Human Genetics of Truncus Arteriosus.
Adv Exp Med Biol
; 1441: 841-852, 2024.
Article
em En
| MEDLINE
| ID: mdl-38884753
ABSTRACT
Integrated human genetics and molecular/developmental biology studies have revealed that truncus arteriosus is highly associated with 22q11.2 deletion syndrome. Other congenital malformation syndromes and variants in genes encoding TBX, GATA, and NKX transcription factors and some signaling proteins have also been reported as its etiology.
Palavras-chave
22q11.2 deletion syndrome; CHARGE syndrome; CHD7; Congenital heart disease; DiGeorge syndrome; Diabetic mother; GATA transcription factors; GATA4GATA binding protein (GATA)GATA4; GATA6GATA binding protein (GATA)GATA6; NKX transcription factors; NKX2-5; NKX2-6; Neural crest cells; PLXNA2; SEMA3CSemaphorin (SEMA)SEMA3C; Second heart field; TBX transcript; TBX1; Tetralogy of Fallot; VACTERL syndrome
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Persistência do Tronco Arterial
Limite:
Humans
Idioma:
En
Revista:
Adv Exp Med Biol
Ano de publicação:
2024
Tipo de documento:
Article