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Ozone Emitted During Copying Process-A Potential Cause of Pathological Oxidative Stress and Potential Oxidative Damage in the Bodies of Operators 被引量:12
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作者 JUN-FUZHOU WEI-WEICHEN GUI-ZHONGTONG 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2003年第2期95-104,共10页
To estimate the impact of copying on the indoor air quality, and to investigate whether ozone emitted during such a process induces pathological oxidative stress and potential oxidative damage in the bodies of operato... To estimate the impact of copying on the indoor air quality, and to investigate whether ozone emitted during such a process induces pathological oxidative stress and potential oxidative damage in the bodies of operators. Methods 67 copying operators (CO) and 67 healthy volunteers (HV) were enrolled in a random control study, in which levels of lipoperoxide (LPO) in plasma and erythrocytes, and levels of vitamin C (VC), vitamin E (VE) and b-carotene (b-CAR) in plasma as well as activities of superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPX) in erythrocytes were determined by spectrophotometric methods. Results Compared with the HV group, the average values of LPO in plasma and erythrocytes in the CO group were significantly increased (P<0.0001), while those of VC, VE and b-CAR in plasma as well as those of SOD, CAT and GPX in erythrocytes in the CO group were significantly decreased (P<0.0001). Pearson product-moment correlation analysis showed that with increase of ozone level in copying sites and duration of exposure to ozone, the values of LPO in plasma and erythrocytes in the bodies of operators were gradually increased,while those of VC, VE, b-CAR, SOD, CAT and GPX were decreased in the same manner. Odds ratio (OR) of risk of biochemical parameters reflecting potential oxidative damage of the copying operators ranged from 4.440 to 13.516, and 95 % CI of OR was from 2.113 to 34.061. Reliability coefficient () of the biochemical parameters used to reflect the potential oxidative damage of the operators was 0.8156, standardized item =0.9929, P<0.0001. Conclusion Findings in the present study suggest that there exist a series of free radical chain reactions and pathological oxidative stress induced by high dose ozone in the operators, thereby causing potential oxidative and lipoperoxidative damages in their bodies. 展开更多
关键词 OZONE Oxidation LIPOPEROXIDATION Antioxidant Antioxidase Oxidative stress Oxidative damage copying copying operators Copier
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STUDY ON COPYING QUALITY IN CONTOUR GRINDING
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作者 Wang Wanshan Wang Bo +1 位作者 Lu Shubin Shan Ruilan(Northeastern University)Guo Changsheng(University of Massachusetts, U .S.A.) 《Chinese Journal of Mechanical Engineering》 SCIE EI CAS CSCD 1995年第1期47-50,共17页
A criterion is proposed to the feasibility on radial copying grinding, i.e.the pressure angleapplying to a point on the workpiece contour to be profiled should be smaller than its angle limit.Therefore, the expression... A criterion is proposed to the feasibility on radial copying grinding, i.e.the pressure angleapplying to a point on the workpiece contour to be profiled should be smaller than its angle limit.Therefore, the expressions of the angle applying to copying grinding and the angle limit to copyingmechanism are derived, with the measures taken for the quality improvement of copying movementin contour grinding discussed. 展开更多
关键词 copying grinding Pressure angle in copying Angle limit
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Entanglement Preserving in Quantum Copying of Three-Qubit Entangled State
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作者 TONG Zhao-Yang KUANG Le-Man 《Communications in Theoretical Physics》 SCIE CAS CSCD 2002年第11期541-546,共6页
We study the degree to which quantum entanglement survives when a three-qubit entangled state iscopied by using local and non-local processes, respectively, and investigate iterating quantum copyingfor the three-qubit... We study the degree to which quantum entanglement survives when a three-qubit entangled state iscopied by using local and non-local processes, respectively, and investigate iterating quantum copyingfor the three-qubitsystem. There may exist inter-three-qubit entanglement and inter-two-qubit entanglement for the three-qubit system.We show that both local and non-local copying processes degrade quantum entanglement in the three-particle systemdue to a residual correlation between the copied output and the copying machine. We also show that the inter-two-qubitentanglement is preserved better than the inter-three-qubit entanglement in the local cloning process. We find thatnon-local cloning is much more efficient than the local copying for broadcasting entanglement, and output state vianon-local cloning exhibits the fidelity better than local cloning. 展开更多
关键词 ENTANGLED states QUANTUM entanglement QUANTUM copying
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Entanglement Preserving in Quantum Copying of Three-Qubit Entangled State
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作者 TONGZhao-Yang KUANGLe-Man 《Communications in Theoretical Physics》 SCIE CAS CSCD 2002年第5期541-546,共6页
We study the degree to which quantum entanglement survives when a three-qubit entangled state iscopied by using local and non-local processes, respectively, and investigate iterating quantum copyingfor the three-qubit... We study the degree to which quantum entanglement survives when a three-qubit entangled state iscopied by using local and non-local processes, respectively, and investigate iterating quantum copyingfor the three-qubitsystem. There may exist inter-three-qubit entanglement and inter-two-qubit entanglement for the three-qubit system.We show that both local and non-local copying processes degrade quantum entanglement in the three-particle systemdue to a residual correlation between the copied output and the copying machine. We also show that the inter-two-qubitentanglement is preserved better than the inter-three-qubit entanglement in the local cloning process. We find thatnon-local cloning is much more efficient than the local copying for broadcasting entanglement, and output state vianon-local cloning exhibits the fidelity better than local cloning. 展开更多
关键词 entangled states quantum entanglement quantum copying
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Motion-copying method with symbol sequence-based phase switch control for intelligent optical manufacturing
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作者 Yutang Wang Dapeng Tian +2 位作者 Haixiang Hu Yan Li Shiquan Ni 《Light(Advanced Manufacturing)》 2024年第2期1-13,共13页
Implementation of robot-based motion control in optical machining demonstrably enhances the machining quality.The introduction of motion-copying method enables learning and replicating manipulation from experienced te... Implementation of robot-based motion control in optical machining demonstrably enhances the machining quality.The introduction of motion-copying method enables learning and replicating manipulation from experienced technicians.Nevertheless,the location uncertainties of objects and frequent switching of manipulated spaces in practical applications impose constraints on their further advancement.To address this issue,a motion-copying system with a symbol-sequence-based phase switch control(SSPSC)scheme was developed by transferring the operating skills and intelligence of technicians to mechanisms.The manipulation process is decomposed,symbolised,rearranged,and reproduced according to the manufacturing characteristics regardless of the change in object location.A force-sensorless adaptive sliding-mode-assisted reaction force observer(ASMARFOB),wherein a novel dual-layer adaptive law was designed for high-performance fine force sensing,was established.The uniformly ultimate boundedness(UUB)of the ASMARFOB is guaranteed based on the Lyapunov stability theory,and the switching stability of the SSPSC was examined.Validation simulations and experiments demonstrated that the proposed method enables better motion reproduction with high consistency and adaptability.The findings of this study can provide effective theoretical and practical guidance for high-precision intelligent optical manufacturing. 展开更多
关键词 Intelligent optical manufacturing Motion copy Uncertain environments Phase switch control Reaction force observer
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Genome-wide investigation to assess copy number variants in the Italian local chicken population 被引量:1
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作者 Filippo Cendron Martino Cassandro Mauro Penasa 《Journal of Animal Science and Biotechnology》 SCIE CAS CSCD 2024年第2期563-577,共15页
Background Copy number variants(CNV)hold significant functional and evolutionary importance.Numerous ongoing CNV studies aim to elucidate the etiology of human diseases and gain insights into the population structure ... Background Copy number variants(CNV)hold significant functional and evolutionary importance.Numerous ongoing CNV studies aim to elucidate the etiology of human diseases and gain insights into the population structure of livestock.High-density chips have enabled the detection of CNV with increased resolution,leading to the identification of even small CNV.This study aimed to identify CNV in local Italian chicken breeds and investigate their distribution across the genome.Results Copy number variants were mainly distributed across the first six chromosomes and primarily associated with loss type CNV.The majority of CNV in the investigated breeds were of types 0 and 1,and the minimum length of CNV was significantly larger than that reported in previous studies.Interestingly,a high proportion of the length of chromosome 16 was covered by copy number variation regions(CNVR),with the major histocompatibility complex being the likely cause.Among the genes identified within CNVR,only those present in at least five animals across breeds(n=95)were discussed to reduce the focus on redundant CNV.Some of these genes have been associated to functional traits in chickens.Notably,several CNVR on different chromosomes harbor genes related to muscle development,tissue-specific biological processes,heat stress resistance,and immune response.Quantitative trait loci(QTL)were also analyzed to investigate potential overlapping with the identified CNVR:54 out of the 95 gene-containing regions overlapped with 428 QTL associated to body weight and size,carcass characteristics,egg production,egg components,fat deposition,and feed intake.Conclusions The genomic phenomena reported in this study that can cause changes in the distribution of CNV within the genome over time and the comparison of these differences in CNVR of the local chicken breeds could help in preserving these genetic resources. 展开更多
关键词 CHICKEN Copy number variant CONSERVATION Local breed SNP
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Single-crystallization of electrolytic copper foils 被引量:1
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作者 Xingguang Li Mengze Zhao +13 位作者 Quanlin Guo Chong Zhao Mingchao Ding Dingxin Zou Zhiqiang Ding Zhiqiang Zhang Menglin He Kehai Liu Muhong Wu Zhihong Zhang Enge Wang Ying Fu Kaihui Liu Zhibin Zhang 《Journal of Materials Science & Technology》 SCIE EI CAS CSCD 2024年第9期112-118,共7页
Depending on the production process,copper(Cu)foils can be classified into two types,i.e.,rolled copper(r-Cu)foils and electrolytic copper(e-Cu)foils.Owing to their high electrical conductivity and ductility at low co... Depending on the production process,copper(Cu)foils can be classified into two types,i.e.,rolled copper(r-Cu)foils and electrolytic copper(e-Cu)foils.Owing to their high electrical conductivity and ductility at low cost,e-Cu foils are employed extensively in modern industries and account for more than 98%of the Cu foil market share.However,industrial e-Cu foils have never been single-crystallized due to their high density of grain boundaries,various grain orientations and vast impurities originating from the electrochemical deposition process.Here,we report a methodology of transforming industrial e-Cu foils into single crystals by facet copy from a single-crystal template.Different facets of both low and high indices are successfully produced,and the thickness of the single crystal can reach 500μm.Crystallographic characterizations directly recognized the single-crystal copy process,confirming the complete assimilation impact from the template.The obtained single-crystal e-Cu foils exhibit remarkably improved ductility(elongation-to-fracture of 105%vs.25%),fatigue performance(the average numbers of cycles to failure of 1600 vs.200)and electrical property(electrical conductivity of 102.6%of the international annealed copper standard(IACS)vs.98.5%)than original ones.This work opens up a new avenue for the preparation of single-crystal e-Cu foils and may expand their applications in high-speed,flexible,and wearable devices. 展开更多
关键词 Electrolytic copper foil Single-crystallization Facet copy Grain growth Mechanical property
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Mate-choice copying: Status quo and where to go 被引量:4
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作者 Klaudia WITTE Nina KNIEL Ilka Maria KURECK 《Current Zoology》 SCIE CAS CSCD 2015年第6期1073-1081,共9页
Mate-choice copying is a fascinating and widespread mate-choice strategy. Individuals gather public information about potential mates by observing others during sexual interactions and choose or reject the same indivi... Mate-choice copying is a fascinating and widespread mate-choice strategy. Individuals gather public information about potential mates by observing others during sexual interactions and choose or reject the same individual as a mate as the observed individual did before. The influence of copying behavior on an individual's mate choice can be so strong that socially acquired information can override genetically based preferences for certain phenotypes. Thus, mate-choice copying enforces dy- namic processes in sexual selection. Here, we review the current state of research on mate-choice copying and focus on sex-specific aspects. We present evidence that mate-choice copying can support the evolution of novel sexual ornaments, and we discuss potential costs of mate-choice copying when public information is not reliable. Moreover, we discuss the conflict faced by males that copy since mate-choice copying increases sperm competition. In conclusion we suggest interesting topics for future research in mate-choice copying . 展开更多
关键词 Mate-choice copying Public information Audience effect Sperm competition Novel ornaments
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Sperm function, mitochondrial activity and in vivo fertility are associated to their mitochondrial DNA content in pigs
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作者 Marc Llavanera Yentel Mateo‑Otero +2 位作者 Estel Vinolas‑Vergés Sergi Bonet Marc Yeste 《Journal of Animal Science and Biotechnology》 SCIE CAS CSCD 2024年第4期1550-1558,共9页
Background Despite their low abundance in sperm, mitochondria have diverse functions in this cell type, includ-ing energy production, signalling and calcium regulation. In humans, sperm mitochondrial DNA content(mtDNA... Background Despite their low abundance in sperm, mitochondria have diverse functions in this cell type, includ-ing energy production, signalling and calcium regulation. In humans, sperm mitochondrial DNA content(mtDNAc) has been reported to be negatively linked to sperm function and fertility. Yet, the association between mtDNAc and sperm function in livestock remains unexplored. For this reason, this study aimed to shed some light on the link between mtDNAc and sperm function and fertilising potential in pigs. A qPCR method for mtDNAc quantification was optimised for pig sperm, and the association of this parameter with sperm motility, kinematics, mitochondrial activity, and fertility was subsequently interrogated.Results First, the q PCR method was found to be sensitive and efficient for mtDNAc quantification in pig sperm. By using this technique, mtDNAc was observed to be associated to sperm motility, mitochondrial activity and in vivo, but not in vitro, fertility outcomes. Specifically, sperm with low mtDNAc were seen to exhibit greater motility but decreased mitochondrial activity and intracellular reactive oxygen species. Interestingly, samples with lower mtD-NAc showed higher conception and farrowing rates, but similar in vitro fertilisation rates and embryo development, when compared to those with greater mtDNAc.Conclusions These findings enrich our comprehension of the association of mtDNAc with sperm biology, and lay the foundation for future research into employing this parameter as a molecular predictor for sperm function and fer-tility in livestock. 展开更多
关键词 FERTILITY MITOCHONDRIA MOTILITY mtDNA copy number qPCR SPERM
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Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease
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作者 Han Gao Xianghui Huang +15 位作者 Weicheng Chen Zhiyu Feng Zhengshan Zhao Ping Li Chaozhong Tan Jinxin Wang Quannan Zhuang Yuan Gao Shaojie Min Qinyu Yao Maoxiang Qian Xiaojing Ma Feizhen Wu Weili Yan Wei Sheng Guoying Huang 《Chinese Medical Journal》 SCIE CAS CSCD 2024年第15期1823-1834,共12页
Background:Heterotaxy(HTX)is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease(CHD).The aim of this study was to analyze rare copy number variations(CNVs)in a HTX/CHD cohor... Background:Heterotaxy(HTX)is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease(CHD).The aim of this study was to analyze rare copy number variations(CNVs)in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/CHD.Methods:Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients,and available samples from parents were used to confirm the inheritance pattern.Potential candidate genes in CNVs region were prioritized via the DECIPHER database,and PNPLA4 was identified as the leading candidate gene.To validate,we generated PNPLA4-overexpressing human induced pluripotent stem cell lines as well as pnpla4-overexpressing zebrafish model,followed by a series of transcriptomic,biochemical and cellular analyses.Results:Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients(12.5%).Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort,and PNPLA4 in the Xp22.31 was a candidate gene associated with HTX/CHD.PNPLA4 is expressed in the lateral plate mesoderm,which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation,and in the neural crest cell lineage.Through a series of in vivo and in vitro analyses at the molecular and cellular levels,we revealed that the biological function of PNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP production.Conclusions:Our findings demonstrated a significant association between CNVs and HTX/CHD.Our data strongly suggested that an increased genetic dose of PNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD. 展开更多
关键词 PNPLA4 Copy number variations X-CHROMOSOME HETEROTAXY Congenital heart diseases
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Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism:Two case reports
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作者 Fei Hou Yan Li Hua Jin 《World Journal of Clinical Cases》 SCIE 2024年第8期1544-1548,共5页
BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.... BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women. 展开更多
关键词 Trisomy 7 mosaicism Copy number variation sequencing Whole-exome sequencing Karyotype analysis Prenatal diagnosis Case report
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Demonstrating mate choice copying in spiders requires further research
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作者 R.Tucker GILMAN Kasey FOWLER-FINN Eileen A.HEBETS 《Current Zoology》 SCIE CAS CSCD 2020年第2期215-216,共2页
Mate choice copying-when individuals learn to prefer mates or mate types that have been chosen by others-can influence trait evo-lution and speciation(Varela et al.2018;Dion et al.2019).Most examples of mate choice co... Mate choice copying-when individuals learn to prefer mates or mate types that have been chosen by others-can influence trait evo-lution and speciation(Varela et al.2018;Dion et al.2019).Most examples of mate choice copying are from fish,birds,and mammals including humans(Varela et al.2018).However,2 invertebrate examples-fruit flies and wolf spiders-have been used to argue that the phenomenon may be phylogenetically widespread,and perhaps the rule rather than the exception in nature(Varela et al.2018).Here,we revisit the evidence for mate choice copying in wolf spiders(Fowler-Fimn et al.2015)in light of new data(Gilman et al.2018).Then,we discuss why mate choice copying is a phenomenon that is likely to occur in wolf spiders,and why this deserves attention. 展开更多
关键词 invertebrates MATE CHOICE copying Schizocosa sexual SELECTION SPECIATION spiders
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Deciphering the role of FSCN family genes in cancer:a pan-cancer bioinformatics study
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作者 Wen-Shuai Zhang Dan-Yang Ren Xin Li 《Medical Data Mining》 2024年第4期10-18,共9页
Background:The Fascin(FSCN)family,comprising actin-bundling proteins,plays vital roles in cytoskeletal reorganization and cell migration.FSCN1,FSCN2,and FSCN3 are implicated in cancer progression through cell motility... Background:The Fascin(FSCN)family,comprising actin-bundling proteins,plays vital roles in cytoskeletal reorganization and cell migration.FSCN1,FSCN2,and FSCN3 are implicated in cancer progression through cell motility,invasion,and metastasis.However,their specific contributions across different cancer types remain unclear.Methods:We conducted a pan-cancer bioinformatics analysis of FSCN genes using data from The Cancer Genome Atlas.This included differential expression patterns,copy number variations(CNVs),mutations,methylation status,and correlations with tumor mutational burden,microsatellite instability,and immune checkpoint molecule expression.Differential expression was analyzed using DESeq2,while CNV and mutation analyses utilized GISTIC2.0 and MuTect2.Methylation data were assessed using the Illumina Human Methylation 450K BeadChip.Results:FSCN1 and FSCN2 showed significant differential expression in multiple cancers,often correlating with poor prognosis.FSCN3 exhibited less variability but a protective role in certain contexts.CNV analysis indicated frequent gene gains in FSCN genes,correlating with increased expression.FSCN3 had a higher mutation rate,suggesting genetic instability.Methylation analysis showed hypomethylation of FSCN1 and FSCN2 in tumors compared to normal tissues,whereas FSCN3 had minor changes.Significant associations were found between FSCN gene expression and tumor mutational burden,microsatellite instability,and immune checkpoint molecules,suggesting their involvement in tumor immunogenicity and the immune microenvironment.Conclusions:This pan-cancer analysis highlights the multifaceted roles of FSCN genes in cancer biology,emphasizing their potential as biomarkers and therapeutic targets.FSCN1 and FSCN2 are associated with poor prognosis and aggressive phenotypes,while FSCN3 shows protective roles in specific contexts.These findings offer new avenues for cancer diagnosis and treatment,particularly in personalized medicine.Future studies should validate these findings and explore the underlying mechanisms to fully harness the clinical potential of FSCN family proteins in oncology. 展开更多
关键词 Fascin family pan-cancer analysis gene expression copy number variation tumor mutational burden
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Relationship Between Gene-Phenotype and Clinical Manifestations of Chromosomal Copy Number Variations Indicated by Non-Invasive Prenatal Testing
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作者 Zixin Pi Xiaoyan Duan +1 位作者 Jing Peng Yanhui Liu 《Journal of Clinical and Nursing Research》 2024年第1期88-95,共8页
Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of... Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs. 展开更多
关键词 Non-invasive prenatal testing Chromosomal copy number variation Chromosomes 1 and 3 Chromosome 4 Chromosome 7 Chromosome 15 Prenatal diagnosis
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Copying La Tomatina
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《Beijing Review》 2009年第33期46-47,共2页
In order to celebrate its second anniversary,a shopping center in Guiyang,capital of southwest China’s Guizhou Province,organized a tomato fight on July 20.The idea was based on the famed tomato festivalin Spain.
关键词 copying La Tomatina LA
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Insights into the genetic architecture of congenital heart disease from animal modeling 被引量:2
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作者 Wenjuan Zhu Cecilia W.Lo 《Zoological Research》 SCIE CAS CSCD 2023年第3期577-590,共14页
Congenital heart disease(CHD)is observed in up to 1%of live births and is one of the leading causes of mortality from birth defects.While hundreds of genes have been implicated in the genetic etiology of CHD,their rol... Congenital heart disease(CHD)is observed in up to 1%of live births and is one of the leading causes of mortality from birth defects.While hundreds of genes have been implicated in the genetic etiology of CHD,their role in CHD pathogenesis is still poorly understood.This is largely a reflection of the sporadic nature of CHD,as well as its variable expressivity and incomplete penetrance.We reviewed the monogenic causes and evidence for oligogenic etiology of CHD,as well as the role of de novo mutations,common variants,and genetic modifiers.For further mechanistic insight,we leveraged single-cell data across species to investigate the cellular expression characteristics of genes implicated in CHD in developing human and mouse embryonic hearts.Understanding the genetic etiology of CHD may enable the application of precision medicine and prenatal diagnosis,thereby facilitating early intervention to improve outcomes for patients with CHD. 展开更多
关键词 Congenital heart disease Genetic modifier Single cell sequencing De novo mutation Protective variant Common copy number variant
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De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family
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作者 Shuang Zhang Hai-Ming Yong +4 位作者 Gang Zou Mei-Jiao Ma Xue Rui Shang-Ying Yang Xun-Lun Sheng 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2023年第12期1952-1961,共10页
AIM:To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32.METHODS:A family with familial exudative vitreoretinopathy(FEVR)phenotype was i... AIM:To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32.METHODS:A family with familial exudative vitreoretinopathy(FEVR)phenotype was included in the study.Whole-exome sequencing(WES)was initially used to locate copy number variations(CNVs)on 7q31.31-31.32,but failed to detect the precise breakpoint.The long-read sequencing,Oxford Nanopore sequencing Technology(ONT)was used to get the accurate breakpoint which is verified by quantitative real-time polymerase chain reaction(QPCR)and Sanger Sequencing.RESULTS:The proband,along with her father and younger brother,were found to have a heterozygous 4.5 Mb CNV deletion located on 7q31.31-31.32,which included the FEVRrelated gene TSPAN12.The specific deletion was confirmed as del(7)(q31.31q31.32)chr7:g.119451239_123956818del.The proband exhibited a phase 2A FEVR phenotype,characterized by a falciform retinal fold,macular dragging,and peripheral neovascularization with leaking of fluorescence.These symptoms led to a significant decrease in visual acuity in both eyes.On the other hand,the affected father and younger brother showed a milder phenotype.CONCLUSION:The heterozygous CNV deletion located on 7q31.31-7q31.32 is associated with the FEVR phenotype.The use of long-read sequencing techniques is essential for accurate molecular diagnosis of genetic disorders. 展开更多
关键词 familial exudative vitreoretinopathy copy number variation copy number deletion TSPAN12 longread sequencing
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Fertility,genome stability,and homozygosity in a diverse set of resynthesized rapeseed lines
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作者 Elizabeth Ihien Katche Antje Schierholt +2 位作者 Heiko C.Becker Jacqueline Batley Annaliese S.Mason 《The Crop Journal》 SCIE CSCD 2023年第2期468-477,共10页
Rapeseed(Brassica napus,AACC)was formed by hybridization between progenitor species Brassica rapa(AA)and Brassica oleracea(CC).As a result of a limited number of hybridization events between specific progenitor genoty... Rapeseed(Brassica napus,AACC)was formed by hybridization between progenitor species Brassica rapa(AA)and Brassica oleracea(CC).As a result of a limited number of hybridization events between specific progenitor genotypes and strong breeding selection for oil quality traits,rapeseed has limited genetic diversity.The production of resynthesized B.napus lines via interspecific hybridization of the diploid progenitor species B.rapa and B.oleracea is one possible way to increase genetic variation in rapeseed.However,most resynthesized lines produced so far have been reported to be meiotically unstable and infertile,in contrast to established B.napus cultivars.This hinders both maintenance and use of this germplasm in breeding programs.We characterized a large set of 140 resynthesized lines produced by crosses between B.rapa and B.oleracea,as well as between B.rapa and wild C genome species(B.incana,B.hilarionis,B.montana,B.Bourgeaui,B.villosa and B.cretica)for purity(homozygosity),fertility,and genome stability.Self-pollinated seed set,seeds per ten pods as well as percentage pollen viability were used to estimate fertility.SNP genotyping was performed using the Illumina Infinium Brassica 60K array for 116 genotypes,with at least three individuals per line.Most of the material which had been advanced through multiple generations was no longer pure,with heterozygosity detected corresponding to unknown parental contributions via outcrossing.Fertility and genome stability were both genotypedependent.Most lines had high numbers of copy number variants(CNVs),indicative of meiotic instability,and high numbers of CNVs were significantly associated with reduced fertility.Eight putatively stable resynthesized B.napus lines were observed.Further investigation of these lines may reveal the mechanisms underlying this effect.Our results suggest that selection of stable resynthesized lines for breeding purposes is possible. 展开更多
关键词 FERTILITY Genome stability Copy number variants SNP genotyping Resynthesized lines
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Copy number variation of B1 controls awn length in wheat
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作者 Jinlong Li Xin Xin +11 位作者 Fangyao Sun Zhenzhen Zhu Xiangru Xu Jiatian Yang Xiaoming Xie Jiazheng Yu Xiaobo Wang Sen Li Shilin Tian Baoyun Li Chaojie Xie Jun Ma 《The Crop Journal》 SCIE CSCD 2023年第3期817-824,共8页
Wheat awns contribute to photosynthesis and grain production.In this study,an F2population and F2:3families from a cross between the awned line 7D12 and the Chinese awnless variety Shiyou 20(SY20)were used to identify... Wheat awns contribute to photosynthesis and grain production.In this study,an F2population and F2:3families from a cross between the awned line 7D12 and the Chinese awnless variety Shiyou 20(SY20)were used to identify loci associated with awn length.Bulked-segregant RNA sequencing and linkage mapping identified a single dominant locus in a 0.3 cM interval on chromosome 5AL.Five genes were in the interval,including the recently cloned awn inhibitor B1.Although a single copy of the B1 gene was detected in 7D12,SY20 carried five copies of the gene.Increased copy number of B1 in SY20enhanced gene expression.Based on sequence variation among the promoter regions of five B1 gene copies in SY20,two dominant markers were developed and found to cosegregate with B1 in a population of 931 wheat accessions.All 77 awnless accessions harbored sequence variations in the B1 promoter regions similar to those of SY20 and thus carried multiple copies of the gene,whereas 15 randomly selected awned wheats carried only one copy.These results suggest that an increase in copy number of the B1 gene is associated with inhibition of awn length. 展开更多
关键词 WHEAT Awn Awnless B1 gene Copy number variation
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Benchmark Dose Assessment for Coke Oven Emissions-Induced Mitochondrial DNA Copy Number Damage Effects
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作者 YAN Zhao Fan GU Zhi Guang +8 位作者 FAN Ya Hui LI Xin Ling NIU Ze Ming DUAN Xiao Ran Mallah Ali Manthar ZHANG Qiao YANG Yong Li YAO Wu WANG Wei 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2023年第6期490-500,共11页
Objective The study aimed to estimate the benchmark dose(BMD)of coke oven emissions(COEs)exposure based on mitochondrial damage with the mitochondrial DNA copy number(mtDNAcn)as a biomarker.Methods A total of 782 subj... Objective The study aimed to estimate the benchmark dose(BMD)of coke oven emissions(COEs)exposure based on mitochondrial damage with the mitochondrial DNA copy number(mtDNAcn)as a biomarker.Methods A total of 782 subjects were recruited,including 238 controls and 544 exposed workers.The mtDNAcn of peripheral leukocytes was detected through the real-time fluorescence-based quantitative polymerase chain reaction.Three BMD approaches were used to calculate the BMD of COEs exposure based on the mitochondrial damage and its 95%confidence lower limit(BMDL).Results The mtDNAcn of the exposure group was lower than that of the control group(0.60±0.29 vs.1.03±0.31;P<0.001).A dose-response relationship was shown between the mtDNAcn damage and COEs.Using the Benchmark Dose Software,the occupational exposure limits(OELs)for COEs exposure in males was 0.00190 mg/m^(3).The OELs for COEs exposure using the BBMD were 0.00170 mg/m^(3)for the total population,0.00158 mg/m^(3)for males,and 0.00174 mg/m^(3)for females.In possible risk obtained from animal studies(PROAST),the OELs of the total population,males,and females were 0.00184,0.00178,and 0.00192 mg/m^(3),respectively.Conclusion Based on our conservative estimate,the BMDL of mitochondrial damage caused by COEs is0.002 mg/m^(3).This value will provide a benchmark for determining possible OELs. 展开更多
关键词 Coke oven emissions Mitochondrial DNA copy number Benchmark dose Occupational exposure limits
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