Impact of Pathogenic Variants of the Ras-MAPK Pathway on Major White Matter Tracts in the Human Brain
Monica Siqueiros-Sanchez,
Erpeng Dai,
Chloe A. McGhee
et al.
Abstract: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 Ras pathway hyper-activation effects on white-matter, it is unknown whether these effects are synd… Show more
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