Transcription Factors in Congenital Heart Disease

Dear Colleagues, 

Congenital heart diseases are still the leading causes of death in neonates despite advances in early in utero and neonatal diagnosis, as well as efficient surgical and personalized drug treatment. Most of the complicated phenotypes such as Tetralogy of Fallot are still challenging, partially due to the lack of an in vitro model or in vivo mouse model that mimics the human condition. Ultimately, understanding the aberrant mechanisms underlying such pathologies requires a better assessment of the molecular events occurring at the cellular level.

The aim of this Special Issue is to collect recent advancement in the field of molecular genetics specifically on the role of cis and trans regulators of cardiac gene transcription. The scope includes both human genetics as well as animal models of gene inactivation or knock-in models that mimic congenital diseases.

Since the first mouse model for a transcription factor gene inactivation that mimicked Holt–Oram Syndrome in humans, many knock-out and knock-in models have been published, and new mutations in such genes have been mapped to different CHD phenotypes, however many of the cases in humans are still with no known etiologies.

With the advent of the CRISPR-Cas9 technology and the results of large genome-wide association studies (GWAS), the focus has shifted to multi-genic etiologies and the mapping of long-range promoter interactions to understand the involvement of transcription factors in cardiac development and the associated defects that cause CHDs.

We are soliciting papers that cover such genomic studies in humans as well as mouse models that focus on the latest gene-editing technology in areas related to the mapping of genes encoding transcription factors as underlying causes of CHDs. These include original research papers, case studies, meta-analyses, and reviews.

Prof. Dr. Georges Nemer
Guest Editor

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• transcription factors
• congenital heart disease
• GWAS
• CRISPR-Cas9
• multi-genic