Animal models in the study of the biological function of genes on human chromosome 21 and their role in the pathophysiology of Down syndrome.
Animal models in the study of the biological function of genes on human chromosome 21 and their role in the pathophysiology of Down syndrome.
复制标题
研究人类 21 号染色体上基因的生物学功能及其在唐氏综合症病理生理学中的作用的动物模型。
作者：
I. Kola;P. Hertzog
Human chromosome 21 is the smallest human autosome and many important genetic/familial disorders map to this chromosome, e.g., familial amyotrophic lateral sclerosis (FALS), Down syndrome, Alzheimer's disease and some cases of Ewings sarcoma. Hence, the identification of genes localised to this chromosome and studies on their normal biological function and their role in disease is gaining momentum. The use of animal models to generate gain- and loss-of-function mutations is an important element of these studies on functionality/pathology and has yielded powerful insights. However, no animal model has yet been generated that exactly models any of the disorders associated with this chromosome. The major utility of the animal models has been to illuminate the biological functions of genes and the causation of pathophysiology of diseases associated with genes on this chromosome.
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DOI：
10.1016/0169-328x(95)00214-d
发表时间：
1996-01-01
期刊：
MOLECULAR BRAIN RESEARCH
影响因子：
--
作者：
Dewji, NN;Do, C
通讯作者：
Do, C
转基因小鼠中酵母人工染色体中人类 β-淀粉样蛋白前体蛋白基因的表达。
DOI：
10.1073/pnas.90.22.10578
发表时间：
1993
影响因子：
11.1
作者：
Pearson,BE;Choi,TK
通讯作者：
Choi,TK
影响因子：
3.5
作者：
deHaan, JB;Cristiano, F;Kola, I
通讯作者：
Kola, I
DOI：
10.1073/pnas.91.12.5359
发表时间：
1994-06-07
影响因子：
11.1
作者：
REEVES, RH;YAO, JB;HILT, DC
通讯作者：
HILT, DC
21q22.3 前脑无裂畸形关键区域的物理定位，排除 SIM2 作为前脑无裂畸形的候选基因，并将 SIM2 映射到 21 号染色体上对唐氏综合症很重要的区域。
影响因子：
9.8
作者：
Muenke,M;Bone,LJ;Mitchell,HF;Hart,I;Walton,K;Hall-Johnson,K;Ippel,EF;Dietz-Band,J;Kvaløy,K;Fan,CM
通讯作者：
Fan,CM