Book chapter
Molecular Pathways and Animal Models of Tricuspid Atresia and Univentricular Heart - 55
Congenital Heart Diseases: The Broken Heart, pp.591-605
Advances in Experimental Medicine and Biology, v. 1441, Springer, Second edition
2024
DOI: 10.1007/978-3-031-44087-8_55
Abstract
The process of valve formation is a complex process that involves intricate interplay between various pathways at precise times. Although we have not completely elucidated the molecular pathways that lead to normal valve formation, we have identified a few major players in this process. We are now able to implicate TGF-ß, BMP, and NOTCH as suspects in tricuspid atresia (TA), as well as their downstream targets: NKX2-5, TBX5, NFATC1Nuclear factor of activated T-cells (NFAT), GATA4GATA binding protein (GATA)GATA4, and SOX9SRY (sex determining region Y)-box (SOX)SOX9. We know that the TGF-ß and the BMP pathways converge on the SMAD4SMAD family member (SMAD)SMAD4 molecule, and we believe that this molecule plays a very important role to tie both pathways to TA. Similarly, we look at the NOTCH pathway and identify the HEY2 as a potential link between this pathway and TA. Another transcription factor that has been implicated in TA is NFATC1Nuclear factor of activated T-cells (NFAT). While several mouse models exist that include part of the TA abnormality as their phenotype, no true mouse modelMousemodels can be said to represent TA. Bridging this gap will surely shed light on this complex molecular pathway and allow for better understanding of the disease process.
Details
- Title: Subtitle
- Molecular Pathways and Animal Models of Tricuspid Atresia and Univentricular Heart - 55
- Creators
- Kamel Shibbani - University of Iowa Hospitals and ClinicsGeorge Nemer - American University of Beirut
- Resource Type
- Book chapter
- Publication Details
- Congenital Heart Diseases: The Broken Heart, pp.591-605
- Edition
- Second edition
- Publisher
- Springer; Cham
- Series
- Advances in Experimental Medicine and Biology; v. 1441
- DOI
- 10.1007/978-3-031-44087-8_55
- ISSN
- 0065-2598
- Language
- English
- Date published
- 2024
- Academic Unit
- Stead Family Department of Pediatrics; Cardiology
- Record Identifier
- 9984702940002771
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