• 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

CHDgene: A Curated Database for Congenital Heart Disease Genes.

作者信息

Yang Andrian, Alankarage Dimuthu, Cuny Hartmut, Ip Eddie K K, Almog Moran, Lu Jessica, Das Debjani, Enriquez Annabelle, Szot Justin O, Humphreys David T, Blue Gillian M, Ho Joshua W K, Winlaw David S, Dunwoodie Sally L, Giannoulatou Eleni

机构信息

Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.).

UNSW Sydney, Kensington, Australia (E.K.K.I., J.L., A.E., D.T.H., S.L.D., E.G.).

出版信息

Circ Genom Precis Med. 2022 Jun;15(3):e003539. doi: 10.1161/CIRCGEN.121.003539. Epub 2022 May 6.

DOI:10.1161/CIRCGEN.121.003539
PMID:35522174
Abstract
摘要

相似文献

1
CHDgene: A Curated Database for Congenital Heart Disease Genes.CHDgene：先天性心脏病基因的精选数据库。
Circ Genom Precis Med. 2022 Jun;15(3):e003539. doi: 10.1161/CIRCGEN.121.003539. Epub 2022 May 6.
2
The Heritable Basis of Congenital Heart Disease: Past, Present, and Future.先天性心脏病的遗传基础：过去、现在与未来
Circ Cardiovasc Genet. 2016 Aug;9(4):315-7. doi: 10.1161/CIRCGENETICS.116.001559.
3
Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.利用全外显子组测序鉴定家族性先天性心脏病的致病突变。
Circ Cardiovasc Genet. 2016 Aug;9(4):320-9. doi: 10.1161/CIRCGENETICS.115.001324. Epub 2016 Jul 14.
4
The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease.外显子组测序在家族性非综合征型先天性心脏病中的前景与挑战
Int J Cardiol. 2017 Mar 1;230:155-163. doi: 10.1016/j.ijcard.2016.12.024. Epub 2016 Dec 13.
5
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.通过全外显子组测序结合先天性心脏病相关基因筛选鉴定出的TBX20基因的一种新型变异（p.D176N）与家族性房间隔缺损相关。
J Zhejiang Univ Sci B. 2014 Sep;15(9):830-7. doi: 10.1631/jzus.B1400062.
6
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.通过对单核苷酸多态性阵列和外显子组序列数据的综合分析，先天性心脏病中新生拷贝数变异的频率增加。
Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.
7
High-risk genes involved in common septal defects of congenital heart disease.先天性心脏病常见室间隔缺损所涉及的高危基因。
Gene. 2022 Oct 5;840:146745. doi: 10.1016/j.gene.2022.146745. Epub 2022 Jul 18.
8
Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature.住院新生儿和婴儿先天性心脏病的遗传评估：新发现和文献复习。
Genes (Basel). 2021 Aug 14;12(8):1244. doi: 10.3390/genes12081244.
9
Copy number variants and the genetic enigma of congenital heart disease.拷贝数变异与先天性心脏病的遗传谜团。
Circ Res. 2014 Oct 24;115(10):821-3. doi: 10.1161/CIRCRESAHA.114.305243.
10
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.患有 NONO 功能丧失变异的男性的先天性心脏缺陷和左心室心肌致密化不全
J Med Genet. 2017 Jan;54(1):47-53. doi: 10.1136/jmedgenet-2016-104039. Epub 2016 Aug 22.

引用本文的文献

1
Reduced TBX5 dosage undermines developmental control of atrial cardiomyocyte identity in a model of human atrial disease.在人类心房疾病模型中，TBX5剂量减少会破坏心房心肌细胞特性的发育控制。
bioRxiv. 2025 Aug 19:2025.08.16.669546. doi: 10.1101/2025.08.16.669546.
2
MEF2C controls segment-specific gene regulatory networks that direct heart tube morphogenesis.MEF2C控制指导心脏管形态发生的节段特异性基因调控网络。
Genes Dev. 2025 Aug 29. doi: 10.1101/gad.352889.125.
3
A systems genetics approach identifies roles for proteasome factors in heart development and congenital heart defects.
一种系统遗传学方法确定了蛋白酶体因子在心脏发育和先天性心脏病中的作用。
PLoS Genet. 2025 Aug 26;21(8):e1011579. doi: 10.1371/journal.pgen.1011579. eCollection 2025 Aug.
4
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease.SMAD5基因的单倍体不足变异与孤立性先天性心脏病相关。
HGG Adv. 2025 Jul 5;6(4):100478. doi: 10.1016/j.xhgg.2025.100478.
5
Genetic and Environmental Contributors To Congenital Heart Disease.先天性心脏病的遗传和环境因素
Curr Treat Options Cardiovasc Med. 2025;27(1):36. doi: 10.1007/s11936-025-01091-5. Epub 2025 May 26.
6
The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans.ERBB2基因c.1795C>T、p.Arg599Cys变异与人类左心室流出道梗阻缺陷相关。
HGG Adv. 2025 Jul 10;6(3):100446. doi: 10.1016/j.xhgg.2025.100446. Epub 2025 May 5.
7
Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease.先天性心脏病中与临床报告的拷贝数变异相关的长链非编码RNA候选疾病基因的鉴定
J Am Heart Assoc. 2025 Mar 18;14(6):e039177. doi: 10.1161/JAHA.124.039177. Epub 2025 Mar 13.
8
Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.利用人类胎儿心脏调控图谱对先天性心脏缺陷风险变异进行分子整合。
medRxiv. 2024 Nov 22:2024.11.20.24317557. doi: 10.1101/2024.11.20.24317557.
9
Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping.超越先天性心脏缺陷的基因组研究：通过系统建模和表型分析。
Dis Model Mech. 2024 Nov 1;17(11). doi: 10.1242/dmm.050913. Epub 2024 Nov 22.
10
A validated heart-specific model for splice-disrupting variants in childhood heart disease.用于儿童心脏病中剪接破坏变异的经验证的心脏特异性模型。
Genome Med. 2024 Oct 15;16(1):119. doi: 10.1186/s13073-024-01383-8.