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从床边研究到实验台研究,再回归床边。

Research from the bedside to the lab bench & back.

作者信息

White Robert A, Silvey Michael, Logsdon Derek P

机构信息

Department of Biochemistry, Kansas City University of Medicine and Biosciences, USA.

出版信息

Mo Med. 2012 May-Jun;109(3):195-8.

PMID:22860286
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6179705/
Abstract

Transgenic mice represent a unique opportunity in biomedical research to discover the genes underlying disease and understand how manipulating the function of single genes and proteins alters physiology in a whole animal system. These advances in biomedical research may accelerate the time between when basic discoveries are made and when the research can be 'translated', that is, when the research will positively impact the lives of patients. The purpose of this article is to present some examples of promising mouse models of human diseases.

摘要

转基因小鼠在生物医学研究中提供了一个独特的契机,可用于发现引发疾病的基因,并了解操纵单个基因和蛋白质的功能如何在整个动物系统中改变生理学特性。生物医学研究中的这些进展可能会缩短从做出基础发现到研究能够“转化”(即研究将对患者生活产生积极影响)之间的时间。本文旨在列举一些有前景的人类疾病小鼠模型实例。

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1
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Mo Med. 2012 May-Jun;109(3):195-8.
2
Animal models of hereditary hematologic disease.
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本文引用的文献

1
Update on iron chelators in thalassemia.地贫治疗中铁螯合剂的研究进展。
Hematology Am Soc Hematol Educ Program. 2010;2010:451-5. doi: 10.1182/asheducation-2010.1.451.
2
Iron-chelating therapy for transfusional iron overload.铁螯合疗法治疗输血引起的铁过载。
N Engl J Med. 2011 Jan 13;364(2):146-56. doi: 10.1056/NEJMct1004810.
3
Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model.红细胞特异性转录因子 KLF1 突变导致 Nan 溶血性贫血小鼠模型中的遗传性球形红细胞增多症。
Genomics. 2010 Nov;96(5):303-7. doi: 10.1016/j.ygeno.2010.07.009. Epub 2010 Aug 5.
4
Introduction of higher doses of deferasirox: better efficacy but not effective iron removal from the heart and increased risks of serious toxicities.介绍更高剂量的地拉罗司:疗效更好,但不能有效去除心脏中的铁,且严重毒性风险增加。
Expert Opin Drug Saf. 2010 Jul;9(4):633-41. doi: 10.1517/14740338.2010.497138.
5
Iron chelation therapy in hereditary hemochromatosis and thalassemia intermedia: regulatory and non regulatory mechanisms of increased iron absorption.遗传性血色素沉着症和中间型地中海贫血中的铁螯合疗法:铁吸收增加的调节和非调节机制
Hemoglobin. 2010 Jun;34(3):251-64. doi: 10.3109/03630269.2010.486335.
6
Renal dysfunction in patients with beta-thalassemia major receiving iron chelation therapy either with deferoxamine and deferiprone or with deferasirox.接受去铁胺和地拉罗司或去铁酮螯合铁治疗的重型β地中海贫血患者的肾功能障碍。
Acta Haematol. 2010;123(3):148-52. doi: 10.1159/000287238. Epub 2010 Feb 24.
7
Hematologic characterization and chromosomal localization of the novel dominantly inherited mouse hemolytic anemia, neonatal anemia (Nan).
Blood Cells Mol Dis. 2009 Sep-Oct;43(2):141-8. doi: 10.1016/j.bcmd.2009.03.009. Epub 2009 May 1.
8
Disorders of red cell membrane.红细胞膜疾病
Br J Haematol. 2008 May;141(3):367-75. doi: 10.1111/j.1365-2141.2008.07091.x. Epub 2008 Mar 12.
9
Improvement in survival and muscle function in an mdx/utrn(-/-) double mutant mouse using a human retinal dystrophin transgene.使用人类视网膜肌营养不良蛋白转基因改善mdx/utrn(-/-)双突变小鼠的存活率和肌肉功能。
Neuromuscul Disord. 2006 Mar;16(3):192-203. doi: 10.1016/j.nmd.2005.12.007. Epub 2006 Feb 17.
10
Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.Ttc7基因的定位克隆,该基因是正常铁稳态所必需的,且在hea和fsn贫血小鼠中发生了突变。
Genomics. 2005 Mar;85(3):330-7. doi: 10.1016/j.ygeno.2004.11.008.