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MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses
Molecular Genetics and Metabolism ( IF 3.7 ) Pub Date : 2021-06-15 , DOI: 10.1016/j.ymgme.2021.06.004
Luís Dias Ferreira Soares 1 , Gerda Cristal Villalba Silva 2 , Francyne Kubaski 3 , Roberto Giugliani 4 , Ursula Matte 5
Affiliation  

Mucopolysaccharidoses (MPS) are lysosomal storage diseases (LSDs) caused by the deficiency of enzymes essential for the metabolism of extracellular matrix components called glycosaminoglycans (GAGs). To understand the physiopathology and alterations due to the lysosomal accumulation resulting from enzymatic deficiencies and their secondary outcomes can improve the diagnosis and treatment of rare genetic diseases. This work presents a database for differentially expressed genes from different public MPS data. We developed our database, including 13 studies previously deposited in the GEO (https://www.ncbi.nlm.nih.gov/geo/). The website is hosted in the UFRGS data processing center (CPD) and is available at <https://www.ufrgs.br/mpsbase/>. The site was constructed in PHP, and the analyses were performed in R. The organisms represented by the datasets are Canis lupus familiaris, Homo sapiens, Mus musculus, and Rattus norvegicus. The user can search for the differentially expressed genes and ontologies by species, MPS type, or tissue type. For each comparison, a heatmap with the 50 top differentially expressed genes is available as well as dot plots for the 30 top ontologies divided by biological process, cellular component, KEGG pathways, and molecular function. This data is also fully available in tables. There are 54 possible comparisons involving about 5000 to 10,000 genes each. This website is the only specific database for MPS with filtering and presenting their results in a one-click approach to the best of our knowledge. The development of such analytical and automated strategies accessible to health professionals is essential for fostering MPS research. The MPSBase is a web user-friendly, comprehensive repository of differentially expressed genes and ontologies regarding the MPS data.



中文翻译:

MPSBase:粘多糖症差异表达基因的综合库

粘多糖贮积症 (MPS) 是溶酶体贮积病 (LSDs),由称为糖胺聚糖 (GAG) 的细胞外基质成分代谢所必需的酶缺乏引起。了解酶缺乏导致的溶酶体积累引起的生理病理学和改变及其次要结果,可以提高罕见遗传病的诊断和治疗水平。这项工作为来自不同公共 MPS 数据的差异表达基因提供了一个数据库。我们开发了我们的数据库,包括之前存放在 GEO 中的 13 项研究 (https://www.ncbi.nlm.nih.gov/geo/)。该网站托管在 UFRGS 数据处理中心 (CPD) 中,可在 <https://www.ufrgs.br/mpsbase/> 获取。该站点是用 PHP 构建的,分析是在 R 中进行的。Canis lupus familiaris , Homo sapiens , Mus musculus , and Rattus norvegicus. 用户可以按物种、MPS 类型或组织类型搜索差异表达的基因和本体。对于每次比较,可以使用包含 50 个最高差异表达基因的热图以及按生物过程、细胞成分、KEGG 途径和分子功能划分的 30 个顶级本体的点图。这些数据在表格中也完全​​可用。有 54 种可能的比较,每个比较涉及大约 5000 到 10,000 个基因。本网站是 MPS 唯一的特定数据库,据我们所知,它可以通过一键式方法过滤和显示其结果。开发这种可供卫生专业人员使用的分析和自动化策略对于促进 MPS 研究至关重要。MPSBase 是一个网络用户友好的,

更新日期:2021-07-15
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