Abstract：
:We conducted genetic analysis of the fused in sarcoma gene (FUS) in Chinese Han patients with essential tremor (ET) in a case-control association study. One hundred eighty unrelated patients with ET were screened for mutations in the coding region and exon-intron boundaries of FUS. Reverse transcriptase polymerase chain reaction analysis was performed to evaluate if the c.1176G>A variant results in change of splice site. Two hundred seventy-three normal control subjects were also analyzed when DNA variants were identified in ET cohort. A novel missense mutation, c.1176G>A (p.M392I), in FUS was identified in a 62-year-old patient. Four known variants (c.52C>A, p.P18T; c.147C>A, p.G49G; c.291T>C, p.Y97Y; c.684C>T, p.G228G) were observed in the case-control study without statistically significant differences in genotype and allele distributions. Mutation(s) in FUS might be associated with a small subset of ET cases in the Chinese population.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Zheng W,Deng X,Liang H,Song Z,Gao K,Yang Y,Deng Hdoi
10.1016/j.neurobiolaging.2013.03.001subject
Has Abstractpub_date
2013-08-01 00:00:00pages
2078.e3-4issue
8eissn
0197-4580issn
1558-1497pii
S0197-4580(13)00101-2journal_volume
34pub_type
杂志文章abstract：:A group of 51 healthy elderly volunteer subjects participated in a 3- to 6-year longitudinal study of basal cortisol levels. Once per year basal cortisol levels were examined using hourly sampling over a 24-h period. Analyses of three cortisol measures (last measure obtained, mean cortisol levels across years, and the...
journal_title：Neurobiology of aging
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journal_title：Neurobiology of aging
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journal_title：Neurobiology of aging
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journal_title：Neurobiology of aging
pub_type： 杂志文章
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journal_title：Neurobiology of aging
pub_type： 杂志文章
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journal_title：Neurobiology of aging
pub_type： 杂志文章
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更新日期：2005-08-01 00:00:00
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journal_title：Neurobiology of aging
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更新日期：2003-10-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2014.08.022
更新日期：2015-01-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章
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更新日期：2020-10-01 00:00:00
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journal_title：Neurobiology of aging
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doi：10.1016/j.neurobiolaging.2005.03.025
更新日期：2006-05-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章,评审
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更新日期：2017-08-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2008.07.014
更新日期：2010-06-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章,评审
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更新日期：2013-01-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 临床试验,杂志文章
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journal_title：Neurobiology of aging
pub_type： 杂志文章
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journal_title：Neurobiology of aging
pub_type： 杂志文章
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更新日期：1981-10-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2012.04.009
更新日期：2013-02-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章
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journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2008.02.017
更新日期：2009-12-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/s0197-4580(98)00060-8
更新日期：1998-05-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章
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更新日期：2012-04-01 00:00:00
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journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/0197-4580(85)90029-6
更新日期：1985-07-01 00:00:00
abstract：:Brain-specific glutathione S-transferase Mu 3 (GSTM3) colocalizes with amyloid-beta plaques in Alzheimer's disease (AD). A functional polymorphism rs7483 in GSTM3 may contribute to the decrease in GSTM3 expression in AD. The association of the rs7483 SNP with late-onset AD and mild cognitive impairment (MCI) was evalu...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2008.03.007
更新日期：2010-01-01 00:00:00
