Mutation analysis of SHP2, SOS1, and SOS2 related to dysregulation of Ras/MAPK pathway in Noonan syndrome

Mutation analysis of SHP2, SOS1, and SOS2 related to dysregulation of Ras/MAPK pathway in Noonan syndrome

Background: Noonan syndrome, characterized by short stature, congenital heart defects, and facial dysmorphology, results from dysregulation of the Ras/MAPK pathway. Mutations in Ras/MAPK pathway proteins such as SHP2, SOS1, and SOS2 are responsible for this condition. Objective: This study aimed...

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Bibliographic Details
Main Author: Nihayatul Karimah
Format: Article
Language:English
Published: Indonesian Society for Biochemistry and Molecular Biology 2024-08-01
Series:Acta Biochimica Indonesiana
Subjects:
Noonan Syndrome
FoldX
protein mutations
Ras/MAPK pathway
Online Access:https://pbbmi.org/newjurnal/index.php/actabioina/article/view/143
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