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MDPD: an integrated genetic information resource for Parkinson's disease.MDPD:帕金森病的综合遗传信息资源。
Nucleic Acids Res. 2009 Jan;37(Database issue):D858-62. doi: 10.1093/nar/gkn770. Epub 2008 Oct 23.
2
PDbase: a database of Parkinson's disease-related genes and genetic variation using substantia nigra ESTs.PDbase:一个使用黑质 EST 构建的帕金森病相关基因和遗传变异数据库。
BMC Genomics. 2009 Dec 3;10 Suppl 3(Suppl 3):S32. doi: 10.1186/1471-2164-10-S3-S32.
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MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease.MDSGene:填补单基因帕金森病基因型-表型相关性中的数据空白。
J Parkinsons Dis. 2018;8(s1):S25-S30. doi: 10.3233/JPD-181505.
4
[Etiology and pathogenesis of Parkinson's disease: from mitochondrial dysfunctions to familial Parkinson's disease].帕金森病的病因与发病机制:从线粒体功能障碍到家族性帕金森病
Rinsho Shinkeigaku. 2004 Apr-May;44(4-5):241-62.
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Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.中国汉族帕金森病患者RAB39B基因的遗传分析。
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Lancet Neurol. 2006 Nov;5(11):911-6. doi: 10.1016/S1474-4422(06)70578-6.
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Database (Oxford). 2011 May 18;2011:bar007. doi: 10.1093/database/bar007. Print 2011.
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PDON: Parkinson's disease ontology for representation and modeling of the Parkinson's disease knowledge domain.帕金森病本体:用于帕金森病知识领域表示与建模的帕金森病本体
Theor Biol Med Model. 2015 Sep 22;12:20. doi: 10.1186/s12976-015-0017-y.
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Neurol India. 2018 Nov-Dec;66(6):1649-1654. doi: 10.4103/0028-3886.246249.

引用本文的文献

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Gene4PD: A Comprehensive Genetic Database of Parkinson's Disease.Gene4PD:帕金森病综合遗传数据库。
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Nucleic Acids Res. 2017 Jan 4;45(D1):D902-D907. doi: 10.1093/nar/gkw1038. Epub 2016 Nov 28.
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Network and Pathway-Based Analyses of Genes Associated with Parkinson's Disease.基于网络和通路的帕金森病相关基因分析。
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Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients.西孟加拉邦帕金森病患者中PARKIN基因变异的评估。
J Hum Genet. 2015 Sep;60(9):485-92. doi: 10.1038/jhg.2015.49. Epub 2015 May 28.
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A molecular explanation for the recessive nature of parkin-linked Parkinson's disease.帕金森病相关的 parkin 基因隐性遗传的分子解释。
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CIDeR: multifactorial interaction networks in human diseases.CIDeR:人类疾病中的多因素相互作用网络
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7
PDbase: a database of Parkinson's disease-related genes and genetic variation using substantia nigra ESTs.PDbase:一个使用黑质 EST 构建的帕金森病相关基因和遗传变异数据库。
BMC Genomics. 2009 Dec 3;10 Suppl 3(Suppl 3):S32. doi: 10.1186/1471-2164-10-S3-S32.
8
Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies.实现个性化医学的承诺?药物遗传学研究的系统评价和领域概述。
PLoS One. 2009 Dec 2;4(12):e7960. doi: 10.1371/journal.pone.0007960.

本文引用的文献

1
Reporting of human genome epidemiology (HuGE) association studies: an empirical assessment.人类基因组流行病学(HuGE)关联研究的报告:实证评估
BMC Med Res Methodol. 2008 May 20;8:31. doi: 10.1186/1471-2288-8-31.
2
Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients.早发性帕金森病巴西患者的遗传和环境研究结果。
Mov Disord. 2008 Jul 15;23(9):1228-33. doi: 10.1002/mds.22032.
3
Parkinson's disease in Arabs: a systematic review.阿拉伯人群中的帕金森病:一项系统综述。
Mov Disord. 2008 Jul 15;23(9):1205-10. doi: 10.1002/mds.22041.
4
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.GBA基因突变与帕金森病风险及发病之间的基因型-表型相关性。
Neurology. 2008 Jun 10;70(24):2277-83. doi: 10.1212/01.wnl.0000304039.11891.29. Epub 2008 Apr 23.
5
Human Gene Mutation Database: towards a comprehensive central mutation database.人类基因突变数据库:迈向全面的中央突变数据库。
J Med Genet. 2008 Feb;45(2):124-6. doi: 10.1136/jmg.2007.055210.
6
Exploring gene-environment interactions in Parkinson's disease.探索帕金森病中的基因-环境相互作用。
Hum Genet. 2008 Apr;123(3):257-65. doi: 10.1007/s00439-008-0466-z. Epub 2008 Jan 22.
7
GenBank.基因银行
Nucleic Acids Res. 2008 Jan;36(Database issue):D25-30. doi: 10.1093/nar/gkm929. Epub 2007 Dec 11.
8
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.葡萄糖脑苷脂酶基因突变与早发性帕金森病相关。
Neurology. 2007 Sep 18;69(12):1270-7. doi: 10.1212/01.wnl.0000276989.17578.02.
9
Epidemiologic studies of environmental exposures in Parkinson's disease.帕金森病环境暴露的流行病学研究。
J Neurol Sci. 2007 Nov 15;262(1-2):37-44. doi: 10.1016/j.jns.2007.06.024. Epub 2007 Jul 27.
10
Pink1, Parkin, DJ-1 and mitochondrial dysfunction in Parkinson's disease.Pink1、帕金蛋白、DJ-1与帕金森病中的线粒体功能障碍
Curr Opin Neurobiol. 2007 Jun;17(3):331-7. doi: 10.1016/j.conb.2007.04.010. Epub 2007 May 11.

MDPD:帕金森病的综合遗传信息资源。

MDPD: an integrated genetic information resource for Parkinson's disease.

作者信息

Tang Suisheng, Zhang Zhuo, Kavitha Gopalakrishnan, Tan Eng-King, Ng See Kiong

机构信息

Data Mining Department, Institute for Infocomm Research, Agency for Science, Technology and Research (A*STAR) and Department of Neurology, Singapore General Hospital, Singapore.

出版信息

Nucleic Acids Res. 2009 Jan;37(Database issue):D858-62. doi: 10.1093/nar/gkn770. Epub 2008 Oct 23.

DOI:10.1093/nar/gkn770
PMID:18948286
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2686576/
Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting millions of people. Both environmental and genetic factors play important roles in its causation and development. Genetic analysis has shown that over 100 genes are correlated with the etiology and pathology of PD. However, accessing genetic information in a consistent and fruitful way is not an easy task. The Mutation Database for Parkinson's Disease (MDPD) is designed to fulfill the need for information integration so that users can easily retrieve, inspect and enhance their knowledge on PD. The database contains 2391 entries on 202 genes extracted from 576 publications and manually examined by biomedical researchers. Each genetic substitution and the resulting impact are clearly labelled and linked to its primary reference. Every reported gene has a summary page that provides information on the variation impact, mutation type, the studied population, mutation position and reference collection. In addition, MDPD provides a unique functionality for users to compare the differences on the type of mutations among ethnic groups. As such, we hope that MDPD will serve as a valuable tool to bridge the gap between genetic analysis and clinical practice. MDPD is publicly accessible at http://datam.i2r.a-star.edu.sg/mdpd/.

摘要

帕金森病(PD)是第二常见的神经退行性疾病,影响着数百万人。环境和遗传因素在其病因和发展过程中都起着重要作用。基因分析表明,超过100个基因与帕金森病的病因和病理相关。然而,以一致且富有成效的方式获取基因信息并非易事。帕金森病突变数据库(MDPD)旨在满足信息整合的需求,以便用户能够轻松检索、查阅并增进对帕金森病的了解。该数据库包含从576篇出版物中提取的202个基因的2391条记录,并经过生物医学研究人员的人工审核。每个基因替代及其产生的影响都有明确标注,并与原始参考文献相关联。每个报告的基因都有一个摘要页面,提供有关变异影响、突变类型、研究人群、突变位置和参考文献集的信息。此外,MDPD为用户提供了一项独特功能,可比较不同种族之间突变类型的差异。因此,我们希望MDPD能成为弥合基因分析与临床实践之间差距的宝贵工具。可通过http://datam.i2r.a-star.edu.sg/mdpd/公开访问MDPD。