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Ying-Jia Xu
Fudan University
Dominance (genetics)Mutation CarrierMutationGeneticsNonsense mutation
10Publications
3H-index
31Citations
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Publications 13
Newest
#1Ruo-Min Di (Fudan University)H-Index: 2
#2Chen-Xi Yang (Fudan University)H-Index: 1
Last. Yi-Qing YangH-Index: 26
view all 9 authors...
Abstract As a prevalent primary myocardial disease, dilated cardiomyopathy (DCM) represents the most common cause of heart failure in the young and the most frequent indication for cardiac transplantation. Aggregating evidence highlights the genetic basis of DCM. However, due to substantial genetic heterogeneity, the genetic defects of DCM in most cases remain elusive. In the current investigation, the entire coding exons and splicing junctions of the KLF5 gene, which encodes a key transcription...
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#1Xiao-Ting Tian (Fudan University)H-Index: 1
#2Ying-Jia Xu (Fudan University)H-Index: 3
Last. Yi-Qing Yang (Fudan University)H-Index: 5
view all 3 authors...
There are significant differences in clinical presentation and treatment of atrial fibrillation (AF) between women and men. The primary goal of AF management is to restore sinus rhythm and to prevent various complications, including stroke and heart failure. In many areas of AF, such as prevalence, clinical manifestations, morbidity, risk factors, pathophysiology, treatment strategies, and complications, gender-specific variability is observed and needs to be further addressed by large-scale pop...
1 CitationsSource
#1Zhi Wang (Tongji University)
#2Hao-Ming Song (Tongji University)
Last. Yi-Qing Yang (Fudan University)H-Index: 5
view all 11 authors...
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#1Hua Liu (SJTU: Shanghai Jiao Tong University)H-Index: 9
#2Ying-Jia Xu (Fudan University)H-Index: 3
Last. Yi-Qing Yang (Fudan University)H-Index: 5
view all 11 authors...
Abstract As two members of the basic helix-loop-helix family of transcription factors, HAND1 and HAND2 are both required for the embryonic cardiogenesis and postnatal ventricular structural remodeling. Recently a HAND1 mutation has been reported to cause dilated cardiomyopathy (DCM). However, the association of a HAND2 mutation with DCM is still to be ascertained. In this research, the coding regions and splicing junction sites of the HAND2 gene were sequenced in 206 unrelated patients affected ...
3 CitationsSource
#1Ying-Jia Xu (Fudan University)H-Index: 3
#2Zhang-Sheng Wang (Fudan University)H-Index: 2
Last. Yi-Qing Yang (Fudan University)H-Index: 5
view all 9 authors...
Dilated cardiomyopathy (DCM) is the most prevalent cause of non-ischemic cardiac failure and the commonest indication for cardiac transplantation. Compelling evidence highlights the pivotal roles of genetic defects in the occurrence of DCM. Nevertheless, the genetic determinants underpinning DCM remain largely obscure. In this study, the coding regions of ISL1, which encodes a transcription factor critical for embryonic cardiogenesis and postnatal cardiac remodeling, were sequenced in 216 unrela...
2 CitationsSource
#1Lan Ma (SJTU: Shanghai Jiao Tong University)
#2Wang Jian-Guo (Tongji University)H-Index: 20
Last. Yi-Qing Yang (Fudan University)H-Index: 5
view all 12 authors...
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#1Ying-Jia Xu (Fudan University)H-Index: 3
#2Ruo-Min Di (Fudan University)H-Index: 2
Last. Yi-Qing Yang (Fudan University)H-Index: 5
view all 9 authors...
Abstract Congenital bicuspid aortic valve (BAV), the most common form of birth defect in humans, is associated with substantial morbidity and mortality. Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV. However, BAV is a genetically heterogeneous disease and the genetic determinants underpinning BAV in an overwhelming majority of patients remain unknown. In the present study, the coding exons and flanking introns of the GATA6 gene, which encod...
3 CitationsSource
#1Yu-Min Sun (Fudan University)H-Index: 7
#2Jun Wang (Fudan University)H-Index: 4
Last. Yi-Qing Yang (SJTU: Shanghai Jiao Tong University)H-Index: 26
view all 14 authors...
Dilated cardiomyopathy (DCM) is a common primary myocardial disease leading to congestive heart failure, arrhythmia and sudden cardiac death. Increasing studies demonstrate substantial genetic determinants for DCM. Nevertheless, DCM is of substantial genetic heterogeneity, and the genetic basis for DCM in most patients remains unclear. The present study was sought to investigate the association of a genetic variant in the ZBTB17 gene with DCM. A cohort of 158 unrelated patients with idiopathic D...
4 CitationsSource
#1Xiao-Hui Qiao (Tongji University)H-Index: 1
#2Qian Wang (Tongji University)H-Index: 2
Last. Yi-Qing Yang (SJTU: Shanghai Jiao Tong University)H-Index: 26
view all 13 authors...
Abstract Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial genetic heterogeneity. In this study, the coding exons and splicing boundaries of the NR2F2 gene, which encodes a pleiotropic transcription factor required for normal cardio...
2 CitationsSource
#1Ying-Jia Xu (Fudan University)H-Index: 3
Last. Ying YangH-Index: 42
view all 6 authors...
目的: 研究散发性扩张型心肌病(DCM)相关HAND1基因新突变。 方法: 自2013年2月至2017年2月在复旦大学附属第五人民医院和上海交通大学附属胸科医院采集120例散发性DCM患者和200名健康对照者的临床资料和外周静脉血标本,提取基因组DNA。通过聚合酶链反应扩增HAND1基因编码外显子并进行测序分析以发现HAND1基因新突变。分别应用在线软件MUSCLE和MutationTaster分析突变氨基酸在进化上的保守性和突变的致病性。克隆野生型HAND1基因,通过定位诱变获得其突变体,转染HeLa细胞,应用双荧光素酶报告基因分析试剂盒分析突变型HAND1的功能特点。 结果: 在1例散发性DCM患者发现1种新的杂合性HAND1基因突变c.346G>T,即p.E116X突变。该无义突变不存在于200名健康对照者,多物种HAND1蛋白序列比对显示第116位的谷氨酸在进化上高度保守,致病性预测表明所识别的HAND1基因突变具有致病性。生化分析证实突变型HAND1对靶基因的转录激活功能丧失。 结论: HAND1基因功能缺失性突变可能是散发性DCM的少见病因。.
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