• 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

疾病风险 DNA 变异的鉴定正在塑造精准健康的未来。

Identification of Disease Risk DNA Variations is Shaping the Future of Precision Health.

机构信息

Center for Craniofacial Research, Department of Diagnostic and Biomedical Sciences, School of Dentistry, University of Texas Health Science Center at Houston, Houston, TX 77054, USA.

Pediatric Research Center, McGovern Medical School, University of Texas Health Science Center, Houston, TX 77030, USA.

出版信息

Genes (Basel). 2019 Jun 13;10(6):450. doi: 10.3390/genes10060450.

DOI:10.3390/genes10060450
PMID:31200548
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6627794/
Abstract

In recent years, the knowledge generated by decoding the human genome has allowed groundbreaking genetic research to better understand genomic architecture and heritability in healthy and disease states. The vast amount of data generated over time and yet to be generated provides the basis for translational research towards the development of preventive and therapeutic strategies for many conditions. In this special issue, we highlight the discoveries of disease-associated and protective DNA variations in common human diseases and developmental disorders.

摘要

近年来,人类基因组解码所产生的知识使得开创性的遗传研究能够更好地理解健康和疾病状态下的基因组结构和遗传性。随着时间的推移产生的大量数据和尚未产生的数据为开发许多疾病的预防和治疗策略的转化研究提供了基础。在本期特刊中,我们重点介绍了常见人类疾病和发育障碍中与疾病相关和保护性的 DNA 变异的发现。

相似文献

1
Identification of Disease Risk DNA Variations is Shaping the Future of Precision Health.疾病风险 DNA 变异的鉴定正在塑造精准健康的未来。
Genes (Basel). 2019 Jun 13;10(6):450. doi: 10.3390/genes10060450.
2
Exploring noncoding variants in genetic diseases: from detection to functional insights.探索遗传疾病中的非编码变异:从检测到功能见解。
J Genet Genomics. 2024 Feb;51(2):111-132. doi: 10.1016/j.jgg.2024.01.001. Epub 2024 Jan 4.
3
Clinical genomics: from a truly personal genome viewpoint.临床基因组学:从真正的个人基因组视角来看。
Hum Genet. 2016 Jun;135(6):591-601. doi: 10.1007/s00439-016-1682-6. Epub 2016 May 25.
4
A Strategy for Genomic Research on Common Cardiovascular Diseases Aiming at the Realization of Precision Medicine: Personal Insights and Perspectives.一种旨在实现精准医学的常见心血管疾病基因组研究策略:个人见解与观点
Circ Res. 2016 Sep 30;119(8):900-3. doi: 10.1161/CIRCRESAHA.116.309802.
5
Genetic Variations and Precision Medicine.基因变异与精准医学
Perspect Health Inf Manag. 2019 Apr 1;16(Spring):1a. eCollection 2019 Spring.
6
Three-dimensional genome: developmental technologies and applications in precision medicine.三维基因组:精准医学中的发育技术与应用。
J Hum Genet. 2020 Jun;65(6):497-511. doi: 10.1038/s10038-020-0737-7. Epub 2020 Mar 9.
7
Inferring the effect of genomic variation in the new era of genomics.在基因组学的新时代推断基因组变异的影响。
Hum Mutat. 2018 Jun;39(6):756-773. doi: 10.1002/humu.23427. Epub 2018 Apr 22.
8
The use of PanDrugs to prioritize anticancer drug treatments in a case of T-ALL based on individual genomic data.基于个体基因组数据,使用泛药物优先考虑 T-ALL 患者的抗癌药物治疗。
BMC Cancer. 2019 Oct 26;19(1):1005. doi: 10.1186/s12885-019-6209-9.
9
The Role of Noncoding Genetic Variation in Isolated Orofacial Clefts.非编码基因变异在孤立性口面部裂隙中的作用。
J Dent Res. 2017 Oct;96(11):1238-1247. doi: 10.1177/0022034517720403. Epub 2017 Jul 21.
10
Expanded ENCODE delivers invaluable genomic encyclopedia.扩展的ENCODE计划提供了宝贵的基因组百科全书。
Nature. 2020 Jul;583(7818):685-686. doi: 10.1038/d41586-020-02139-1.

引用本文的文献

1
Identification of potential therapeutic intervening targets by in-silico analysis of nsSNPs in preterm birth-related genes.通过对早产相关基因中 nsSNP 的计算机分析鉴定潜在的治疗干预靶点。
PLoS One. 2023 Mar 7;18(3):e0280305. doi: 10.1371/journal.pone.0280305. eCollection 2023.

本文引用的文献

1
Systematic review of hormonal and genetic factors involved in the nonsyndromic disorders of the lower jaw.关于下颌非综合征性疾病中激素和遗传因素的系统评价。
Dev Dyn. 2019 Feb;248(2):162-172. doi: 10.1002/dvdy.8. Epub 2019 Jan 9.
2
Modular Proteoglycan Perlecan/: Mutations, Phenotypes, and Functions.模块化蛋白聚糖基底膜聚糖:突变、表型与功能
Genes (Basel). 2018 Nov 16;9(11):556. doi: 10.3390/genes9110556.
3
Can Genetic Factors Compromise the Success of Dental Implants? A Systematic Review and Meta-Analysis.遗传因素会影响牙种植体的成功率吗?一项系统评价与荟萃分析
Genes (Basel). 2018 Sep 6;9(9):444. doi: 10.3390/genes9090444.
4
Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci.等位基因特异性表观基因组图谱揭示了调控位点序列依赖性随机开关。
Science. 2018 Sep 28;361(6409). doi: 10.1126/science.aar3146. Epub 2018 Aug 23.
5
and Analysis in FAP Patients: A Novel Mutation in Gene and Genotype-Phenotype Correlation.FAP患者的分析:基因中的一种新突变及基因型-表型相关性
Genes (Basel). 2018 Jun 27;9(7):322. doi: 10.3390/genes9070322.
6
Genetic Association with Subgingival Bacterial Colonization in Chronic Periodontitis.慢性牙周炎中牙龈下细菌定植的基因关联
Genes (Basel). 2018 May 23;9(6):271. doi: 10.3390/genes9060271.
7
The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.人类牙齿发育不全遗传病因学的变化态势
Genes (Basel). 2018 May 16;9(5):255. doi: 10.3390/genes9050255.
8
Genetic Mechanisms of Asthma and the Implications for Drug Repositioning.哮喘的遗传机制及其对药物重新定位的启示
Genes (Basel). 2018 May 3;9(5):237. doi: 10.3390/genes9050237.
9
and Genetic Variants Influence Survival in Multiple Myeloma Patients.基因变异影响多发性骨髓瘤患者的生存。
Genes (Basel). 2018 Apr 24;9(5):226. doi: 10.3390/genes9050226.
10
Transgenic Xenopus laevis Line for In Vivo Labeling of Nephrons within the Kidney.用于体内标记肾脏中肾单位的转基因非洲爪蟾品系。
Genes (Basel). 2018 Apr 6;9(4):197. doi: 10.3390/genes9040197.