Impact of Pathogenic Variants of the Ras-MAPK Pathway on Major White Matter Tracts in the Human Brain

Abstract excerpt

Noonan syndrome (NS) and Neurofibromatosis type-1 (NF1) are genetic conditions linked to pathogenic variants in genes of the Ras-MAPK signaling pathway. Both conditions hyperactivate signaling of the Ras pathway and exhibit a high prevalence of neuropsychiatric disorders. Further, animal models of NS and NF1 and human imaging studies show white-matter abnormalities in both conditions. While these findings suggest...

Topics

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• Advanced Neuroimaging Techniques and Applications
• Brain
• Child
• Gene Expression
• Gray Matter
• Mitogen-Activated Protein Kinases
• Neurogenesis and neuroplasticity mechanisms
• RNA regulation and disease

Identifiers and source

Literature Corpus work

80d9f33c-4be2-5873-baf5-68eeb7abfb76

DOI

10.1101/2024.04.17.590011