• 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

Unraveling RUNX2 mutation in a cleidocranial dysplasia patient: Molecular insights into osteogenesis and proteostasis.

作者信息

Dalle Carbonare Luca, Minoia Arianna, Gandini Alberto, Piritore Francesca Cristiana, Patuzzo Cristina, Ceretti Lucrezia, Vareschi Anna, Aparo Antonino, Cominacini Mattia, Malerba Giovanni, Romanelli Maria Grazia, Pessoa Joao, Guardavaccaro Daniele, Antoniazzi Franco, Valenti Maria Teresa

机构信息

Department of Engineering for the Innovation Medicine, University of Verona, Verona 37100, Italy.

Department of Surgery, Dentistry, Pediatrics and Gynecology, University of Verona, Verona 37100, Italy.

出版信息

Genes Dis. 2024 Nov 6;12(4):101449. doi: 10.1016/j.gendis.2024.101449. eCollection 2025 Jul.

DOI:10.1016/j.gendis.2024.101449
PMID:40177069
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11960636/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/a1a615ba475e/figs7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/04030ba75a57/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/f10d9d85bbe9/figs1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/881662a7e4d8/figs2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/6f7cd546b63e/figs3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/1d8891ab15a3/figs4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/810e697de670/figs5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/5a913e7ab685/figs6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/a1a615ba475e/figs7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/04030ba75a57/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/f10d9d85bbe9/figs1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/881662a7e4d8/figs2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/6f7cd546b63e/figs3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/1d8891ab15a3/figs4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/810e697de670/figs5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/5a913e7ab685/figs6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c559/11960636/a1a615ba475e/figs7.jpg

相似文献

1
Unraveling RUNX2 mutation in a cleidocranial dysplasia patient: Molecular insights into osteogenesis and proteostasis.解析锁骨颅骨发育不全患者的RUNX2突变：对骨生成和蛋白质稳态的分子见解
Genes Dis. 2024 Nov 6;12(4):101449. doi: 10.1016/j.gendis.2024.101449. eCollection 2025 Jul.
2
Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia.一名锁骨颅骨发育不全患者中RUNX2基因的新突变。
Int J Clin Exp Pathol. 2015 Jan 1;8(1):1057-62. eCollection 2015.
3
microRNA-31 inhibition partially ameliorates the deficiency of bone marrow stromal cells from cleidocranial dysplasia.miRNA-31 抑制部分改善了颅锁骨发育不全症骨髓基质细胞的缺陷。
J Cell Biochem. 2019 Jun;120(6):9472-9486. doi: 10.1002/jcb.28223. Epub 2018 Dec 3.
4
Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression.两个 cleidocranial dysplasia (CCD) 患者的两个新型 RUNX2 C 末端突变，影响 p53 表达。
Int J Mol Sci. 2021 Sep 25;22(19):10336. doi: 10.3390/ijms221910336.
5
RUNX2 mutation reduces osteogenic differentiation of dental follicle cells in cleidocranial dysplasia.RUNX2突变降低锁骨颅骨发育不全中牙囊细胞的成骨分化。
Mutagenesis. 2018 Sep 17;33(3):203-214. doi: 10.1093/mutage/gey010.
6
Abnormal bone remodelling activity of dental follicle cells from a cleidocranial dysplasia patient.异常的骨改建活性来自于 cleidocranial dysplasia 患者的牙囊细胞。
Oral Dis. 2018 Oct;24(7):1270-1281. doi: 10.1111/odi.12900. Epub 2018 Jun 8.
7
A RUNX2/PEBP2alphaA/CBFA1 mutation in cleidocranial dysplasia revealing the link between the gene and Smad.锁骨颅骨发育不全症中的RUNX2/PEBP2alphaA/CBFA1突变揭示了该基因与Smad之间的联系。
J Bone Miner Metab. 2001;19(3):188-94. doi: 10.1007/s007740170041.
8
Impact of Mechanical Strain and Nicotinamide on RUNX2-Deficient Osteoblast Mimicking Cleidocranial Dysplasia.机械应变和烟酰胺对模拟 cleidocranial dysplasia 的 RUNX2 缺陷成骨细胞的影响。
Int J Mol Sci. 2023 Nov 21;24(23):16581. doi: 10.3390/ijms242316581.
9
A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia.一种在锁骨颅骨发育异常中表现出转录激活受损和Smad相互作用受损的RUNX2/PEBP2αA/CBFA1突变。
Proc Natl Acad Sci U S A. 2000 Sep 12;97(19):10549-54. doi: 10.1073/pnas.180309597.
10
A novel splice site mutation in Chinese associated with cleidocranial dysplasia.在中国发现的一种与锁骨颅骨发育不全相关的新型剪接位点突变。
Heliyon. 2024 Nov 8;10(22):e40277. doi: 10.1016/j.heliyon.2024.e40277. eCollection 2024 Nov 30.

本文引用的文献

1
Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression.两个 cleidocranial dysplasia (CCD) 患者的两个新型 RUNX2 C 末端突变，影响 p53 表达。
Int J Mol Sci. 2021 Sep 25;22(19):10336. doi: 10.3390/ijms221910336.
2
Regulation of Runx2 by post-translational modifications in osteoblast differentiation.Runx2 的翻译为 runt 相关转录因子 2，简称 Runx2。 在成骨细胞分化中，Runx2 通过翻译后修饰进行调控。
Life Sci. 2020 Mar 15;245:117389. doi: 10.1016/j.lfs.2020.117389. Epub 2020 Jan 30.
3
Proteasomal and Autophagic Degradation Systems.
蛋白酶体和自噬降解系统。
Annu Rev Biochem. 2017 Jun 20;86:193-224. doi: 10.1146/annurev-biochem-061516-044908. Epub 2017 May 1.
4
Regulation of Runx2 by microRNA-9 and microRNA-10 modulates the osteogenic differentiation of mesenchymal stem cells.微小RNA-9和微小RNA-10对Runx2的调控调节间充质干细胞的成骨分化。
Int J Mol Med. 2017 Apr;39(4):1046-1052. doi: 10.3892/ijmm.2017.2918. Epub 2017 Mar 10.
5
Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates.自噬抑制会损害泛素-蛋白酶体途径底物的降解。
Mol Cell. 2009 Feb 27;33(4):517-27. doi: 10.1016/j.molcel.2009.01.021.