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What is a functional genetic polymorphism? Defining classes of functionality.

作者信息

Albert Paul R

出版信息

J Psychiatry Neurosci. 2011 Nov;36(6):363-5. doi: 10.1503/jpn.110137.

DOI:10.1503/jpn.110137
PMID:22011561
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3201989/
Abstract
摘要

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本文引用的文献

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Hypothesis-driven candidate genes for schizophrenia compared to genome-wide association results.精神分裂症的假说驱动候选基因与全基因组关联研究结果的比较。
Psychol Med. 2012 Mar;42(3):607-16. doi: 10.1017/S0033291711001607. Epub 2011 Aug 19.
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Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy.RNA 世界的药物基因组学：药物治疗中的结构 RNA 多态性。
Clin Pharmacol Ther. 2011 Mar;89(3):355-65. doi: 10.1038/clpt.2010.314. Epub 2011 Feb 2.
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The serotonin transporter promoter variant (5-HTTLPR), stress, and depression meta-analysis revisited: evidence of genetic moderation.血清素转运体启动子变体（5-HTTLPR）、压力与抑郁的元分析再探讨：基因调节的证据
Arch Gen Psychiatry. 2011 May;68(5):444-54. doi: 10.1001/archgenpsychiatry.2010.189. Epub 2011 Jan 3.
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Intronic polymorphisms affecting alternative splicing of human dopamine D2 receptor are associated with cocaine abuse.内含子多态性影响人类多巴胺 D2 受体的可变剪接，与可卡因滥用有关。
Neuropsychopharmacology. 2011 Mar;36(4):753-62. doi: 10.1038/npp.2010.208. Epub 2010 Dec 8.
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is-rSNP: a novel technique for in silico regulatory SNP detection.is-rSNP：一种用于计算的调控 SNP 检测的新方法。
Bioinformatics. 2010 Sep 15;26(18):i524-30. doi: 10.1093/bioinformatics/btq378.
6
Higher serotonin 1A binding in a second major depression cohort: modeling and reference region considerations.第二次重度抑郁症队列中较高的 5-羟色胺 1A 结合：建模和参照区考虑。
Biol Psychiatry. 2010 Jul 15;68(2):170-8. doi: 10.1016/j.biopsych.2010.03.023. Epub 2010 May 23.
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Dendritic trafficking of BDNF mRNA is mediated by translin and blocked by the G196A (Val66Met) mutation.脑源性神经营养因子（BDNF）信使核糖核酸（mRNA）的树突运输由反式转运蛋白介导，并被G196A（Val66Met）突变阻断。
Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16481-6. doi: 10.1073/pnas.0902833106. Epub 2009 Sep 9.
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Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia.多巴胺受体D2基因的功能变异调节精神分裂症的前额叶 - 纹状体表型。
Brain. 2009 Feb;132(Pt 2):417-25. doi: 10.1093/brain/awn248. Epub 2008 Oct 1.
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Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies.调控基因组区域功能性单核苷酸多态性的发现与验证：当前技术与发展中的技术
Mutat Res. 2008 Jul-Aug;659(1-2):147-57. doi: 10.1016/j.mrrev.2008.05.001. Epub 2008 May 4.
10
Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory.人类多巴胺D2受体基因的多态性在工作记忆过程中影响基因表达、剪接和神经元活动。
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