploid seed orchard established. The growth, wood property and resistance genes of have been cloned. An efficient transgenic system mediated by was established, and genes encoding insect resistance, drought resistance and salt tolerance, lignin synthesis, flowering, hormone transport and balance obtained. molecular markers were developed and the high density genetic map constructed. All this research has provided a model and data for the foundation of forest genetic improvement and applied research.

关键词： Betula platyphylla genetic improvement molecular breeding seed orchard

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Optimal design of steel skeletal structures using the enhanced genetic algorithm methodology

Tugrul TALASLIOGLU

《结构与土木工程前沿（英文）》 2019年第13卷第4期页码 863-889 doi: 10.1007/s11709-019-0523-9

摘要： This study concerns with the design optimization of steel skeletal structures thereby utilizing both a real-life specification provisions and ready steel profiles named hot-rolled I sections. For this purpose, the enhanced genetic algorithm methodology named EGAwMP is utilized as an optimization tool. The evolutionary search mechanism of EGAwMP is constituted on the basis of generational genetic algorithm (GGA). The exploration capacity of EGAwMP is improved in a way of dividing an entire population into sub-populations and using of a radial basis neural network for dynamically adjustment of EGAwMP’s genetic operator parameters. In order to improve the exploitation capability of EGAwMP, the proposed neural network implementation is also utilized for prediction of more accurate design variables associating with a new design strategy, design codes of which are based on the provisions of LRFD_AISC V3 specification. EGAwMP is applied to determine the real-life ready steel profiles for the optimal design of skeletal structures with 105, 200, 444, and 942 members. EGAwMP accomplishes to increase the quality degrees of optimum designations Furthermore, the importance of using the real-life steel profiles and design codes is also demonstrated. Consequently, EGAwMP is suggested as a design optimization tool for the real-life steel skeletal structures.

关键词： design optimization genetic algorithm multiple populations neural network

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Genomics and genetic breeding in aquatic animals: progress and prospects

Wenteng XU, Songlin CHEN

《农业科学与工程前沿（英文）》 2017年第4卷第3期页码 305-318 doi: 10.15302/J-FASE-2017154

摘要： Genomics focuses on dissection of genome structure and function to provide a molecular basis for understanding the genetic background. In a pivotal step, the expense of whole genome sequencing has been largely eliminated by the rapid updating of sequencing technology, leading to increasing numbers of decoded genomes of aquatic organisms, driving the aquaculture industry into the genomic era. Multiple aquatic areas have been influenced by these findings, such as accelerated generation shift in the seed industry and the process of breeding improved lines. In this article, we have summarized the latest domestic and international progress of aquatic animals in nine aspects, including WGS and fine mapping, construction of high density genetic/physical maps, trait-related marker/genes screening, as well as sex control, genome editing, and other molecular breeding technologies. Finally, the existing problems in this field have been discussed and five future counter measures have been proposed accordingly.

关键词： aquaculture genomics genetic breeding progress

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Search-and-replace editing of genetic information

Yao LIU, Xingxu HUANG, Xiaolong WANG

《农业科学与工程前沿（英文）》 2020年第7卷第2期页码 231-232 doi: 10.15302/J-FASE-2020322

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Multi-objective genetic algorithms based structural optimization and experimental investigation of the

Pengxing YI,Lijian DONG,Tielin SHI

《机械工程前沿（英文）》 2014年第9卷第4期页码 354-367 doi: 10.1007/s11465-014-0319-5

摘要：

To improve the dynamic performance and reduce the weight of the planet carrier in wind turbine gearbox, a multi-objective optimization method, which is driven by the maximum deformation, the maximum stress and the minimum mass of the studied part, is proposed by combining the response surface method and genetic algorithms in this paper. Firstly, the design points’ distribution for the design variables of the planet carrier is established with the central composite design (CCD) method. Then, based on the computing results of finite element analysis (FEA), the response surface analysis is conducted to find out the proper sets of design variable values. And a multi-objective genetic algorithm (MOGA) is applied to determine the direction of optimization. As well, this method is applied to design and optimize the planet carrier in a 1.5 MW wind turbine gearbox, the results of which are validated by an experimental modal test. Compared with the original design, the mass and the stress of the optimized planet carrier are respectively reduced by 9.3% and 40%. Consequently, the cost of planet carrier is greatly reduced and its stability is also improved.

关键词： planet carrier multi-objective optimization genetic algorithms wind turbine gearbox modal experiment

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标题作者时间类型操作

Interplay between diet and genetic susceptibility in obesity and related traits

Tiange Wang, Min Xu, Yufang Bi, Guang Ning

期刊论文

Advancement in genetic variants conferring obesity susceptibility from genome-wide association studies

null

期刊论文

Association of the genetic polymorphism of EPHX1 and EPHX2 with the susceptibility to chronic benzene

SUN Pin, ZHANG Zhongbin, WU Fen, WAN Junxiang, JIN Xibeng, XIA Zhaolin

期刊论文

Genetic Study Identifies CBLN4 as a Novel Susceptibility Gene for Accident Proneness

Shu-lin Zhang,Hui-qing Jin,Yang Song,Wan-sheng Yu,Liang-dan Sun

期刊论文

DQB1*060101 may contribute to susceptibility to immunoglobulin A nephropathy in southern Han Chinese

null

期刊论文

U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control study in Chinese population

null

期刊论文

Is tailored therapy based on antibiotic susceptibility effective?

Jie Pan, Zhengchao Shi, Dingsai Lin, Ningmin Yang, Fei Meng, Lang Lin, Zhencheng Jin, Qingjie Zhou, Jiansheng Wu, Jianzhong Zhang, Youming Li

期刊论文

Susceptibility of male and female Japanese medaka (

Nannan LIU, Mei MA, Yiping XU, Jinmiao ZHA, Kaifeng RAO, Zijian WANG

期刊论文

Functional XPF polymorphisms associated with lung cancer susceptibility in a Chinese population

Dian-Ke YU PhD, Chen WU MD, Wen TAN MD, Dong-Xin LIN MD,

期刊论文

Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between

期刊论文

Research progress on genetic improvement of

Chuanping YANG

期刊论文

Optimal design of steel skeletal structures using the enhanced genetic algorithm methodology

Tugrul TALASLIOGLU

期刊论文

Genomics and genetic breeding in aquatic animals: progress and prospects

Wenteng XU, Songlin CHEN

期刊论文

Search-and-replace editing of genetic information

Yao LIU, Xingxu HUANG, Xiaolong WANG

期刊论文

Multi-objective genetic algorithms based structural optimization and experimental investigation of the

Pengxing YI,Lijian DONG,Tielin SHI

期刊论文

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