对帕金森病氧化应激未利用基因的系统探索。

IF 6.7 1区 医学 Q1 NEUROSCIENCES NPJ Parkinson's Disease Pub Date : 2024-08-17 DOI:10.1038/s41531-024-00776-1
Takayuki Suzuki, Hidemasa Bono
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引用次数: 0

摘要

人类疾病相关基因数据可通过开放靶标平台、DisGeNET、miRTex、RNADisease 和 PubChem 等数据库获取。然而,由于编辑错误、偏差和文本挖掘失败等原因,这些数据库中的数据条目预计会有缺失。此外,对人类疾病的广泛研究也给注册全面数据带来了挑战。数据库中基本数据的缺失阻碍了知识共享,应该加以解决。因此,我们提出了一个分析管道,用于探索人类疾病相关基因数据库中未开发基因的缺失条目。利用这一管道分析帕金森病氧化应激基因,发现了两个未开发的基因:核蛋白 1(NUPR1)和具有 PHD 和环指结构域的泛素样 2(UHRF2)。这种方法提高了对代表性不足的疾病相关基因的识别能力,从而更容易获得潜在的人类疾病相关功能基因。本研究旨在为进一步研究确定未开发的基因,不包括独立的实验验证。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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A systematic exploration of unexploited genes for oxidative stress in Parkinson's disease.

Human disease-associated gene data are accessible through databases, including the Open Targets Platform, DisGeNET, miRTex, RNADisease, and PubChem. However, missing data entries in such databases are anticipated because of curational errors, biases, and text-mining failures. Additionally, the extensive research on human diseases has led to challenges in registering comprehensive data. The lack of essential data in databases hinders knowledge sharing and should be addressed. Therefore, we propose an analysis pipeline to explore missing entries of unexploited genes in the human disease-associated gene databases. Using this pipeline for genes in Parkinson's disease with oxidative stress revealed two unexploited genes: nuclear protein 1 (NUPR1) and ubiquitin-like with PHD and ring finger domains 2 (UHRF2). This methodology enhances the identification of underrepresented disease-associated genes, facilitating easier access to potential human disease-related functional genes. This study aims to identify unexploited genes for further research and does not include independent experimental validation.

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来源期刊
NPJ Parkinson's Disease
NPJ Parkinson's Disease Medicine-Neurology (clinical)
CiteScore
9.80
自引率
5.70%
发文量
156
审稿时长
11 weeks
期刊介绍: npj Parkinson's Disease is a comprehensive open access journal that covers a wide range of research areas related to Parkinson's disease. It publishes original studies in basic science, translational research, and clinical investigations. The journal is dedicated to advancing our understanding of Parkinson's disease by exploring various aspects such as anatomy, etiology, genetics, cellular and molecular physiology, neurophysiology, epidemiology, and therapeutic development. By providing free and immediate access to the scientific and Parkinson's disease community, npj Parkinson's Disease promotes collaboration and knowledge sharing among researchers and healthcare professionals.
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