• 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

Association Between Mutations in the NKX2.5 Homeobox, Atrial Septal Defects, Ventricular Noncompaction and Sudden Cardiac Death.

作者信息

Palomino Doza Julián, Salguero-Bodes Rafael, de la Parte María, Arribas-Ynsaurriaga Fernando

机构信息

Unidad de Cardiopatías Familiares, Hospital Universitario 12 de Octubre, Madrid, Spain.

Unidad de Cardiopatías Familiares, Hospital Universitario 12 de Octubre, Madrid, Spain.

出版信息

Rev Esp Cardiol (Engl Ed). 2018 Jan;71(1):53-55. doi: 10.1016/j.rec.2017.02.032. Epub 2017 Mar 17.

DOI:10.1016/j.rec.2017.02.032
PMID:28330612
Abstract
摘要

相似文献

1
Association Between Mutations in the NKX2.5 Homeobox, Atrial Septal Defects, Ventricular Noncompaction and Sudden Cardiac Death.NKX2.5 同源盒基因突变与房间隔缺损、心室致密化不全及心源性猝死之间的关联
Rev Esp Cardiol (Engl Ed). 2018 Jan;71(1):53-55. doi: 10.1016/j.rec.2017.02.032. Epub 2017 Mar 17.
2
Familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation.家族性埃布斯坦畸形、左心室心肌致密化不全及室间隔缺损与MYH7基因突变相关。
J Thorac Cardiovasc Surg. 2014 Nov;148(5):e223-6. doi: 10.1016/j.jtcvs.2014.08.049. Epub 2014 Sep 6.
3
Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.家族性房间隔缺损与心源性猝死:一种新型NKX2-5突变的鉴定及文献综述
Congenit Heart Dis. 2016 May;11(3):283-90. doi: 10.1111/chd.12317. Epub 2015 Dec 18.
4
Congenital heart diseases and their association with the variant distribution features on susceptibility genes.先天性心脏病及其与易感基因变异分布特征的关联。
Clin Genet. 2017 Mar;91(3):349-354. doi: 10.1111/cge.12835. Epub 2016 Sep 5.
5
Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia.一个有猝死和室性心律失常家族中的新型高致死性NKX2.5错义突变
Pediatr Cardiol. 2014 Oct;35(7):1206-12. doi: 10.1007/s00246-014-0917-3. Epub 2014 Jun 1.
6
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.心脏转录因子NKX2.5中的突变会影响多种心脏发育途径。
J Clin Invest. 1999 Dec;104(11):1567-73. doi: 10.1172/JCI8154.
7
A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.HAND2功能丧失性突变导致家族性室间隔缺损和肺动脉狭窄。
G3 (Bethesda). 2016 Apr 7;6(4):987-92. doi: 10.1534/g3.115.026518.
8
Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.NKX2.5中一种常见氨基酸的突变在两个大家族中导致扩张型心肌病。
BMC Med Genet. 2016 Nov 17;17(1):83. doi: 10.1186/s12881-016-0347-6.
9
Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit.导致Nkx2.5发生突变的先天性心脏缺陷在体内表现出功能缺陷。
J Mol Cell Cardiol. 2017 Apr;105:89-98. doi: 10.1016/j.yjmcc.2017.03.003. Epub 2017 Mar 14.
10
Investigation of somatic NKX2-5 mutations in congenital heart disease.先天性心脏病中体细胞NKX2 - 5突变的研究。
J Med Genet. 2009 Feb;46(2):115-22. doi: 10.1136/jmg.2008.060277.

引用本文的文献

1
A Novel Missense Heterozygous Mutation in Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review.一个先天性间隔缺损和心肌病家族中某基因的新型错义杂合突变:病例系列及文献综述
J Pediatr Genet. 2024 Jul 10;13(4):308-314. doi: 10.1055/s-0044-1788252. eCollection 2024 Dec.
2
A Novel Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular Conduction Disorder, and Syncope.一名患有左心室心肌致密化不全、房间隔缺损、房室传导障碍和晕厥的儿童中的一种新型变异体。
J Clin Med. 2022 Jun 2;11(11):3171. doi: 10.3390/jcm11113171.
3
lncENST Suppress the Warburg Effect Regulating the Tumor Progress by the Nkx2-5/ErbB2 Axis in Hepatocellular Carcinoma.
lncENST 通过 Nkx2-5/ErbB2 轴抑制肝癌的瓦博格效应调控肿瘤进展。
Comput Math Methods Med. 2021 Dec 6;2021:6959557. doi: 10.1155/2021/6959557. eCollection 2021.
4
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.左心室心肌致密化不全和肥厚型心肌病重叠表型,新型截短 DSC2 突变导致复杂心律失常和心力衰竭。
Orphanet J Rare Dis. 2021 Nov 24;16(1):496. doi: 10.1186/s13023-021-02112-9.
5
Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death.病例报告:先天性心脏病、左心室心肌致密化不全、传导疾病及心源性猝死家族中的一种新型NKX2-5突变
Front Cardiovasc Med. 2021 Jul 1;8:691203. doi: 10.3389/fcvm.2021.691203. eCollection 2021.
6
Defects in Trabecular Development Contribute to Left Ventricular Noncompaction.小梁发育缺陷导致左心室心肌致密化不全。
Pediatr Cardiol. 2019 Oct;40(7):1331-1338. doi: 10.1007/s00246-019-02161-9. Epub 2019 Jul 24.