scholarly journals Genetic analysis of the CITED2 gene promoter in isolated and sporadic congenital ventricular septal defects

2021 ◽  
Vol 25 (4) ◽  
pp. 2254-2261
Author(s):  
Si‐Qiang Zheng ◽  
Huan‐Xin Chen ◽  
Xiao‐Cheng Liu ◽  
Qin Yang ◽  
Guo‐Wei He
Keyword(s):  
Genetic Analysis ◽  
Gene Promoter ◽  
Ventricular Septal Defects ◽  
Septal Defects

Genetic analysis of the SIRT1 gene promoter in ventricular septal defects

2012 ◽  
Vol 425 (4) ◽  
pp. 741-745 ◽  
Author(s):  
Jiping Shan ◽  
Shuchao Pang ◽  
Hongxin Wanyan ◽  
Wen Xie ◽  
Xianyun Qin ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Promoter ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Sirt1 Gene

Genetic analysis of the TBX3 gene promoter in ventricular septal defects

Gene ◽  
2013 ◽  
Vol 512 (2) ◽  
pp. 185-188 ◽  
Author(s):  
Dongfeng Chen ◽  
Yanli Qiao ◽  
Haihong Meng ◽  
Shuchao Pang ◽  
Wenhui Huang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Promoter ◽  
Ventricular Septal Defects ◽  
Septal Defects

scholarly journals Genetic Analysis of the CITED2 Gene Promoter in Isolated and Sporadic Congenital Ventricular Septal Defects

2021 ◽  
Vol 35 (S1) ◽  
Author(s):  
Si‐Qiang Zheng ◽  
Huan‐Xin Chen ◽  
Xiao‐Cheng Liu ◽  
Qin Yang ◽  
Guo‐Wei He
Keyword(s):  
Genetic Analysis ◽  
Gene Promoter ◽  
Ventricular Septal Defects ◽  
Septal Defects

Genetic analysis of the TBX1 gene promoter in ventricular septal defects

2012 ◽  
Vol 370 (1-2) ◽  
pp. 53-58 ◽  
Author(s):  
Haihua Wang ◽  
Dongfeng Chen ◽  
Liming Ma ◽  
Haihong Meng ◽  
Yumei Liu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Promoter ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Tbx1 Gene

Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects

Gene ◽  
2012 ◽  
Vol 500 (1) ◽  
pp. 28-31 ◽  
Author(s):  
Yanli Qiao ◽  
Hongxin Wanyan ◽  
Qining Xing ◽  
Wen Xie ◽  
Shuchao Pang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Promoter Region ◽  
Gene Promoter ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Gene Promoter Region

Genetic analysis of the promoter region of the GATA4 gene in patients with ventricular septal defects

2012 ◽  
Vol 159 (5) ◽  
pp. 376-382 ◽  
Author(s):  
Guanghua Wu ◽  
Jiping Shan ◽  
Shuchao Pang ◽  
Xiaodan Wei ◽  
Hao Zhang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Promoter Region ◽  
Ventricular Septal Defects ◽  
Septal Defects

Genetic analysis of an enhancer of the NKX2-5 gene in ventricular septal defects

Gene ◽  
2012 ◽  
Vol 508 (1) ◽  
pp. 106-109 ◽  
Author(s):  
Xianyun Qin ◽  
Qining Xing ◽  
Liming Ma ◽  
Haihong Meng ◽  
Yumei Liu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Ventricular Septal Defects ◽  
Septal Defects

scholarly journals Novel and Functional DNA Sequence Variants within the GATA6 Gene Promoter in Ventricular Septal Defects

2014 ◽  
Vol 15 (7) ◽  
pp. 12677-12687 ◽  
Author(s):  
Chunyu Li ◽  
Xianke Li ◽  
Shuchao Pang ◽  
Wei Chen ◽  
Xianyun Qin ◽  
...  
Keyword(s):  
Dna Sequence ◽  
Gene Promoter ◽  
Sequence Variants ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Dna Sequence Variants ◽  
Functional Dna ◽  
Gata6 Gene

Identification of Variants of ISL1 Gene Promoter and Cellular Functions in Isolated Ventricular Septal Defects

2021 ◽  
Author(s):  
Si-Qiang Zheng ◽  
Huan-Xin Chen ◽  
Xiao-Cheng Liu ◽  
Qin Yang ◽  
Guo-Wei He
Keyword(s):  
Transcription Factors ◽  
Promoter Region ◽  
Gene Promoter ◽  
Chinese Patients ◽  
Luciferase Reporter ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
The Impact ◽  
Gene Promoter Region

Ventricular septal defects (VSD) are the most common congenital heart defects (CHD). Studies have documented that ISL1 has a crucial impact on cardiac growth, but the role of variants in the ISL1 gene promoter in patients with VSD has not been explored. In 400 subjects (200 isolated and sporadic VSD patients: 200 healthy controls), we investigated the ISL1 gene promoter variant and performed cellular functional experiments by using the dual-luciferase reporter assay to verify the impact on gene expression. In the ISL1 promoter, 5 variants were found only in VSD patients by sequencing. Cellular functional experiments demonstrated that three variants decreased the transcriptional activity of the ISL1 promoter (P < 0.05). Further analysis with the online JASPAR database demonstrated that a cluster of putative binding sites for transcription factors may be altered by these variants, possibly resulting in change of ISL1 protein expression and VSD formation. Our study has for the first time identified novel variants in the ISL1 gene promoter region in the Han Chinese patients with isolated and sporadic VSD. Additionally, the cellular functional experiments, electrophoretic mobility shift assay, and bioinformatic analysis have demonstrated that these variants significantly alter the expression of the ISL1 gene and affect the binding of transcription factors, likely resulting in VSD. Therefore, this study may provide new insights into the role of the gene promoter region for a better understanding of genetic basis of the formation of CHD and may promote further investigations on mechanism of the formation of CHD.

Novel and functional variants within the TBX18 gene promoter in ventricular septal defects

2013 ◽  
Vol 382 (1-2) ◽  
pp. 121-126 ◽  
Author(s):  
Liming Ma ◽  
Jianjun Li ◽  
Yumei Liu ◽  
Shuchao Pang ◽  
Wenhui Huang ◽  
...  
Keyword(s):  
Gene Promoter ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Functional Variants
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