• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Human diseases associated with defective DNA excision repair.与DNA切除修复缺陷相关的人类疾病。
J R Coll Physicians Lond. 1991 Oct;25(4):300-3.
2
DNA repair. Seven genes for three diseases.
Nature. 1991 Mar 21;350(6315):190. doi: 10.1038/350190a0.
3
Transcription-coupled repair and human disease.转录偶联修复与人类疾病。
Science. 1994 Dec 23;266(5193):1957-8. doi: 10.1126/science.7801121.
4
Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the diseases?着色性干皮病、科凯恩综合征和毛发硫营养不良：这些基因能解释这些疾病吗？
Trends Genet. 1996 May;12(5):187-92. doi: 10.1016/0168-9525(96)10021-4.
5
[DNA repair and related diseases].
Pathol Biol (Paris). 1992 Feb;40(2):169-77.
6
Multiple involvement of nucleotide excision repair enzymes: clinical manifestations of molecular intricacies.核苷酸切除修复酶的多重参与：分子复杂性的临床表现
Cytokines Mol Ther. 1996 Jun;2(2):115-9.
7
Human cancer and DNA repair-deficient diseases.人类癌症与DNA修复缺陷疾病。
Cancer Detect Prev. 1997;21(5):406-11.
8
Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect.解析人类DNA修复：修复缺陷的分子机制及后果
Crit Rev Biochem Mol Biol. 2001;36(3):261-90. doi: 10.1080/20014091074192.
9
[Xeroderma pigmentosum and related syndromes].[着色性干皮病及相关综合征]
Hautarzt. 2003 Jan;54(1):33-40. doi: 10.1007/s00105-002-0464-3. Epub 2002 Dec 20.
10
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.紫外线敏感疾病中的突变总结：着色性干皮病、科凯恩综合征和毛发硫营养不良。
Hum Mutat. 1999;14(1):9-22. doi: 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6.

本文引用的文献

1
Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light.毛发硫营养不良症，一种人类DNA修复障碍疾病，其对紫外线的细胞反应具有异质性。
Cancer Res. 1988 Nov 1;48(21):6090-6.
2
The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.科凯恩综合征的基因缺陷与转录活跃DNA中紫外线诱导的DNA损伤修复缺陷有关。
Proc Natl Acad Sci U S A. 1990 Jun;87(12):4707-11. doi: 10.1073/pnas.87.12.4707.
3
Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy.DNA修复缺陷型遗传性皮肤病（着色性干皮病、科凯恩综合征和毛发硫营养不良）中的免疫功能、突变频率和癌症风险。
J Invest Dermatol. 1990 Jan;94(1):94-100. doi: 10.1111/1523-1747.ep12873952.
4
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.对一个参与A型着色性干皮病且含有锌指结构域的人类DNA切除修复基因的分析。
Nature. 1990 Nov 1;348(6296):73-6. doi: 10.1038/348073a0.
5
Use of in vivo and in vitro assays for the characterization of mammalian excision repair and isolation of repair proteins.利用体内和体外试验对哺乳动物切除修复进行表征并分离修复蛋白。
Mutat Res. 1990 Sep-Nov;236(2-3):223-38. doi: 10.1016/0921-8777(90)90007-r.
6
ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3.
EMBO J. 1990 May;9(5):1437-47. doi: 10.1002/j.1460-2075.1990.tb08260.x.
7
Nucleotide excision repair in Escherichia coli.大肠杆菌中的核苷酸切除修复
Microbiol Rev. 1990 Mar;54(1):18-51. doi: 10.1128/mr.54.1.18-51.1990.
8
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.由ERCC - 3编码的一种假定的DNA解旋酶与人类修复障碍疾病色素性干皮病和科凯恩综合征有关。
Cell. 1990 Aug 24;62(4):777-91. doi: 10.1016/0092-8674(90)90122-u.
9
DNA excision repair in mammalian cell extracts.哺乳动物细胞提取物中的DNA切除修复
Bioessays. 1991 Sep;13(9):447-53. doi: 10.1002/bies.950130904.

与DNA切除修复缺陷相关的人类疾病。

Human diseases associated with defective DNA excision repair.

作者信息

Wood R D

机构信息

Imperial Cancer Research Fund, South Mimms.

出版信息

J R Coll Physicians Lond. 1991 Oct;25(4):300-3.

PMID:1960684
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5377154/
Abstract

DNA excision repair is the process used by cells to remove damage from DNA such as that caused by ultraviolet light and many chemicals. Dysfunction of excision repair in humans can lead to heritable diseases in which individuals are sensitive to mutagens, and have an increased risk of skin cancer. The best studied syndrome of this type is xeroderma pigmentosum. Recent research has revealed the genes which encode several different components of DNA excision repair. Work has begun on the protein products encoded by these genes, with the aim of elucidating the detailed biochemical mechanism of the DNA excision repair pathway.

摘要

DNA切除修复是细胞用于去除DNA损伤的过程，如由紫外线和许多化学物质引起的损伤。人类切除修复功能障碍可导致遗传性疾病，患者对诱变剂敏感，患皮肤癌的风险增加。这类研究得最透彻的综合征是着色性干皮病。最近的研究已经揭示了编码DNA切除修复几种不同组分的基因。针对这些基因编码的蛋白质产物的研究已经展开，目的是阐明DNA切除修复途径详细的生化机制。