|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Gene mutations and clinical phenotypes in Chinese children with Blau syndrome显示文摘The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified10 missense mutations, out of which five were new: R334 L, E383 D, R471 C, C495 R and D512 F. The rest of them, R334 W,R334Q, G481 D, M513 T and R587 C, have been reported previously. Among all the mutations, R334 W, R334 Q and C495 R had the highest frequency. Blau syndrome was found at early age after birth. It began with lepidic rash and symmetric polyarthritis and was phenotypically characterized by typical rash, arthritis, iridocyclitis and arteritis. Cardiac involvement was also found in Blau syndrome. In addition to nerve deafness, renal involvement, osteochondroma and central nervous system involvement were also found in our patients. Therefore, Chinese children with Blau syndrome have unique gene mutations and complicated clinical phenotypes. Pathologic examination and CARD15 mutation testing should be considered for diagnosis as early as possible for suspected patients. | Caifeng Li Junmei Zhang Shipeng Li Tongxin Han Weiying Kuang Yifang Zhou Jianghong Deng Xiaohua Tan | 2017 | Science China(Life Sciences)2017，60，7： | 13 |
| 2 | Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome(CAPS)显示文摘The aim of our study is to explore the features of clinical manifestations and genetic mutations in Chinese CAPS patients. Fifteen confirmed patients with CAPS were enrolled. The onset time ranges from 2 days after birth to 6 years and 1 month. Recurrent urticaria rash(93.3%) with fever(100%) were two dominant characteristics of these patients that were presented as either acute or chronic process. Systemic involvements were found in all patients except for one with only rash and fever. The top three symptoms were fever(100%), rash(93.3%) and myalgia(76%). Other clinical manifestations include arthritis(11 cases), lung involvement(seven cases), optical dysfunction(seven cases), nerve deafness(six cases), nervous system involvement(five cases), hepatomegaly, splenomegaly and lymphadenectasis(five cases). Also, four patients had heart involvement and one patient suffered kidney involvement. The laboratory inflammation index such as leukocyte counts, platelet counts, erythrocyte sedimentation rate(ESR), C-reactive protein(CRP), serum amyloid A(SAA) and fibrinogen(FIB) increased significantly at initial stage, but decreased after therapy. As for gene mutation detection, Twelve out of 15 patients were confirmed with mutation in NLRP3, including 11 mutant site: c1789 A>G, c.1703 T>A, c.913 G>A, c.1710 G>C, c.1057 G >T, c.2335 C>T, c.932 T>C,c.296 G>C, c.663 C>T, t.1702 T>A, 299 G>A. Mutation sites c.1703 T>A, c.2335 C>T, c.296 G>C, c.663 C>T, and 299 G>A were newly identified. The association between gene mutation and clinical manifestation shows that D305 N was highly associated with severe organs involvements, and therefore, the time of therapy and regimen were critical for the prognosis of disease. As the largest cohort study of Chinese CAPS patients, we confirmed that all patients presented typical clinical manifestations, identified five new mutation sites on NLRP3 and analyzed the correlation between the genotypes and phenotypes. We also raise concerns for one case with serious conditions that only had two nonsense mutations(c.663 C>T and t.1702 T>A) detected. | Caifeng Li Xiaohua Tan Junmei Zhang Shipeng Li Wenxiu Mo Tongxin Han Weiying Kuang Yifang Zhou Jianghong Deng | 2017 | Science China(Life Sciences)2017，60，12： | 9 |
| 3 | TSUNAMI:Translational Bioinformatics Tool Suite for Network Analysis and Mining显示文摘Gene co-expression network(GCN)mining identifies gene modules with highly correlated expression profiles across samples/conditions.It enables researchers to discover latent gene/molecule interactions,identify novel gene functions,and extract molecular features from certain disease/condition groups,thus helping to identify disease bio-markers.However,there lacks an easy-to-use tool package for users to mine GCN modules that are relatively small in size with tightly connected genes that can be convenient for downstream gene set enrichment analysis,as well as modules that may share common members.To address this need,we developed an online GCN mining tool package:TSUNAMI(Tools SUite for Network Analysis and MIning).TSUNAMI incorporates our state-of-the-art lmQCM algorithm to mine GCN modules for both public and user-input data(microarray,RNA-seq,or any other numerical omics data),and then performs downstream gene set enrichment analysis for the identified modules.It has several features and advantages:1)a user-friendly interface and real-time co-expression network mining through a web server;2)direct access and search of NCBI Gene Expression Omnibus(GEO)and The Cancer Genome Atlas(TCGA)databases,as well as user-input gene ex-pression matrices for GCN module mining;3)multiple co-expression analysis tools to choose from,all of which are highly flexible in regards to parameter selection options;4)identified GCN modules are summarized to eigengenes,which are convenient for users to check their correlation with other clinical traits;5)integrated downstream Enrichr enrichment analysis and links to other gene set enrichment tools;and 6)visualization of gene loci by Circos plot in any step of the process.The web service is freely accessible through URL:http://gffzz424f13927bcf4b40spf0xu0cwuk5566cv.ffgz.tsg.suse.edu.cn/.Source code is available at http://gffzz188fe103f8f1460aspf0xu0cwuk5566cv.ffgz.tsg.suse.edu.cn/huangzhii/TSUNAMI/. | Zhi Huang Zhi Han Tongxin Wang Wei Shao Shunian Xiang Paul Salama Maher Rizkalla Kun Huang Jie Zhang | 2021 | Genomics, Proteomics & Bioinformatics2021，19，6： | 0 |
| 4 | Experimental and Numerical Investigation on the Aerodynamic Characteristics of High-Speed Pantographs with Supporting Beam Wind Deflectors显示文摘Aiming to mitigate the aerodynamic lift force imbalance between pantograph strips,which exacerbates wear and affects the current collection performance of the pantograph-catenary system,a study has been conducted to support the beam deflector optimization using a combination of experimental measurements and computational fluid dynamics(CFD)simulations.The results demonstrate that the size,position,and installation orientation of the wind deflectors significantly influence the amount of force compensation.They also indicate that the front strip deflectors should be installed downwards and the rear strip deflectors upwards,thereby forming a“π”shape.Moreover,the lift force compensation provided by the wind deflectors increases with the size of the deflector.Alternative wind compensation strategies,such as control circuits,are also discussed,putting emphasis on the pros and cons of various pantograph types and wind compensation approaches. | Shiyang Song Tongxin Han | 2024 | Fluid Dynamics & Materials Processing2024，20，1： | 0 |
| 5 | Transcriptomics reveals substance biosynthesis and transport on membranes of Listeria monocytogenes affected by antimicrobial lipopeptide brevilaterin B显示文摘Listeria monocytogenes is a worrisome food-borne pathogen threatening global food safety.Our previous study proved that lipopeptide brevilaterin B showed efficient antibacterial activity against L.monocytogenes by interacting with the cell membrane.This research further explored the antibacterial mechanism of brevilaterin B against L.monocytogenes at the sub-minimum inhibition concentration via transcriptomic analysis.Brevilaterin B induced growth inhibition rather than direct membrane lysis in L.monocytogenes at the minimum inhibitory concentration.Transcriptomic analysis showed 1779 difference expressed genes,including 895 up-regulated and 884 down-regulated genes.Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analysis indicated that brevilaterin B influenced multiple pathways of L.monocytogenes,including peptidoglycan biosynthesis,membrane transport(ATP-binding cassette transports,ion transport),cellular metabolism(amino acid and lipid metabolism),ATP synthesis,and activation of the stress response(quorum sensing and bacterial chemotaxis).In conclusion,brevilaterin B affects gene expression related to biosynthesis,transport and stress response pathways on the membrane of L.monocytogenes.The present work provides the first transcriptomic assessment of the antibacterial mechanism of lipopeptide brevilaterin B at the gene level. | Yangliu Liu Yawei Ning Zhou Chen Panpan Han Tongxin Zhi Siting Li Aijin Ma Yingmin Jia | 2023 | Food Science and Human Wellness2023，12，4： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员