Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects.
Xiu-Yun YinHuan-Xin ChenZhuo ChenQin YangJun HanGuo-Wei HePublished in: The journal of gene medicine (2022)
These sequence variants identified from the promoter region of ISL1 gene in ASD patients are probably involved in the development of ASD by affecting the transcriptional activity and altering ISL1 levels. Therefore, these findings may provide new insights into the molecular etiology and potential therapeutic strategy of ASD.
Keyphrases
- autism spectrum disorder
- copy number
- end stage renal disease
- dna methylation
- transcription factor
- attention deficit hyperactivity disorder
- gene expression
- genome wide
- chronic kidney disease
- endothelial cells
- newly diagnosed
- ejection fraction
- prognostic factors
- peritoneal dialysis
- genome wide identification
- atrial fibrillation
- heart failure
- patient reported outcomes
- left ventricular
- hypertrophic cardiomyopathy
- genome wide analysis
- heat shock