Human Genetics of d-Transposition of Great Arteries.
Cilia
Endocardial cushions
Heterotaxy
Laterality
Outflow tract rotation
Second heart field
TGA
Transposition of great arteries
Journal
Advances in experimental medicine and biology
ISSN: 0065-2598
Titre abrégé: Adv Exp Med Biol
Pays: United States
ID NLM: 0121103
Informations de publication
Date de publication:
2024
2024
Historique:
medline:
17
6
2024
pubmed:
17
6
2024
entrez:
17
6
2024
Statut:
ppublish
Résumé
Although several genes underlying occurrence of transposition of the great arteries have been found in the mouse, human genetics of the most frequent cyanotic congenital heart defect diagnosed in neonates is still largely unknown. Development of the outflow tract is a complex process which involves the major genes of cardiac development, acting on myocardial cells from the anterior second heart field, and on mesenchymal cells from endocardial cushions. These genes, coding for transcription factors, interact with each other, and their differential expression conditions the severity of the phenotype. A precise description of the anatomic phenotypes is mandatory to achieve a better comprehension of the complex mechanisms responsible for transposition of the great arteries.
Identifiants
pubmed: 38884741
doi: 10.1007/978-3-031-44087-8_39
doi:
Substances chimiques
Transcription Factors
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
671-681Informations de copyright
© 2024. The Author(s), under exclusive license to Springer Nature Switzerland AG.
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