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INVOLVEMENT OF ADAPT78 IN DOWN SYNDROME

ADAPT78 与唐氏综合症的关系

基本信息

批准号：
2857490
负责人：
DANA R CRAWFORD
金额：
$ 7.75万
依托单位：
ALBANY MEDICAL COLLEGE
依托单位国家：
美国
项目类别：
财政年份：
1998
资助国家：
美国
起止时间：
1998-01-01 至 2001-12-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/2857490
关键词：
Downs syndrome complementary DNA cytomegalovirus disease /disorder etiology genetic promoter element genetically modified animals human genetic material tag laboratory mouse polymerase chain reaction protein structure function stress proteins virus genetics

项目摘要

DESCRIPTION: (Adapted from applicant's description) Dr. Crawford's laboratory has recently identified a number of genes that are induced by oxidative and other stress in hamster HA-1 cells using the method of differential display. When one of these, named adapt78, was cloned and sequenced, it was found to be homologous to a recently reported gene, DSCR1, located in the obligate region of HSA21 where genes associated with Down syndrome, Alzheimer's disease, and other neural disorders are localized. In addition, higher expression of adapt78/DSCR1 mRNA was found in both brain and heart and may be related developmentally to mental retardation and congenital heart disease that are major clinical features of patients with Down syndrome. Thus, adapt78 represents a gene whose overexpression in Down syndrome may produce specific pathogenetic effects due to gene dosage in the trisomic condition. Dr. Crawford proposes specific studies in this RO3 application to determine whether adapt78 plays a role in the etiology of Down syndrome and other stress-related disorders. He proposes to have the NICHD-supported transgenic mouse facility at Alabama generate mice that express human adapt78, following microinjection of a cDNA of human adapt78 under the control of the CMV promoter. Mice identified as positive by PCR will then be studied to determine whether they express adapt78 mRNA, to what level, and in what tissues.

描述：（根据申请人描述改编）Crawford博士的

项目成果

期刊论文数量（5）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Redox response of the endogenous calcineurin inhibitor Adapt 78.

内源性钙调神经磷酸酶抑制剂 Adapt 78 的氧化还原反应。

DOI：
10.1016/j.freeradbiomed.2005.03.036
发表时间：
2005
期刊：
Free radical biology & medicine.
影响因子：
0
作者：
Narayan,AnanthV;Stadel,Rebecca;Hahn,AmyB;Bhoiwala,DiptiL;Cornielle,Geysha;Sarazin,Erwin;Koleilat,Issam;Crawford,DanaR
通讯作者：
Crawford,DanaR

Multiple oxidative stress-response members of the Adapt78 family.

Adapt78 家族的多个氧化应激反应成员。

DOI：
10.1016/j.freeradbiomed.2004.05.014
发表时间：
2004
期刊：
Free radical biology & medicine
影响因子：
7.4
作者：
Michtalik,HenryJ;Narayan,AnanthV;Bhatt,Nishant;Lin,HY;Mulligan,MichaelT;Zhang,ShenLi;Crawford,DanaR
通讯作者：
Crawford,DanaR

DSCR1 (ADAPT78) lethality: evidence for a protective effect of trisomy 21 genes?

DSCR1 (ADAPT78) 致死性：21 三体基因保护作用的证据？