• 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

Utility and limitations of animal models for the functional validation of human sequence variants.

作者信息

Cox Timothy C

机构信息

Department of Pediatrics (Division of Craniofacial Medicine), University of Washington Seattle, Washington ; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute Seattle, Washington ; Department of Anatomy & Developmental Biology, Monash University Clayton, Victoria, Australia.

出版信息

Mol Genet Genomic Med. 2015 Sep;3(5):375-82. doi: 10.1002/mgg3.167. Epub 2015 Aug 3.

DOI:10.1002/mgg3.167
PMID:26436102
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4585444/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d7e/4585444/a0bf510f5ec2/mgg30003-0375-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d7e/4585444/a0bf510f5ec2/mgg30003-0375-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d7e/4585444/a0bf510f5ec2/mgg30003-0375-f1.jpg

相似文献

1
Utility and limitations of animal models for the functional validation of human sequence variants.用于人类序列变异功能验证的动物模型的效用与局限性
Mol Genet Genomic Med. 2015 Sep;3(5):375-82. doi: 10.1002/mgg3.167. Epub 2015 Aug 3.
2
Animal models of human disease: challenges in enabling translation.人类疾病的动物模型:转化面临的挑战。
Biochem Pharmacol. 2014 Jan 1;87(1):162-71. doi: 10.1016/j.bcp.2013.08.006. Epub 2013 Aug 14.
3
Alternative splicing and exon duplication generates 10 unique porcine 5-HT 4 receptor splice variants including a functional homofusion variant.可变剪接和外显子重复产生了10种独特的猪5-羟色胺4受体剪接变体,包括一种功能性同型融合变体。
Physiol Genomics. 2008 Jun 12;34(1):22-33. doi: 10.1152/physiolgenomics.00038.2008. Epub 2008 Apr 22.
4
Characterization of 7- and 19-month-old Tg2576 mice using multimodal in vivo imaging: limitations as a translatable model of Alzheimer's disease.使用多模态体内成像技术对 7 月龄和 19 月龄 Tg2576 小鼠进行特征分析:作为阿尔茨海默病转化模型的局限性。
Neurobiol Aging. 2012 May;33(5):933-44. doi: 10.1016/j.neurobiolaging.2010.08.005. Epub 2010 Oct 18.
5
Recent advances in the manipulation of murine gene expression and its utility for the study of human neurological disease.小鼠基因表达调控的最新进展及其在人类神经疾病研究中的应用。
Biochim Biophys Acta. 2010 Oct;1802(10):796-807. doi: 10.1016/j.bbadis.2009.11.005. Epub 2009 Dec 11.
6
Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.表达人葡萄糖脑苷脂酶变异体的转基因小鼠:用于研究戈谢病的工具。
Blood Cells Mol Dis. 2013 Aug;51(2):109-15. doi: 10.1016/j.bcmd.2013.03.006. Epub 2013 Apr 30.
7
Animal models for the study of squamous cell carcinoma of the upper aerodigestive tract: a historical perspective with review of their utility and limitations. Part A. Chemically-induced de novo cancer, syngeneic animal models of HNSCC, animal models of transplanted xenogeneic human tumors.上消化道鳞状细胞癌研究的动物模型:历史视角及其效用与局限性综述。A部分。化学诱导的原发性癌、头颈部鳞状细胞癌的同基因动物模型、移植性异种人类肿瘤动物模型。
Int J Cancer. 2006 May 1;118(9):2111-22. doi: 10.1002/ijc.21694.
8
Functional validation of new pathways in lipoprotein metabolism identified by human genetics.通过人类遗传学鉴定脂蛋白代谢新途径的功能验证。
Curr Opin Lipidol. 2011 Apr;22(2):123-8. doi: 10.1097/MOL.0b013e32834469b3.
9
Validation of genetic sequence variants as prognostic factors in early-stage head and neck squamous cell cancer survival.验证遗传序列变异作为早期头颈部鳞状细胞癌生存的预后因素。
Clin Cancer Res. 2012 Jan 1;18(1):196-206. doi: 10.1158/1078-0432.CCR-11-1759. Epub 2011 Nov 10.
10
In vivo target validation using gene invalidation, RNA interference and protein functional knockout models: it is the time to combine.使用基因敲除、RNA干扰和蛋白质功能敲除模型进行体内靶点验证:是时候进行整合了。
Curr Opin Pharmacol. 2009 Oct;9(5):669-76. doi: 10.1016/j.coph.2009.06.017. Epub 2009 Jul 29.

引用本文的文献

1
Investigating the therapeutic potential of hesperidin targeting CRISP2 in intervertebral disc degeneration and cancer risk mitigation.研究橙皮苷靶向CRISP2在椎间盘退变和降低癌症风险方面的治疗潜力。
Front Pharmacol. 2024 Aug 29;15:1447152. doi: 10.3389/fphar.2024.1447152. eCollection 2024.
2
Model organisms for functional validation in genetic renal disease.用于遗传性肾脏疾病功能验证的模式生物。
Med Genet. 2022 Nov 29;34(4):287-296. doi: 10.1515/medgen-2022-2162. eCollection 2022 Dec.
3
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

本文引用的文献

1
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.14个单基因导致15%的肾结石/肾钙质沉着症。
J Am Soc Nephrol. 2015 Mar;26(3):543-51. doi: 10.1681/ASN.2014040388. Epub 2014 Oct 8.
2
Update on the genetics of bardet-biedl syndrome.巴德-比德尔综合征遗传学研究进展
Mol Syndromol. 2014 Feb;5(2):51-6. doi: 10.1159/000357054. Epub 2013 Dec 20.
3
Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate.扩展腭裂表型:澳大利亚非综合征性唇腭裂患儿未患病父母的牙齿特征
利用 vangl2 敲除斑马鱼的拯救实验对种系 VANGL2 变异进行功能分析。
Hum Mol Genet. 2024 Jan 7;33(2):150-169. doi: 10.1093/hmg/ddad171.
4
Targeting the ADPKD methylome using nanoparticle-mediated combination therapy.使用纳米颗粒介导的联合疗法靶向常染色体显性多囊肾病甲基化组。
APL Bioeng. 2023 Jun 9;7(2):026111. doi: 10.1063/5.0151408. eCollection 2023 Jun.
5
Human Tissue-Engineered Skeletal Muscle: A Tool for Metabolic Research.人源组织工程化骨骼肌:代谢研究的工具。
Endocrinol Metab (Seoul). 2022 Jun;37(3):408-414. doi: 10.3803/EnM.2022.302. Epub 2022 Jun 29.
6
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.单基因低骨量和高骨量疾病中的基因发现和新型治疗方法的路线图。
Front Endocrinol (Lausanne). 2021 Aug 13;12:709711. doi: 10.3389/fendo.2021.709711. eCollection 2021.
7
On Zebrafish Disease Models and Matters of the Heart.关于斑马鱼疾病模型与心脏问题
Biomedicines. 2019 Feb 28;7(1):15. doi: 10.3390/biomedicines7010015.
8
Functional testing of a human variant in zebrafish reveals a potential modifier role in congenital heart defects.在斑马鱼中对人类变体进行功能测试,揭示了其在先天性心脏缺陷中具有潜在的修饰作用。
Dis Model Mech. 2018 Oct 18;11(10):dmm035972. doi: 10.1242/dmm.035972.
Int J Paediatr Dent. 2014 Jul;24(4):286-92. doi: 10.1111/ipd.12072. Epub 2013 Nov 17.
4
Perspectives and challenges in advancing research into craniofacial anomalies.颅面畸形研究进展的观点和挑战。
Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):213-7. doi: 10.1002/ajmg.c.31383. Epub 2013 Oct 18.
5
A new tool for quantifying and characterizing asymmetry in bilaterally paired structures.一种用于量化和表征双侧配对结构不对称性的新工具。
Annu Int Conf IEEE Eng Med Biol Soc. 2013;2013:2364-7. doi: 10.1109/EMBC.2013.6610013.
6
Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions.表型变异的标准术语:形态学项目的要素、当前进展及未来方向。
Hum Mutat. 2012 May;33(5):781-6. doi: 10.1002/humu.22053. Epub 2012 Apr 13.
7
Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.新生儿Pfeiffer综合征和Apert综合征的Fgfr1(P250R / +)和Fgfr2(S252W / +)小鼠模型的面部缝合骨融合
Birth Defects Res A Clin Mol Teratol. 2011 Jul;91(7):603-9. doi: 10.1002/bdra.20811. Epub 2011 Apr 28.
8
Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia.单纯性唇裂与唇腭裂的胎儿遗传风险:一项基于斯堪的纳维亚两项口面部裂隙人群研究的亚表型分析
Birth Defects Res A Clin Mol Teratol. 2011 Feb;91(2):85-92. doi: 10.1002/bdra.20747. Epub 2010 Dec 7.
9
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.外显子组测序鉴定出 MLL2 突变是歌舞伎综合征的一个病因。
Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.
10
Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate.下唇的螺旋纹与非综合征型唇裂伴或不伴腭裂有关。
Am J Med Genet A. 2009 Dec;149A(12):2673-9. doi: 10.1002/ajmg.a.33089.