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Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities.

Translational psychiatry - 6 Jul 2023

Rai Bhavana, Naylor Paige E, Siqueiros-Sanchez Monica, Wintermark Max, Raman Mira M, Jo Booil, Reiss Allan L, Green Tamar

Abstract excerpt

The RASopathies are genetic syndromes associated with pathogenic variants causing dysregulation of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway, essential for brain development, and increased risk for neurodevelopmental disorders. Yet, the effects of most pathogenic variants on the human brain are unknown. We examined: (1) How Ras-MAPK activating variants of PTPN11/SOS1 protein-coding genes affect...

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Brain
Child
Gene Expression
Gray Matter
Mitogen-Activated Protein Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Noonan Syndrome

Protein Tyrosine Phosphatases

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PMID: 37407569
DOI: 10.1038/s41398-023-02504-4
PMCID: PMC10322993

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