Research progress in diseases associated with genetic variants of GATOR1 complex / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 887-891, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-981842
ABSTRACT
The GATOR1 complex is located at the upstream of the mTOR signal pathway and can regulate the function of mTORC1. Genetic variants of the GATOR1 complex are closely associated with epilepsy, developmental delay, cerebral cortical malformation and tumor. This article has reviewed the research progress in diseases associated with genetic variants of the GATOR1 complex, with the aim to provide a reference for the diagnosis and treatment of such patients.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Transducción de Señal
/
Proteínas Activadoras de GTPasa
/
Epilepsia
/
Diana Mecanicista del Complejo 1 de la Rapamicina
/
Neoplasias
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS