Protein Variations Associated with Down's Syndrome, Chromosome 21, and Alzheimer's Disease *
Protein Variations Associated with Down's Syndrome, Chromosome 21, and Alzheimer's Disease *
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与唐氏综合症、21 号染色体和阿尔茨海默病相关的蛋白质变异 *
DOI：
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发表时间：
1982
影响因子：
5.2
通讯作者：
C. Merril
中科院分区：
文献类型：
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作者：
M. L. Keuren;D. Goldman;C. Merril
21 号染色体的 N 额外拷贝（一条小的近端着丝粒染色体 A 或其特定片段）是导致唐氏综合症的原因。这种综合征的特点是智力低下、中度生长迟缓、内眦赘皮、猿掌皱褶、肌张力低下、白血病发病率增加以及一些过早衰老的迹象。唐氏综合症中发现的异常现象也与过早衰老有关，包括对肿瘤的易感性增加、糖尿病、白内障发病率增加，以及与阿尔茨海默病相似的退行性脑损伤痴呆症。我们的实验室正在利用高分辨率二维电泳来寻找阿尔茨海默病的特征特异性蛋白质标记。鉴于唐氏综合症中发现的脑损伤，如果在唐氏综合症中发现的一些蛋白质变异体可能会令人感兴趣
N EXTRA COPY of chromosome 21, a small acrocentric chromosome, A or a specific segment of it , is the cause of the disorder known as Down’s syndrome. This syndrome is characterized by mental retardation, moderate growth retardation, epicanthal eye folds, simian palmar crease, muscle hypotonia, an increased incidence of leukemia, and some signs of premature aging. Abnormalities found in Down’s syndrome that are also associated with premature aging include increased susceptibility to neoplasms, diabetes mellitus, increased frequency of cataracts, and dementia with degenerative brain lesions similar to those found in Alzheimer’s disease.’ A search for trait-specific protein markers in Alzheimer’s disease, with the use of high resolution two-dimensional electrophoresis,z is being conducted in our laboratory. Given the brain lesions found in Down’s syndrome, it may be of interest if some of the protein variants found in
使用计算机二维凝胶电泳对人超氧化物歧化酶进行定位和定量。
DOI：
10.1016/s0006-291x(81)80185-4
发表时间：
1981
影响因子：
3.1
作者：
Brown,WT;Dutkowski,R;Darlington,GJ
通讯作者：
Darlington,GJ
使用体细胞杂交体和单克隆抗 L 抗体将人类肝型 6-磷酸果糖激酶同工酶 (PFKL) 基因分配至 21 号染色体。
DOI：
10.1073/pnas.78.6.3738
发表时间：
1981
影响因子：
11.1
作者：
Vora,S;Francke,U
通讯作者：
Francke,U