Human Genetics of Truncus Arteriosus.

Yamagishi, Hiroyuki

Yamagishi, Hiroyuki.

Afiliación

Yamagishi H; Division of Pediatric Cardiology, Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. hyamag@keio.jp.

Adv Exp Med Biol ; 1441: 841-852, 2024.

Article en En | MEDLINE | ID: mdl-38884753

ABSTRACT

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.

Asunto(s)

Tronco Arterial Persistente; Humanos; Tronco Arterial Persistente/genética; Factores de Transcripción/genética; Factores de Transcripción/metabolismo; Tronco Arterial/metabolismo; Síndrome de DiGeorge/genética; Proteínas de Dominio T Box/genética; Proteínas de Dominio T Box/metabolismo; Predisposición Genética a la Enfermedad/genética

Palabras clave

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

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tronco Arterial Persistente Límite: Humans Idioma: En Revista: Adv Exp Med Biol Año: 2024 Tipo del documento: Article País de afiliación: Japón

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