• 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
Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.IGFBP7 基因突变导致 BRAF/MEK/ERK 通路上调和家族性视网膜动脉大动脉瘤。
Am J Hum Genet. 2011 Aug 12;89(2):313-9. doi: 10.1016/j.ajhg.2011.07.010.
2
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.伴有瓣上型主肺动脉狭窄综合征的视网膜动脉大动脉瘤的表型描述。
Clin Genet. 2020 Mar;97(3):447-456. doi: 10.1111/cge.13676. Epub 2019 Dec 2.
3
BRAF V600E mutation and the tumour suppressor IGFBP7 in atypical genital naevi.BRAF V600E 突变与肿瘤抑制因子 IGFBP7 在非典型生殖器痣中的作用。
Br J Dermatol. 2010 Mar;162(3):677-80. doi: 10.1111/j.1365-2133.2009.09558.x. Epub 2009 Nov 16.
4
Relationships among mutation status, expression of RAS pathway signaling molecules, and clinicopathological features and prognosis of patients with colorectal cancer.结直肠癌患者突变状态、RAS 通路信号分子表达与临床病理特征和预后的关系。
World J Gastroenterol. 2019 Feb 21;25(7):808-823. doi: 10.3748/wjg.v25.i7.808.
5
Regulation of BRAF protein stability by a negative feedback loop involving the MEK-ERK pathway but not the FBXW7 tumour suppressor.由涉及MEK-ERK途径而非FBXW7肿瘤抑制因子的负反馈回路对BRAF蛋白稳定性进行调控。
Cell Signal. 2016 Jun;28(6):561-71. doi: 10.1016/j.cellsig.2016.02.009. Epub 2016 Feb 17.
6
The RAF inhibitor PLX4032 inhibits ERK signaling and tumor cell proliferation in a V600E BRAF-selective manner.RAF 抑制剂 PLX4032 以 V600E BRAF 选择性方式抑制 ERK 信号和肿瘤细胞增殖。
Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14903-8. doi: 10.1073/pnas.1008990107. Epub 2010 Jul 28.
7
Distinct dependencies on receptor tyrosine kinases in the regulation of MAPK signaling between BRAF V600E and non-V600E mutant lung cancers.BRAF V600E 和非 V600E 突变型肺癌中 MAPK 信号转导的受体酪氨酸激酶调控的独特依赖性。
Oncogene. 2018 Mar;37(13):1775-1787. doi: 10.1038/s41388-017-0035-9. Epub 2018 Jan 19.
8
The BRAF(V600E) inhibitor, PLX4032, increases type I collagen synthesis in melanoma cells.BRAF（V600E）抑制剂PLX4032可增加黑色素瘤细胞中I型胶原蛋白的合成。
Matrix Biol. 2015 Oct;48:66-77. doi: 10.1016/j.matbio.2015.05.007. Epub 2015 May 16.
9
Oncogenic BRAF induces senescence and apoptosis through pathways mediated by the secreted protein IGFBP7.致癌性BRAF通过由分泌蛋白IGFBP7介导的途径诱导衰老和凋亡。
Cell. 2008 Feb 8;132(3):363-74. doi: 10.1016/j.cell.2007.12.032.
10
mTORC1 upregulation via ERK-dependent gene expression change confers intrinsic resistance to MEK inhibitors in oncogenic KRas-mutant cancer cells.通过依赖ERK的基因表达变化上调mTORC1赋予致癌性KRas突变癌细胞对MEK抑制剂的内在抗性。
Oncogene. 2015 Nov 5;34(45):5607-16. doi: 10.1038/onc.2015.16. Epub 2015 Feb 23.

引用本文的文献

1
Insulin-like growth factor-binding protein 7 (IGFBP7): A microenvironment-dependent regulator of angiogenesis and vascular remodeling.胰岛素样生长因子结合蛋白7（IGFBP7）：一种依赖微环境的血管生成和血管重塑调节因子。
Front Cell Dev Biol. 2024 Jul 9;12:1421438. doi: 10.3389/fcell.2024.1421438. eCollection 2024.
2
Low-affinity insulin-like growth factor binding protein 7 and its association with pulmonary arterial hypertension severity and survival.低亲和力胰岛素样生长因子结合蛋白7及其与肺动脉高压严重程度和生存率的关系。
Pulm Circ. 2023 Sep 4;13(3):e12284. doi: 10.1002/pul2.12284. eCollection 2023 Jul.
3
Angiogenesis modulated by CD93 and its natural ligands IGFBP7 and MMRN2: a new target to facilitate solid tumor therapy by vasculature normalization.由CD93及其天然配体IGFBP7和MMRN2调节的血管生成：通过血管正常化促进实体瘤治疗的新靶点。
Cancer Cell Int. 2023 Sep 2;23(1):189. doi: 10.1186/s12935-023-03044-z.
4
Increased A-to-I RNA editing in atherosclerosis and cardiomyopathies.动脉粥样硬化和心肌病中的 A-to-I RNA 编辑增加。
PLoS Comput Biol. 2023 Apr 10;19(4):e1010923. doi: 10.1371/journal.pcbi.1010923. eCollection 2023 Apr.
5
Left anterior descending artery aneurysm in a young patient with familial retinal arterial macroaneurysm: A case report.一名患有家族性视网膜动脉大动脉瘤的年轻患者的左前降支动脉瘤：病例报告。
Am J Ophthalmol Case Rep. 2022 Apr 29;26:101548. doi: 10.1016/j.ajoc.2022.101548. eCollection 2022 Jun.
6
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease.视网膜动脉大动脉瘤合并肺动脉瓣上狭窄综合征可能与冠状动脉及主要体循环动脉疾病相关。
Am J Ophthalmol Case Rep. 2022 Apr 12;26:101514. doi: 10.1016/j.ajoc.2022.101514. eCollection 2022 Jun.
7
Giant coronary artery aneurysm associated with familial retinal artery macroaneurysm: a case report.巨大冠状动脉瘤合并家族性视网膜动脉大动脉瘤：一例报告
Eur Heart J Case Rep. 2022 Feb 9;6(2):ytac057. doi: 10.1093/ehjcr/ytac057. eCollection 2022 Feb.
8
Zebrafish models of alx-linked frontonasal dysplasia reveal a role for Alx1 and Alx3 in the anterior segment and vasculature of the developing eye.Alx 连锁性前脑鼻发育不全的斑马鱼模型揭示了 Alx1 和 Alx3 在发育中眼睛的前段和脉管系统中的作用。
Biol Open. 2022 May 15;11(5). doi: 10.1242/bio.059189. Epub 2022 Jun 7.
9
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.在高度近亲结婚的人群中，胎儿结构畸形的产前外显子组测序和染色体微阵列分析揭示了纤毛病基因导致多系统表型的倾向。
Hum Genet. 2022 Jan;141(1):101-126. doi: 10.1007/s00439-021-02406-9. Epub 2021 Dec 1.
10
Familial Retinal Arterial Macroaneurysms with Peripheral Retinal Ischemia: A Characterization on Ultra-Widefield Fluorescein Angiography.家族性视网膜动脉大动脉瘤伴周边视网膜缺血：超广角荧光素血管造影特征。
Middle East Afr J Ophthalmol. 2021 Jan 19;27(4):228-230. doi: 10.4103/meajo.MEAJO_256_20. eCollection 2020 Oct-Dec.

本文引用的文献

1
Noonan syndrome: clinical aspects and molecular pathogenesis.努南综合征：临床特征与分子发病机制
Mol Syndromol. 2010 Feb;1(1):2-26. doi: 10.1159/000276766. Epub 2010 Jan 15.
2
Role for IGFBP7 in senescence induction by BRAF.IGFBP7在BRAF诱导衰老中的作用。
Cell. 2010 May 28;141(5):746-7. doi: 10.1016/j.cell.2010.05.014.
3
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.连锁人群中 Bardet-Biedl 综合征的临床和分子特征：纯合子定位的威力。
J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26.
4
Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations.努南综合征与增强的pERK活性相关，抑制该活性可预防颅面畸形。
Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15436-41. doi: 10.1073/pnas.0903302106. Epub 2009 Aug 24.
5
Angiomodulin is a specific marker of vasculature and regulates vascular endothelial growth factor-A-dependent neoangiogenesis.血管调节蛋白是脉管系统的一种特异性标志物，可调节血管内皮生长因子A依赖性新生血管形成。
Circ Res. 2009 Jul 17;105(2):201-8. doi: 10.1161/CIRCRESAHA.109.196790. Epub 2009 Jun 18.
6
Unraveling insulin-like growth factor binding protein-3 actions in human disease.解析胰岛素样生长因子结合蛋白-3在人类疾病中的作用
Endocr Rev. 2009 Aug;30(5):417-37. doi: 10.1210/er.2008-0028. Epub 2009 May 28.
7
Insulin-like growth factor binding protein-7 (IGFBP7) blocks vascular endothelial cell growth factor (VEGF)-induced angiogenesis in human vascular endothelial cells.胰岛素样生长因子结合蛋白7（IGFBP7）可阻断血管内皮生长因子（VEGF）诱导的人血管内皮细胞血管生成。
Eur J Pharmacol. 2009 May 21;610(1-3):61-7. doi: 10.1016/j.ejphar.2009.01.045. Epub 2009 Feb 5.
8
IGFBP-4 is an inhibitor of canonical Wnt signalling required for cardiogenesis.胰岛素样生长因子结合蛋白4是心脏发生所需的经典Wnt信号通路的抑制剂。
Nature. 2008 Jul 17;454(7202):345-9. doi: 10.1038/nature07027. Epub 2008 Jun 4.
9
Oncogenic BRAF induces senescence and apoptosis through pathways mediated by the secreted protein IGFBP7.致癌性BRAF通过由分泌蛋白IGFBP7介导的途径诱导衰老和凋亡。
Cell. 2008 Feb 8;132(3):363-74. doi: 10.1016/j.cell.2007.12.032.
10
Hepatic IGFBP1 is a prosurvival factor that binds to BAK, protects the liver from apoptosis, and antagonizes the proapoptotic actions of p53 at mitochondria.肝脏胰岛素样生长因子结合蛋白1（Hepatic IGFBP1）是一种促生存因子，它与BAK结合，保护肝脏免受凋亡，并在线粒体水平拮抗p53的促凋亡作用。
Genes Dev. 2007 Dec 1;21(23):3095-109. doi: 10.1101/gad.1567107.

IGFBP7 基因突变导致 BRAF/MEK/ERK 通路上调和家族性视网膜动脉大动脉瘤。

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.

机构信息

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

出版信息

Am J Hum Genet. 2011 Aug 12;89(2):313-9. doi: 10.1016/j.ajhg.2011.07.010.

DOI:10.1016/j.ajhg.2011.07.010
PMID:21835307
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3155176/
Abstract

Insulin-like growth factor binding proteins (IGFBPs) play important physiological functions through the modulation of IGF signaling as well as IGF-independent mechanisms. Despite the established role of IGFs in development, a similar role for the seven known IGFBPs has not been established in humans. Here, we show that an autosomal-recessive syndrome that consists of progressive retinal arterial macroaneurysms and supravalvular pulmonic stenosis is caused by mutation of IGFBP7. Consistent with the recently established inhibitory role of IGFBP7 on BRAF signaling, the BRAF/MEK/ERK pathway is upregulated in these patients, which may explain why the cardiac phenotype overlaps with other disorders characterized by germline mutations in this pathway. The retinal phenotype appears to be mediated by a role in vascular endothelium, where IGFBP7 is highly expressed.

摘要

胰岛素样生长因子结合蛋白 (IGFBPs) 通过调节 IGF 信号以及 IGF 独立机制发挥重要的生理功能。尽管 IGF 在发育过程中具有重要作用，但在人类中，七种已知的 IGFBPs 是否具有类似作用尚未确定。在这里，我们发现一种由进行性视网膜动脉大动脉瘤和瓣上肺动脉狭窄组成的常染色体隐性综合征是由 IGFBP7 突变引起的。与最近确立的 IGFBP7 对 BRAF 信号的抑制作用一致，这些患者中的 BRAF/MEK/ERK 通路被上调，这可能解释了为什么心脏表型与其他由该通路中的种系突变引起的疾病重叠。视网膜表型似乎通过在血管内皮细胞中发挥作用来介导，IGFBP7 在血管内皮细胞中高度表达。