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Mechanism of Guangdong Shenqu in regulating intestinal flora in mice with food stagnation and internal heat based on 16S rDNA sequencing 被引量:1
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作者 Yani Jiang Zhenhong Zhang +5 位作者 Han Chen Yanmin Wang Yanrui Xu Zijie Chen Yan Xu Jingjuan Wang 《Journal of Traditional Chinese Medical Sciences》 CAS 2024年第2期232-244,共13页
Objective:To investigate the effect of Guangdong Shenqu(GSQ)on intestinal flora structure in mice with food stagnation through 16S rDNA sequencing.Methods: Mice were randomly assigned to control,model,GSQ low-dose(GSQ... Objective:To investigate the effect of Guangdong Shenqu(GSQ)on intestinal flora structure in mice with food stagnation through 16S rDNA sequencing.Methods: Mice were randomly assigned to control,model,GSQ low-dose(GSQL),GSQ medium-dose(GSQM),GSQ high-dose(GSQH),and lacidophilin tablets(LAB)groups,with each group containing 10 mice.A food stagnation and internal heat mouse model was established through intragastric administration of a mixture of beeswax and olive oil(1:15).The control group was administered normal saline,and the model group was administered beeswax and olive oil to maintain a state.The GSQL(2 g/kg),GSQM(4 g/kg),GSQH(8 g/kg),and LAB groups(0.625 g/kg)were administered corresponding drugs for 5 d.After administration,16S rDNA sequencing was performed to assess gut microbiota in mouse fecal samples.Results: The model group exhibited significant intestinal flora changes.Following GSQ administration,the abundance and diversity index of the intestinal flora increased significantly,the number of bacterial species was regulated,andαandβdiversity were improved.GSQ administration increased the abundance of probiotics,including Clostridia,Lachnospirales,and Lactobacillus,whereas the abundance of conditional pathogenic bacteria,such as Allobaculum,Erysipelotrichaceae,and Bacteroides decreased.Functional prediction analysis indicated that the pathogenesis of food stagnation and GSQ intervention were primarily associated with carbohydrate,lipid,and amino acid metabolism,among other metabolic pathways.Conclusion: The digestive mechanism of GSQ may be attributed to its role in restoring diversity and abundance within the intestinal flora,thereby improving the composition and structure of the intestinal flora in mice and subsequently influencing the regulation of metabolic pathways. 展开更多
关键词 Guangdong Shenqu Food stagnation Gut microbiota high-throughput gene sequencing Species annotation Metabolic pathway
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Differential mRNA expression profiling of oral squamous cell carcinoma by high-throughput RNA sequencing 被引量:4
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作者 Liangyu Ge Siyu Liu +3 位作者 Long Xie Lei Sang Changyan Ma Hongwei Li 《The Journal of Biomedical Research》 CAS CSCD 2015年第5期397-404,共8页
Differentially expressed genes are thought to regulate the development and progression of oral squamous cell carcinomas (OSCC). The purpose of this study was to screen differentially expressed mRNAs in OSCC and matc... Differentially expressed genes are thought to regulate the development and progression of oral squamous cell carcinomas (OSCC). The purpose of this study was to screen differentially expressed mRNAs in OSCC and matched paraneoplastic normal tissues, and to explore the intrinsic mechanism of OSCC development and progres- sion. We obtained the differentially expressed mRNA expression profiles in 10 pairs of fresh-frozen OSCC tissue specimens and matched paraneoplastic normal tissue specimens by high-throughput RNA sequencing. By using Gene Ontology enrichment analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses, the functional significance of the differentially expressed genes were analyzed. We identified 1,120 sig- nificantly up-regulated mRNAs and 178 significantly down-regulated mRNAs in OSCC, compared to normal tissue. The differentially expressed mRNAs were involved in 20 biological processes and 68 signal pathways. Compared to adjacent normal tissue, the expression of MAGEAll was up-regulated; TCHH was down-regulated. These find- ings were verified by real-time PCR. These differentially expressed mRNAs may function as oncogenes or tumor suppressors in the development and progression of OSCC. This study provides novel insights into OSCC. However, further work is needed to determine if these differentially expressed mRNAs have potential roles as diagnostic bio- markers and candidate therapeutic targets for OSCC. 展开更多
关键词 oral squamous cell carcinoma high-throughput RNA sequencing MRNA gene Ontology KEGG pathway
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Inhibition effect of magnetic field on nitrous oxide emission from sequencing batch reactor treating domestic wastewater at low temperature 被引量:9
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作者 Dan Xu Hongmin Ji +3 位作者 Hongqiang Ren Jinju Geng Kan Li Ke Xu 《Journal of Environmental Sciences》 SCIE EI CAS CSCD 2020年第1期205-212,共8页
This study aims to investigate the effect of a magnetic field on nitrous oxide(N2O)emission from a sequencing batch reactor treating low-strength domestic wastewater at low temperature(10℃).After running for 124 days... This study aims to investigate the effect of a magnetic field on nitrous oxide(N2O)emission from a sequencing batch reactor treating low-strength domestic wastewater at low temperature(10℃).After running for 124 days in parallel,results indicated that the conversion rate of N2O for a magnetic field-sequencing batch reactor(MF-SBR)decreased by34.3%compared to that of a conventional SBR(C-SBR).Meanwhile,the removal efficiencies for total nitrogen(TN)and ammonia nitrogen(NH4-N)of the MF-SBR were 22.4%and 39.5%higher than those of the C-SBR.High-throughput sequencing revealed that the abundances of AOB(Nitrosomonas),NOB(Nitrospira)and denitrifiers(Zoogloea),which could reduce N2O to N2,were promoted significantly in the MF-SBR.Enzyme activities(Nir)and gene abundances(nos Z nir S and nir K)for denitrification in the MF-SBR were also notably higher compared to C-SBR.Our study shows that application of a magnetic field is a useful approach for inhibiting the generation of N2O and promoting the nitrogen removal efficiency by affecting the microbial characteristics of sludge in an SBR treating domestic wastewater at low temperature. 展开更多
关键词 Magnetic field Low temperature N2O emission Biological nitrogen removal high-throughput 16S rRNA gene sequencing
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MicroRNA and mRNA profiling of cerebral cortex in a transgenic mouse model of Alzheimer’s disease by RNA sequencing 被引量:7
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作者 Li Zeng Hai-Lun Jiang +2 位作者 Ghulam Md Ashraf Zhuo-Rong Li Rui Liu 《Neural Regeneration Research》 SCIE CAS CSCD 2021年第10期2099-2108,共10页
In a previous study,we found that long non-coding genes in Alzheimer’s disease(AD)are a result of endogenous gene disorders caused by the recruitment of microRNA(miRNA)and mRNA,and that miR-200a-3p and other represen... In a previous study,we found that long non-coding genes in Alzheimer’s disease(AD)are a result of endogenous gene disorders caused by the recruitment of microRNA(miRNA)and mRNA,and that miR-200a-3p and other representative miRNAs can mediate cognitive impairment and thus serve as new biomarkers for AD.In this study,we investigated the abnormal expression of miRNA and mRNA and the pathogenesis of AD at the epigenetic level.To this aim,we performed RNA sequencing and an integrative analysis of the cerebral cortex of the widely used amyloid precursor protein and presenilin-1 double transgenic mouse model of AD.Overall,129 mRNAs and 68 miRNAs were aberrantly expressed.Among these,eight down-regulated miRNAs and seven up-regulated miRNAs appeared as promising noninvasive biomarkers and therapeutic targets.The main enriched signaling pathways involved mitogen-activated kinase protein,phosphatidylinositol 3-kinase-protein kinase B,mechanistic target of rapamycin kinase,forkhead box O,and autophagy.An miRNA-mRNA network between dysregulated miRNAs and corresponding target genes connected with AD progression was also constructed.These miRNAs and mRNAs are potential biomarkers and therapeutic targets for new treatment strategies,early diagnosis,and prevention of AD.The present results provide a novel perspective on the role of miRNAs and mRNAs in AD.This study was approved by the Experimental Animal Care and Use Committee of Institute of Medicinal Biotechnology of Beijing,China(approval No.IMB-201909-D6)on September 6,2019. 展开更多
关键词 3ʹ-untranslated region Alzheimer’s disease BIOMARKER cerebral cortex gene Ontology high-throughput sequencing intracellular neurofibrillary tangles microtubule-associated protein-τ miRNA-mRNA network presenilin 1
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Characterization of root-associated bacterial community structures in soybean and corn using locked nucleic acid(LNA) oligonucleotide-PCR clamping and 454 pyrosequencing 被引量:6
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作者 YU Zhen-hua YU Jiang +3 位作者 Makoto Ikenaga Masao Sakai LIU Xiao-bing WANG Guang-hua 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2016年第8期1883-1891,共9页
supported in part by grants from the Strategic Priority Research Program of Chinese Academy of Sciences (XDB15010103);the National Natural Science Foundation of China (41201247)
关键词 bacterial diversity high-throughput sequencing corn soybean SSU rRNA genes
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Dissecting the cell microenvironment of ovarian endometrioma through single-cell RNA sequencing 被引量:2
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作者 Jiangpeng Wu Siyu Xia +12 位作者 Wenting Ye Yan Sun Jing Cai Fubing Yu Haiping Wen Xiuwei Yi Taikang Li Mingwei Chen Jiayun Chen Ge Song Chuanbin Yang Yali Song Jigang Wang 《Science China(Life Sciences)》 2025年第1期116-129,共14页
Ovarian endometrioma(OE),also known as“chocolate cysts,”is a cystic mass that develops in the ovaries due to endometriosis and is a common gynecological condition characterized by the growth of endometrial tissue ou... Ovarian endometrioma(OE),also known as“chocolate cysts,”is a cystic mass that develops in the ovaries due to endometriosis and is a common gynecological condition characterized by the growth of endometrial tissue outside the uterus,leading to symptoms such as dysmenorrhea,pelvic pain,and infertility.However,the precise molecular and cellular mechanisms driving this pathophysiology remain largely unknown,posing challenges for diagnosis and treatment.Here,we employed integrated single-cell transcriptomic profiling of over 52,000 individual cells from endometrial tissues of OE patients and healthy donors and identified twelve major cell populations.We identified notable alterations in cell type-specific proportions and molecular signatures associated with OE.Notably,the activation of IGFBP5^(+) macrophages with pro-inflammatory properties,NK cell exhaustion,and aberrant proliferation of IQCG^(+) and KLF2^(+) epithelium are key features and may be the potential mechanisms underlying the pathogenesis of OE.Collectively,our data contribute to a better understanding of OE at the single cell level and may pave the way for the development of novel therapeutic strategies. 展开更多
关键词 OVARY high-throughput sequencing TRANSCRIPTOMICS gene expression analysis ligand-receptor analysis
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Monogenic defects in Russian children with autism spectrum disorders
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作者 Evgeny N Suspitsin Kristina S Malysheva +10 位作者 Sergey A Laptiev Olga S Sharonova Anastasiya S Abuzova Anastasiya A Kuznitsyna Tatyana V Melashenko Oksana V Efremova Polina R Korzun Jeyla O Binnatova Yuliy A Gorgul Maria V Syomina Evgeny N Imyanitov 《World Journal of Clinical Pediatrics》 2025年第4期454-464,共11页
BACKGROUND Autism spectrum disorders(ASD)represent a substantial social problem affecting at least 1 in 100 children worldwide.These conditions are very often accompanied by intellectual disability(ID)and speech delay... BACKGROUND Autism spectrum disorders(ASD)represent a substantial social problem affecting at least 1 in 100 children worldwide.These conditions are very often accompanied by intellectual disability(ID)and speech delay;thus,they can be considered within a clinical continuum of neurodevelopmental disorders.Given the high heterogeneity of ASD,the subjective nature of diagnostic criteria,and the presence of phenocopies,identifying genetic determinants of these disorders remains a challenge.AIM To investigate the spectrum and frequency of rare genetic variants in genes with proven association with ASD in Russian children.METHODS 110 patients from 106 families were recruited into the study mean age at diagnosis 6 years;boy-to-girl ratio 3:1.Most of the patients(84%)demonstrated a combination of ASD with developmental delay(DD)or ID.Patients with syndromic features were subjected to the chromosomal microarray analysis.The remained children underwent clinical exome sequencing aimed at identifying presumably monogenic causes of ASD.The study focused on rare(minor allele frequency≤0.001)variants affecting high-confidence ASD-associated genes.RESULTS Pathogenic copy number variations were detected in three(7%)of the patients examined.Clinical exome sequencing revealed pathogenic/likely pathogenic variants in 12 of 105 cases(11%),indicating the presence of monogenic syndromes with established clinical significance(Pitt-Hopkins syndrome,ZTTK syndrome,syndromic X-linked ID of Billuart type,Snijders-Blok-Campeau,Helsmoortel-van der Aa,Coffin-Siris,Clark-Baraitser,Keefstra syndromes,etc.).In addition,27 patients(26%)had 37 rare variants of unknown clinical significance in DSCAM,SHANK2,AUTS2,ADNP,ANKRD11,APBA2,ARID1B,ASTN2,ATRX,SCN1A,CHD2,DEAF1,EHMT1,GRIN2B,NBEA,NR4A2,TRIO,TRIP12,POGZ,EP300,FOXP1,PCDH19,GRIN2A,NCKAP1,and CHD8 genes.No specific variant was detected more than once in unrelated patients.Among the genes with rare variants found in 2 or more patients were TRIP12(n=4),AUTS2(n=3),ARID1B(n=3),PCDH19(n=3),EP300(n=3),TRIO(n=2),ASTN2(n=2),EHMT1(n=2),and CHD2(n=2).Of note,5 male ASD/DD patients from 3 unrelated families had PCDH19 missense variants,confirming that at least some hemizygous males with non-mosaic PCDH19 variants may present with neurobehavioral abnormalities.These variants did not cause epilepsy restricted to females in patients’mothers or sisters.CONCLUSION These data confirm a tremendous diversity of genetic causes of ASD.Clinical exome sequencing may serve as a reasonable alternative to whole-exome sequencing. 展开更多
关键词 AUTISM Autistic spectrum disorders Mutation high-throughput sequencing Intellectual disability Neurodevelopmental disorders Developmental delay Mental retardation PCDH19 Chromosomal microarray
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Diversity of bacterial lactase genes in intestinal contents of mice with antibiotics-induced diarrhea 被引量:10
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作者 Cheng-Xing Long Lu He +3 位作者 Yan-Fang Guo Ya-Wei Liu Nen-Qun Xiao Zhou-Jin Tan 《World Journal of Gastroenterology》 SCIE CAS 2017年第42期7584-7593,共10页
AIM To investigate the diversity of bacterial lactase genes in the intestinal contents of mice with antibiotics-induced diarrhea.METHODS Following 2 d of adaptive feeding, 12 specific pathogenfree Kunming mice were ra... AIM To investigate the diversity of bacterial lactase genes in the intestinal contents of mice with antibiotics-induced diarrhea.METHODS Following 2 d of adaptive feeding, 12 specific pathogenfree Kunming mice were randomly divided into the control group and model group. The mouse model of antibiotics-induced diarrhea was established by gastric perfusion with mixed antibiotics(23.33 m L·kg^(-1)·d^(-1)) composed of gentamicin sulfate and cephradine capsules administered for 5 days, and the control group was treated with an equal amount of sterile water. Contents of the jejunum and ileum were then collected and metagenomic DNA was extracted, after which analysis of bacterial lactase genes using operational taxonomic units(OTUs) was carried outafter amplification and sequencing.RESULTS OTUs were 871 and 963 in the model group and control group, respectively, and 690 of these were identical. There were significant differences in Chao1 and ACE indices between the two groups(P < 0.05). Principal component analysis, principal coordination analysis and nonmetric multidimensional scaling analyses showed that OTUs distribution in the control group was relatively intensive, and differences among individuals were small, while in the model group, they were widely dispersed and more diversified. Bacterial lactase genes from the intestinal contents of the control group were related to Proteobacteria, Actinobacteria, Firmicutes and unclassified bacteria. Of these, Proteobacteria was the most abundant phylum. In contrast, the bacterial population was less diverse and abundant in the model group, as the abundance of Bradyrhizobium sp. BTAi1, Agrobacterium sp. H13-3, Acidovorax sp. KKS102, Azoarcus sp. KH32 C and Aeromonas caviae was lower than that in the control group. In addition, of the known species, the control group and model group had their own unique genera, respectively.CONCLUSION Antibiotics reduce the diversity of bacterial lactase genes in the intestinal contents, decrease the abundance of lactase gene, change the lactase gene strains, and transform their structures. 展开更多
关键词 Antibiotics-induced diarrhea Lactase genes gene diversity Intestinal bacteria high-throughput sequencing
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Experimental genomics:The application of DNA microarrays in cellular and molecular biology studies
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作者 罗晓艳 唐巍 《Journal of Forestry Research》 SCIE CAS CSCD 2002年第4期299-308,337-338,共10页
The genome sequence information in combination with DNA microarrays promises to revolutionize the way of cellu-lar and molecular biological research by allowing complex mixtures of RNA and DNA to interrogated in a par... The genome sequence information in combination with DNA microarrays promises to revolutionize the way of cellu-lar and molecular biological research by allowing complex mixtures of RNA and DNA to interrogated in a parallel and quantita-tive fashion. DNA microarrays can be used to measure levels of gene expression for tens of thousands of gene simultane-ously and take advantage of all available sequence information for experimental design and data interpretation in pursuit of biological understanding. Recent progress in experimental genomics allows DNA microarrays not simply to provide a cata-logue of all the genes and information about their function, but to understand how the components work together to comprise functioning cells and organisms. This brief review gives a survey of DNA microarrays technology and its applications in ge-nome and gene function analysis, gene expression studies, biological signal and defense system, cell cycle regulation, mechanism of transcriptional regulation, proteomics, and the functionality of food component. 展开更多
关键词 Experimental genomics sequence information DNA microarrays gene expression Functional analysis.
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Spatial distribution characteristics of bacterial community structure and gene abundance in sediments of the Bohai Sea 被引量:3
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作者 Quanrui Chen Jingfeng Fan +10 位作者 Jie Su Hongxia Ming Zhihao Sun Mengfei Li Xiaohui Zhao Yantao Wang Yingxue Zhang Huizhen Zhang Yuan Jin Xiaowan Ma Bin Wang 《Acta Oceanologica Sinica》 SCIE CAS CSCD 2020年第2期69-78,共10页
This study investigated differences in the community structure and environmental responses of the bacterial community in sediments of the Bohai Sea.Illumina high-throughput sequencing technology and real-time PCR were... This study investigated differences in the community structure and environmental responses of the bacterial community in sediments of the Bohai Sea.Illumina high-throughput sequencing technology and real-time PCR were used to assay the bacterial 16S rRNA genes in the surface sediments of 13 sampling stations in the Bohai Sea.The results showed that sediments at the majority of the 13 sampling stations were contaminated by heavy metal mercury.The main phyla of bacteria recorded included Proteobacteria(52.92%),Bacteroidetes(11.76%),Planctomycetes(7.39%),Acidobacteria(6.53%)and Chloroflexi(4.97%).The genus with the highest relative abundance was Desulfobulbus(4.99%),which was the dominant genus at most sampling stations,followed by Lutimonas and Halioglobus.The main factors influencing bacterial community structure were total organic carbon,followed by depth and total phosphorus.The content of lead,cadmium,chromium,copper and zinc had a consistent effect on community structure.Arsenic showed a negative correlation with bacterial community structure in most samples,while the impact of mercury on community structure was not significant.The bacterial community in sediment samples from the Bohai Sea was rich in diversity and displayed an increase in diversity from high to low latitudes.The data indicated that the Bohai Sea had abundant microbial resources and was rich in bacteria with the potential to metabolize many types of pollutants. 展开更多
关键词 Bohai Sea SEDIMENTS bacterial community structure high-throughput sequencing 16S RRNA gene
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Altered Expression of Differential Genes in Thoracic Spinal Cord Involved in Experimental Cholestatic Itch Mouse Model 被引量:1
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作者 Ming CHEN Zhi-xiao LI +1 位作者 Qian WANG Hong-bing XIANG 《Current Medical Science》 SCIE CAS 2018年第4期679-683,共5页
The spinal origin of cholestatic itch in experimental obstructive jaundice mouse model remains poorly understood. In this study, the jaundice model was established by bile duct ligation (BDL) in mice, and differenti... The spinal origin of cholestatic itch in experimental obstructive jaundice mouse model remains poorly understood. In this study, the jaundice model was established by bile duct ligation (BDL) in mice, and differential gene expression patterns were analyzed in the lower thoracic spinal cord involved in cholestatic pruritus after BDL operation using high-throughput RNA sequencing. At 21st day after BDL, the expression levels of ENSRNOG00000060523, ENSRNOG00000058405 and ENSRNOG00000055193 mRNA were significantly up-regulated, and those of ENSRNOG00000042197, ENSRNOG00000008478, ENSRNOG00000019607, ENSRNOG00000020647, ENSRNOG00000046289, Gemin8, Serpina3n and Trim63 mRNA were significantly down-regulated in BDL group. The RNAseq data of selected mRNAs were validated by RT-qPCR. The expression levels of ENSRNOG00000042197, ENSRNOG00000008478, ENSRNOG00000019607, ENSRNOG00000020647, ENSRNOG00000046289 and Serpina3n mRNA were significantly down-regulated in BDL group. This study suggested that cholestatic pruritus in experimental obstructive jaundice mouse model is related with in the changes of gene expression profiles in spinal cord. 展开更多
关键词 cholestatic itch differential genes spinal cord high-throughput RNA sequencing
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Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo 被引量:4
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作者 Yun GAO Hong-yang WANG +5 位作者 Jing GUAN Lan LAN Cui ZHAO Lin-yi XIE Da-yong WANG Qiu-ju WANG 《Current Medical Science》 2021年第4期673-679,共7页
Objective To investigate the genetic causes of sudden sensorineural hearing loss(SSNHL)patients in China.This study focused on analyzing variations of coding sequence of common genes related to deafness,revealing the ... Objective To investigate the genetic causes of sudden sensorineural hearing loss(SSNHL)patients in China.This study focused on analyzing variations of coding sequence of common genes related to deafness,revealing the molecular pathogenesis of sudden deafness from a genomics perspective,discovering molecular markers associated with the onset of deafness,and then supplying prevention to high-risk populations,classifying disease according to accurate etiology,and choosing a much more precision therapy.Methods We retrospectively analyzed the clinical characteristics of 51 patients diagnosed as SSNHL with vertigo treated in the Chinese PLA General Hospital.In this study,mutation screening of 307 nuclear genes and mitochondrial genome responsible for human or mouse deafness was performed on the 51 cases of unilateral sudden deafness patients with vertigo.Results We identified 51 cases of unilateral sudden deafness,including 2 cases of low-mid frequency hearing impairment,18 cases of mid-high frequency hearing loss,11 cases of flat-type hearing loss,and 20 cases of all frequency hearing loss.Among the 51 cases,8(15.69%)cases of GJB2 heterozygous variations,1(1.96%)case of GJB3 heterozygous variations,5(9.8%)cases of SLC26A4 heterozygous variations,2(3.92%)cases of COCH heterozygous variations,14(27.45%)cases of CDH23 heterozygous variations,14(27.45%)cases of OTOF heterozygous variations,1(1.96%)case of SLC17A8 heterozygous variations and 2(3.92%)cases of KCNE1 heterozygous variations.No mtDNA gene variations were identified.Conclusion SSNHL has some relationship with hereditary in Chinese population,but its complex genetic pathogenic mechanisms need further study. 展开更多
关键词 sudden sensorineural hearing loss targeted high-throughput sequencing VARIATION gene SUSCEPTIBILITY
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2型糖尿病患者血浆环状RNA差异性表达的研究 被引量:3
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作者 朱慧静 杨明明 +2 位作者 周丹 刘宇光 刘亚丽 《中国糖尿病杂志》 CAS CSCD 北大核心 2024年第1期16-22,共7页
目的探讨T2DM患者血浆环状RNA(circRNA)差异性表达及在T2DM发生发展中的作用。方法选取2022年3月至2023年3月于菏泽市立医院内分泌科住院治疗的新诊断T2DM患者33例(T2DM组)和同期体检健康者33名(NC组)。两组采用高通量测序技术检测并筛... 目的探讨T2DM患者血浆环状RNA(circRNA)差异性表达及在T2DM发生发展中的作用。方法选取2022年3月至2023年3月于菏泽市立医院内分泌科住院治疗的新诊断T2DM患者33例(T2DM组)和同期体检健康者33名(NC组)。两组采用高通量测序技术检测并筛选出差异表达的circRNA,选取差异倍数较大的6个circRNA,采用RT-qPCR在其余两组中验证芯片结果。对显著差异表达的circRNA进行生物信息学分析,并预测其与微小RNA(miRNA)的相互作用。结果芯片结果显示,与NC组比较,T2DM组共有166个显著差异表达的circRNA(差异倍数≥2,P<0.05)其中上调137个,下调29个。q RT-PCR验证的6个circRNA中,T2DM组hsa_circ_0000705相对表达量高于NC组,hsa_circ_0005362、hsa_circ_0042839相对表达量低于NC组,与芯片结果一致,两组hsa_circ_0117392、hsa_circ_0008311、hsa_circ_0087641表达无差异。circRNA与miRNA的结合位点预测提示差异表达的circRNA可能通过靶向miR-187-5p、miR-128-1-5p等发挥作用。结论T2DM患者血浆中存在差异表达的circRNA,hsa_circ_0005362显著下调,可能通过靶向miR-128-1-5p调控相关信号通路,参与T2DM的发生发展。 展开更多
关键词 糖尿病 2型 环状RNA 高通量测序 生物信息学
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染色体微阵列分析和全外显子组测序在产前罕见疾病诊断中的应用 被引量:1
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作者 李永丽 李华锋 《山东医学高等专科学校学报》 2024年第1期7-10,共4页
目的探讨产前罕见疾病的诊断方法。方法选取4845例有产前诊断指征的孕妇,所有胎儿均行CMA检测CNV,在排除非整倍体和异常CNV后,其中68例进一步行WES检测。结果4842例样本CMA检测成功,检出染色体异常537例(11.09%),经分析明确致病性变异为... 目的探讨产前罕见疾病的诊断方法。方法选取4845例有产前诊断指征的孕妇,所有胎儿均行CMA检测CNV,在排除非整倍体和异常CNV后,其中68例进一步行WES检测。结果4842例样本CMA检测成功,检出染色体异常537例(11.09%),经分析明确致病性变异为370例,包括:非整倍体214例,致病性CNV 134例和部分CNV嵌合22例。疾病主要涉及1q21缺失综合征(7例)、DiGeorge综合征(6例)、17q12缺失综合征(6例)、Cri-du-chat综合征(5例)、16p11.2缺失综合征(5例)。WES结果显示在68例CMA结果阴性的胎儿中检出13例单基因病(19.12%)。结论CMA和WES是明确产前胎儿遗传病因和产前诊断的有效手段。 展开更多
关键词 染色体微阵列分析 全外显子组测序 产前诊断 基因变异
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High-throughput sequencing-based genome-wide identification of micro RNAs expressed in developing cotton seeds 被引量:7
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作者 WANG YanMei DING Yan +2 位作者 YU DingWei XUE Wei LIU JinYuan 《Science China(Life Sciences)》 SCIE CAS CSCD 2015年第8期778-786,共9页
Micro RNAs(mi RNAs) have been shown to play critical regulatory roles in gene expression in cotton. Although a large number of mi RNAs have been identified in cotton fibers, the functions of mi RNAs in seed developmen... Micro RNAs(mi RNAs) have been shown to play critical regulatory roles in gene expression in cotton. Although a large number of mi RNAs have been identified in cotton fibers, the functions of mi RNAs in seed development remain unexplored. In this study, a small RNA library was constructed from cotton seeds sampled at 15 days post-anthesis(DPA) and was subjected to high-throughput sequencing. A total of 95 known mi RNAs were detected to be expressed in cotton seeds. The expression pattern of these identified mi RNAs was profiled and 48 known mi RNAs were differentially expressed between cotton seeds and fibers at 15 DPA. In addition, 23 novel mi RNA candidates were identified in 15-DPA seeds. Putative targets for 21 novel and 87 known mi RNAs were successfully predicted and 900 expressed sequence tag(EST) sequences were proposed to be candidate target genes, which are involved in various metabolic and biological processes, suggesting a complex regulatory network in developing cotton seeds. Furthermore, mi RNA-mediated cleavage of three important transcripts in vivo was validated by RLM-5′ RACE. This study is the first to show the regulatory network of mi RNAs that are involved in developing cotton seeds and provides a foundation for future studies on the specific functions of these mi RNAs in seed development. 展开更多
关键词 Gossypium hirsutum seed development microRNA (miRNA) target gene GO annotation high-throughput sequencing
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孤立型先天性心脏病的遗传学病因
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作者 潘宏贵 谢睿彬 +1 位作者 龙启海 朱行美 《中国临床研究》 CAS 2024年第6期830-834,共5页
先天性心脏病(CHD)的遗传机制复杂且目前对其缺乏确切的了解。文献中有关CHD的报道通常合并有心外畸形,但绝大多数CHD为孤立型,仅表现为单一的心脏畸形,其病因机制尚不十分确切,且遗传学机制更难以阐明,加之目前针对孤立型CHD的病例研... 先天性心脏病(CHD)的遗传机制复杂且目前对其缺乏确切的了解。文献中有关CHD的报道通常合并有心外畸形,但绝大多数CHD为孤立型,仅表现为单一的心脏畸形,其病因机制尚不十分确切,且遗传学机制更难以阐明,加之目前针对孤立型CHD的病例研究极少,缺乏相关的系统深入的研究数据,因此阐明孤立型CHD患者的遗传学病因并为其进一步的临床治疗提供指导是CHD领域具有重要研究价值的课题之一。本文回顾了孤立型先天性心脏病目前已知的遗传学病因及潜在的遗传学机制,以及对孤立型CHD患者进行遗传学检测的建议。 展开更多
关键词 先天性心脏病 孤立型 遗传学 单基因 拷贝数变异 嵌合体 染色体微阵列分析 全外显子组测序
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A gene panel to predict response to adjuvant chemotherapy and risk of recurrence in colorectal cancer
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作者 Steffie Urmila Avanthi Ravikanth Vishnubhotla +7 位作者 Mitnala Sasikala Guduru Venkat Rao Rebala Pradeep Sanjeev Marigowda Patil Anuradha Sekaran Jain Aviral Sonali Mondkar Nageshwar Reddy Duvvur 《Malignancy Spectrum》 2025年第2期84-94,共11页
Background:Chemotherapy is the mainstay to treat metastatic colorectal cancer(CRC).However,a sizeable proportion of patients do not respond to treatment,which leads to the recurrence of disease.This study was carried ... Background:Chemotherapy is the mainstay to treat metastatic colorectal cancer(CRC).However,a sizeable proportion of patients do not respond to treatment,which leads to the recurrence of disease.This study was carried out to identify reliable gene expression-based marker(s)to predict the response to chemotherapy and the risk of recurrence.Methods:This prospective study involved the collection of tumor tissues(n=100)and normal tissues(n=10)from CRC patients who primarily underwent surgical treatment.Global gene expression profiles were generated on microarray(Affymetrix;n=5)and the next-generation sequencing(NGS)(Illumina;n=20)platforms.Patients were classified as responders(n=13;complete response with no relapse)or non-responders(n=12;recurrence of disease leading to death).Common dysregulated genes identified from both platforms were replicated in an independent set(n=75;quantitative real-time polymerase chain reaction(q RT-PCR)).The area under the curve(AUC)was generated,and a combinatorial analysis was performed.Results:A total of 193 and 1351 genes were dysregulated in microarray and NGS datasets,respectively.Of the top common genes(PTGIS,LYVE1,C3,C7,CXCL12,CEACAM6,MUC13,and ST14)that were selected for replication,upregulation of five genes(PTGIS,C3,C7,LYVE1,and CXCL12)were associated with the non-responder group in validation set.Combinatorial analysis and comparison of AUC identified a significant increase(p=0.03)in AUC by 15.2%(95%confidence interval(CI):0.01-0.29)for two genes(PTGIS and LYVE1).Sensitivity,specificity,positive predictive value(PPV),and negative predictive value(NPV)were88.9%,100%,100%,and 95.6%,respectively.Conclusion:Assessing upregulation of the PTGIS and LYVE1 genes enables identification of individuals who may not respond to adjuvant chemotherapy and the risk of recurrence.The addition of drugs targeting these genes may improve response and benefit the patients. 展开更多
关键词 colorectal cancer microarray RNA‐seq adjuvant chemotherapy prognosis transcriptome sequencing gene panel
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肝癌患者血清中乙型肝炎病毒前C和BCP区基因变异的临床研究 被引量:5
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作者 周国平 白敬羽 +4 位作者 罗立波 唐向荣 王永忠 陈敏 杭双荣 《临床检验杂志》 CAS CSCD 北大核心 2006年第5期344-345,共2页
目的了解常州地区乙型肝炎病毒(HBV)DNA前C区(1896)、BCP区(1762/1764)基因的变异,探讨与肝癌的相关性。方法运用基因芯片和核苷酸序列分析技术,对HBVDNA进行分析。结果前C区1896位、BCP区1762/1764位突变普遍存在。(1)在39例HBeAg(+)... 目的了解常州地区乙型肝炎病毒(HBV)DNA前C区(1896)、BCP区(1762/1764)基因的变异,探讨与肝癌的相关性。方法运用基因芯片和核苷酸序列分析技术,对HBVDNA进行分析。结果前C区1896位、BCP区1762/1764位突变普遍存在。(1)在39例HBeAg(+)标本组中1896突变为5例(12.8%),1762/1764突变为15例(38.5%);在75例HBeAg(-)组中1896突变为26例(34.7%),1762/1764突变为55例(73.3%)。(2)在114例标本中,慢性乙型肝炎、慢性重型乙型肝炎、乙肝肝硬化、肝癌组中前C区1896、BCP区1762/1764位的总突变率分别为55.9%、71.4%、75.7%、88.9%。结论前C区1896、BCP区1762/1764位突变与HBeAg(-)显著相关,两者总突变率在肝癌患者中显著升高,尤其前C1896、BCP区1762/1764同时突变与肝硬化和肝癌密切相关。 展开更多
关键词 乙型肝炎病毒 基因变异 基因芯片 序列分析
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十五项耳聋基因芯片联合一代测序检测聋儿家庭的致聋变异分析 被引量:3
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作者 林颖 周枫 +4 位作者 黄利芬 张群慧 王兴君 王淑杰 于锋 《中华耳科学杂志》 CSCD 北大核心 2019年第5期716-721,共6页
目的应用十五项耳聋基因芯片联合一代测序技术对非综合征型耳聋家庭易感基因进行检测,揭示常见的耳聋分子病因构成,并验证基因芯片技术的准确性及有效性。方法对广州市两个特殊听障机构的80组聋儿家庭(共241例)进行病史采集、听力评估,... 目的应用十五项耳聋基因芯片联合一代测序技术对非综合征型耳聋家庭易感基因进行检测,揭示常见的耳聋分子病因构成,并验证基因芯片技术的准确性及有效性。方法对广州市两个特殊听障机构的80组聋儿家庭(共241例)进行病史采集、听力评估,应用十五项耳聋基因芯片技术进行GJB2(c.35delG,c.176del16bp,c.235delC及c.299_300delAT),GJB3(c.538C>T),SLC26A4(c.919-2A>G,c.2168A>G,c.1229C>T,c.1975G>C,c.1174A>T,c.1226G>A,c.2027T>A和c.IVS15+5G>A)和MT-RNR1(m.1555A>G,m.1494C>T)的检测,并用Sanger法对变异阳性家庭进行序列测定。结果在80组聋儿家庭中,基因芯片检测出GJB2及SLC26A4基因变异共62例,总检出率为25.73%(62/241),GJB2 c.235delC(34/62)与SLC26A4 c.919-2A>G(16/62)热点变异居多。Sanger法测序结果显示:携带GJB2及SLC26A4基因共73例,总检出率为30.30%(73/241),其中GJB2 49例,SLC26A4 24例;基因芯片检测出的基因变异经一代测序验证,符合率达100%;除基因芯片包含的位点外,还检测出部分GJB2 c.109G>A、c.79G>A、c.341A>G变异,及SLC26A4 c.259G>T、c.754T>C变异。结论十五项耳聋基因芯片联合一代测序技术可以提高非综合征型耳聋的变异检出率,此基因芯片准确率高,适合快速、大规模检测;广州市此特殊听障机构的耳聋相关基因热点变异仍以GJB2 c.235delC与SLC26A4 c.919-2A>G最常见。 展开更多
关键词 基因芯片 Sanger法 序列测定 非综合征型耳聋 易感基因
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