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猫图:让白内障受到关注。

Cat-Map: putting cataract on the map.

作者信息

Shiels Alan, Bennett Thomas M, Hejtmancik J Fielding

机构信息

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA.

出版信息

Mol Vis. 2010 Oct 8;16:2007-15.

PMID:21042563
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2965572/
Abstract

Lens opacities, or cataract(s), may be inherited as a classic Mendelian disorder usually with early-onset or, more commonly, acquired with age as a multi-factorial or complex trait. Many genetic forms of cataract have been described in mice and other animal models. Considerable progress has been made in mapping and identifying the genes and mutations responsible for inherited forms of cataract, and genetic determinants of age-related cataract are beginning to be discovered. To provide a convenient and accurate summary of current information focused on the increasing genetic complexity of Mendelian and age-related cataract we have created an online chromosome map and reference database for cataract in humans and mice (Cat-Map).

摘要

晶状体混浊,即白内障,可能作为一种典型的孟德尔遗传病遗传,通常发病较早,或者更常见的是随着年龄增长而获得,是一种多因素或复杂性状。在小鼠和其他动物模型中已经描述了许多遗传形式的白内障。在绘制和鉴定导致遗传性白内障的基因和突变方面已经取得了相当大的进展,与年龄相关的白内障的遗传决定因素也开始被发现。为了方便、准确地总结当前聚焦于孟德尔式和年龄相关性白内障日益增加的遗传复杂性的信息,我们创建了一个人类和小鼠白内障的在线染色体图谱和参考数据库(白内障图谱)。

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本文引用的文献

1
Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of type 2 diabetes with cataract.3号染色体p14.1 - p14.2区域的单核苷酸多态性与2型糖尿病合并白内障的易感性相关。
Mol Vis. 2010 Jul 1;16:1206-14.
2
Association between gap junction protein-alpha 8 polymorphisms and age-related cataract.缝隙连接蛋白-α 8 多态性与年龄相关性白内障的关联。
Mol Biol Rep. 2011 Feb;38(2):1301-7. doi: 10.1007/s11033-010-0230-z. Epub 2010 Jun 27.
3
A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.一个中国家族中常染色体显性先天性冠状动脉性白内障的新基因座定位于3号染色体长臂。
Mol Vis. 2010 May 19;16:874-9.
4
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.在一个巴基斯坦近亲家庭中,常染色体隐性先天性白内障与EPHA2相关。
Mol Vis. 2010 Mar 24;16:511-7.
5
The association between copy number variations in glutathione S-transferase M1 and T1 and age-related cataract in a Han Chinese population.谷胱甘肽 S-转移酶 M1 和 T1 基因拷贝数变异与汉族人群年龄相关性白内障的关联。
Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3924-8. doi: 10.1167/iovs.10-5240. Epub 2010 Mar 24.
6
Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.SLC16A12 5'非翻译区的改变导致年龄相关性白内障。
Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3354-61. doi: 10.1167/iovs.10-5193. Epub 2010 Feb 24.
7
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.在一个巴基斯坦家庭中发现常染色体隐性先天性白内障的一个新基因座。
Mol Vis. 2010 Feb 16;16:240-5.
8
Mouse models of cataract.白内障的小鼠模型。
J Genet. 2009 Dec;88(4):469-86. doi: 10.1007/s12041-009-0066-2.
9
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice.Pitx3(416insG)小鼠的小眼、帕金森病和痛觉过敏增强。
Mamm Genome. 2010 Feb;21(1-2):13-27. doi: 10.1007/s00335-009-9235-0. Epub 2009 Dec 22.
10
Database resources of the National Center for Biotechnology Information.国家生物技术信息中心数据库资源。
Nucleic Acids Res. 2010 Jan;38(Database issue):D5-16. doi: 10.1093/nar/gkp967. Epub 2009 Nov 12.