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Background
Millions of single nucleotide polymorphisms have been identified as a result of the human genome project and the rapid advance of high throughput genotyping technology. Genetic association studies, such as recent genome-wide association studies (GWAS), have provided a springboard for exploring the contribution of inherited genetic variation and gene/environment interactions in relation to disease. Given the capacity of such studies to produce a plethora of information that may then be described in a number of publications, selecting possible disease susceptibility genes and identifying related modifiable risk factors is a major challenge. A Web-based application for finding evidence of such relationships is key to the development of follow-up studies and evidence for translational research. 相似文献3.
Judy K. Thibadeau Elisabeth A. Ward Minn M. Soe Tiebin Liu Mark Swanson Kathleen J. Sawin Kurt A. Freeman Heidi Castillo Karen Rauen Michael S. Schechter 《Birth defects research. Part A, Clinical and molecular teratology》2013,97(1):36-41
BACKGROUND
The purpose of this study was to describe the development and early implementation of a national spina bifida (SB) patient registry, the goal of which is to monitor the health status, clinical care, and outcomes of people with SB by collecting and analyzing patient data from comprehensive SB clinics.METHODS
Using a web‐based, SB‐specific electronic medical record, 10 SB clinics collected health‐related information for patients diagnosed with myelomeningocele, lipomyelomeningocele, fatty filum, or meningocele. This information was compiled and de‐identified for transmission to the Centers for Disease Control and Prevention (CDC) for quality control and analysis.RESULTS
A total of 2070 patients were enrolled from 2009 through 2011: 84.9% were younger than 18 years of age; 1095 were women; 64.2% were non‐Hispanic white; 6.5% were non‐Hispanic black or African American; and 24.2% were Hispanic or Latino. Myelomeningocele was the most common diagnosis (81.5%).CONCLUSIONS
The creation of a National Spina Bifida Patient Registry partnership between the CDC and SB clinics has been feasible. Through planned longitudinal data collection and the inclusion of additional clinics, the data generated by the registry will become more robust and representative of the population of patients attending SB clinics in the United States and will allow for the investigation of patient outcomes. Birth Defects Research (Part A), 2013. © 2012 Wiley Periodicals, Inc. 相似文献4.
Mingming Chen Daqing Guo Tiebin Wang Wei Jing Yang Xia Peng Xu Cheng Luo Pedro A. Valdes-Sosa Dezhong Yao 《PLoS computational biology》2014,10(3)
Absence epilepsy is believed to be associated with the abnormal interactions between the cerebral cortex and thalamus. Besides the direct coupling, anatomical evidence indicates that the cerebral cortex and thalamus also communicate indirectly through an important intermediate bridge–basal ganglia. It has been thus postulated that the basal ganglia might play key roles in the modulation of absence seizures, but the relevant biophysical mechanisms are still not completely established. Using a biophysically based model, we demonstrate here that the typical absence seizure activities can be controlled and modulated by the direct GABAergic projections from the substantia nigra pars reticulata (SNr) to either the thalamic reticular nucleus (TRN) or the specific relay nuclei (SRN) of thalamus, through different biophysical mechanisms. Under certain conditions, these two types of seizure control are observed to coexist in the same network. More importantly, due to the competition between the inhibitory SNr-TRN and SNr-SRN pathways, we find that both decreasing and increasing the activation of SNr neurons from the normal level may considerably suppress the generation of spike-and-slow wave discharges in the coexistence region. Overall, these results highlight the bidirectional functional roles of basal ganglia in controlling and modulating absence seizures, and might provide novel insights into the therapeutic treatments of this brain disorder. 相似文献
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Lin Yangyang Lu Xiao Dong Juntao He Xiaokuo Yan Tiebin Liang Huiying Sui Minghong Zheng Xiuyuan Liu Huihua Zhao Jingpu Lu Xinxin 《Neurochemical research》2015,40(9):1839-1848
Neurochemical Research - A rat model of vascular dementia was used to compare the effects of involuntary exercise induced by functional electrical stimulation (FES), forced exercise and voluntary... 相似文献
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抗黄曲霉毒素B1单链抗体的筛选和鉴定 总被引:1,自引:0,他引:1
目的】从Tomlinson(I)噬菌体抗体库中筛选人源化抗黄曲霉毒素B1单链抗体蛋白(scFv)并进行鉴定。【方法】分别采用甘氨酸洗脱、胰蛋白酶洗脱、游离AFB1竞争洗脱和AFB1竞争洗脱加胰蛋白酶处理4种方法对噬菌体抗体进行特异性洗脱。将筛选到的噬菌体阳性克隆转化到大肠杆菌 (Escherichia.coli ) HB2151,IPTG诱导表达scFv。ELISA检测和基因序列测定。【结果】比较四种洗脱方法,发现用AFB1竞争加胰蛋白酶洗脱筛选到阳性克隆的的概率最高,把此方法得到的阳性噬菌体克隆转化大肠杆菌HB2151表达,竞争性ELISA检测得到2个能特异性结合游离的AFB1阳性克隆。间接性ELISA测定相对亲和力分别为0.4 μg/mL和0.7 μg/mL 。测序证实scFv属于人类免疫球蛋白可变区。【结论】利用噬菌体展示技术获得高特异性抗黄曲霉毒素B1的人源化单链抗体,本实验方法可以为其它抗半抗原重组抗体的筛选提供一定的借鉴意义。 相似文献
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Wei Yu Melinda Clyne Siobhan M Dolan Ajay Yesupriya Anja Wulf Tiebin Liu Muin J Khoury Marta Gwinn 《BMC bioinformatics》2008,9(1):205
Background
Synthesis of data from published human genetic association studies is a critical step in the translation of human genome discoveries into health applications. Although genetic association studies account for a substantial proportion of the abstracts in PubMed, identifying them with standard queries is not always accurate or efficient. Further automating the literature-screening process can reduce the burden of a labor-intensive and time-consuming traditional literature search. The Support Vector Machine (SVM), a well-established machine learning technique, has been successful in classifying text, including biomedical literature. The GAPscreener, a free SVM-based software tool, can be used to assist in screening PubMed abstracts for human genetic association studies. 相似文献
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