在一个小家庭中，NPAS3基因的突变与精神疾病相关。 - Suppr

A mutation in NPAS3 segregates with mental illness in a small family.

作者信息

Yu L, Arbez N, Nucifora L G, Sell G L, Delisi L E, Ross C A, Margolis R L, Nucifora F C

机构信息

Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

出版信息

Mol Psychiatry. 2014 Jan;19(1):7-8. doi: 10.1038/mp.2012.192. Epub 2013 Jan 22.

DOI:10.1038/mp.2012.192

PMID:23337948

Abstract

摘要

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A mutation in NPAS3 segregates with mental illness in a small family.在一个小家庭中，NPAS3基因的突变与精神疾病相关。

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NPAS3 variants in schizophrenia: a neuroimaging study.NPAS3 变异与精神分裂症：一项神经影像学研究。

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Association of NPAS3 exonic variation with schizophrenia.NPAS3 外显子变异与精神分裂症的关联。

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Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability.一种大脑转录因子NPAS3的破坏与精神分裂症和学习障碍有关。

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Characterization of npas3, a novel basic helix-loop-helix PAS gene expressed in the developing mouse nervous system.npas3的特征分析，npas3是一种在发育中的小鼠神经系统中表达的新型碱性螺旋-环-螺旋PAS基因。

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本文引用的文献

Transcriptional regulation of neurodevelopmental and metabolic pathways by NPAS3.NPAS3 对神经发育和代谢途径的转录调控。

Mol Psychiatry. 2012 Mar;17(3):267-79. doi: 10.1038/mp.2011.73. Epub 2011 Jun 28.

Association of NPAS3 exonic variation with schizophrenia.NPAS3 外显子变异与精神分裂症的关联。

Schizophr Res. 2010 Jul;120(1-3):143-9. doi: 10.1016/j.schres.2010.04.002. Epub 2010 May 14.

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.全基因组关联协作分析支持ANK3和CACNA1C在双相情感障碍中的作用。

Nat Genet. 2008 Sep;40(9):1056-8. doi: 10.1038/ng.209.

Association of the NPAS3 gene and five other loci with response to the antipsychotic iloperidone identified in a whole genome association study.全基因组关联研究中确定的NPAS3基因及其他五个基因座与抗精神病药物伊潘立酮反应的关联

Mol Psychiatry. 2009 Aug;14(8):804-19. doi: 10.1038/mp.2008.56. Epub 2008 Jun 3.

Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder.NPAS3基因座处相互作用的单倍型改变精神分裂症和双相情感障碍的风险。

Mol Psychiatry. 2009 Sep;14(9):874-84. doi: 10.1038/mp.2008.24. Epub 2008 Mar 4.

Novel DNA binding by a basic helix-loop-helix protein. The role of the dioxin receptor PAS domain.一种碱性螺旋-环-螺旋蛋白的新型DNA结合。二噁英受体PAS结构域的作用。

J Biol Chem. 2006 May 5;281(18):12535-45. doi: 10.1074/jbc.M512145200. Epub 2006 Mar 6.

The neuronal PAS domain protein 3 transcription factor controls FGF-mediated adult hippocampal neurogenesis in mice.神经元PAS结构域蛋白3转录因子调控小鼠中FGF介导的成体海马神经发生。

Proc Natl Acad Sci U S A. 2005 Sep 27;102(39):14052-7. doi: 10.1073/pnas.0506713102. Epub 2005 Sep 19.

Disruption of the neuronal PAS3 gene in a family affected with schizophrenia.在一个患精神分裂症的家族中神经元PAS3基因的破坏。

J Med Genet. 2003 May;40(5):325-32. doi: 10.1136/jmg.40.5.325.

Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth.精神分裂症相关基因1（DISC-1）：突变截短会阻止其与类NudE蛋白（NUDEL）结合，并抑制神经突生长。

Proc Natl Acad Sci U S A. 2003 Jan 7;100(1):289-94. doi: 10.1073/pnas.0136913100. Epub 2002 Dec 27.

A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder.对382对患有精神分裂症或分裂情感性障碍的同胞进行全基因组扫描，以寻找与染色体区域的连锁关系。

Am J Psychiatry. 2002 May;159(5):803-12. doi: 10.1176/appi.ajp.159.5.803.

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A mutation in NPAS3 segregates with mental illness in a small family.

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