Molecular Pathways and Animal Models of Tricuspid Atresia and Univentricular Heart.
Adv Exp Med Biol
; 1441: 885-900, 2024.
Article
em En
| MEDLINE
| ID: mdl-38884757
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, NFATC1, GATA4, and SOX9. We know that the TGF-ß and the BMP pathways converge on the 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 NFATC1. While several mouse models exist that include part of the TA abnormality as their phenotype, no true mouse model 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.
Palavras-chave
AV canal; Atrioventricular canal; BMP; EMT; Epithelialmesenchymal transition; GATA4GATA binding protein (GATA)GATA4; HEY2; Looping; Mesenchymal cells; Mutant mice; NFATC1Nuclear factor of activated T-cells (NFAT); NKX2-5; NOTCH; SMAD4SMAD family member (SMAD)SMAD4; SOX9SRY (sex determining region Y)-box (SOX)SOX9; TA; TBX5; TGF-ß; Transforming growth factor; Tricuspid atresia; Trisomy 16; Univentricular heart; VEGF
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transdução de Sinais
/
Atresia Tricúspide
/
Modelos Animais de Doenças
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Adv Exp Med Biol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos