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本文引用的文献

1
A second generation human haplotype map of over 3.1 million SNPs.一张包含超过310万个单核苷酸多态性的第二代人类单倍型图谱。
Nature. 2007 Oct 18;449(7164):851-61. doi: 10.1038/nature06258.
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Replicating genotype-phenotype associations.复制基因型-表型关联。
Nature. 2007 Jun 7;447(7145):655-60. doi: 10.1038/447655a.
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Mood-incongruent psychotic features in bipolar disorder: familial aggregation and suggestive linkage to 2p11-q14 and 13q21-33.双相情感障碍中的心境不协调性精神病性特征:家族聚集性以及与2p11-q14和13q21-33的潜在连锁关系
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Size matters: the unexpected challenge of detecting linkage in large cohorts.规模很重要:在大型队列中检测连锁关系面临的意外挑战。
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Genome scan of Han Chinese schizophrenia families from Taiwan: confirmation of linkage to 10q22.3.来自台湾汉族精神分裂症家系的基因组扫描:与10q22.3连锁的确认。
Am J Psychiatry. 2006 Oct;163(10):1760-6. doi: 10.1176/ajp.2006.163.10.1760.
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Fine mapping by genetic association implicates the chromosome 1q23.3 gene UHMK1, encoding a serine/threonine protein kinase, as a novel schizophrenia susceptibility gene.通过基因关联进行的精细定位表明,位于1号染色体1q23.3区域、编码丝氨酸/苏氨酸蛋白激酶的基因UHMK1是一个新的精神分裂症易感基因。
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Making the case for a candidate vulnerability gene in schizophrenia: Convergent evidence for regulator of G-protein signaling 4 (RGS4).为精神分裂症中的一个候选易感性基因提供依据:G蛋白信号调节因子4(RGS4)的聚合证据。
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精神分裂症中的一氧化氮合酶1适配蛋白(NOS1AP)

NOS1AP in schizophrenia.

作者信息

Brzustowicz Linda M

机构信息

Department of Genetics, Rutgers University, Life Sciences Building, Room 231, 145 Bevier Road, Piscataway, NJ 08854, USA.

出版信息

Curr Psychiatry Rep. 2008 Apr;10(2):158-63. doi: 10.1007/s11920-008-0027-0.

DOI:10.1007/s11920-008-0027-0
PMID:18474209
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3987957/
Abstract

NOS1AP is an attractive candidate gene for schizophrenia susceptibility. Linkage and association studies from multiple samples drawn from different populations indicate that a schizophrenia susceptibility gene is located in the region of chromosome 1 containing NOS1AP. Increased NOS1AP expression is observed in postmortem samples from individuals with schizophrenia. NOS1AP binds to neuronal nitric oxide synthase and synapsin, other candidate genes for schizophrenia, and may disrupt signal transduction through the N-methyl d-aspartate receptor complex, leading to hypofunctioning of that system. In this review, I present the evidence supporting NOS1AP as a schizophrenia susceptibility gene, with a focus on explaining the strengths and weaknesses of the evidence obtained from each type of study that has been conducted.

摘要

一氧化氮合酶1适配蛋白(NOS1AP)是精神分裂症易感性的一个颇具吸引力的候选基因。来自不同人群的多个样本的连锁和关联研究表明,一个精神分裂症易感基因位于包含NOS1AP的1号染色体区域。在精神分裂症患者的尸检样本中观察到NOS1AP表达增加。NOS1AP与神经元型一氧化氮合酶和突触素(精神分裂症的其他候选基因)结合,并可能破坏通过N-甲基-D-天冬氨酸受体复合物的信号转导,导致该系统功能减退。在这篇综述中,我展示了支持NOS1AP作为精神分裂症易感基因的证据,重点是解释从已进行的每种类型研究中获得的证据的优缺点。