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Author

Dong Li

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Oct 2026

De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons.

These findings establish MAP2K4 as a Mendelian neurodevelopmental disorder-associated gene and identify impaired JNK signaling as the underlying mechanism and expands the spectrum of JNK pathway disorders and underscores the critical role of JNK signaling in human brain development.

Tomoki T. Nomakuchi, A. Rippert, Sabrina A. Santos-De León et al. · 0 citations

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