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Article

Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.

Gene - 5 Apr 2020

Chen Jing, Che Lin, Xu Chao, Zhao Suzhou, Yang Jiangfei, Li Mengting, Li Guimei, Shen Yiping

Abstract excerpt

MAP2K1 encodes mitogen-activated protein kinase 1 (MEK1). Mutations in MAP2K1 lead to continuous activation of MEK/ERK signaling pathway, giving rise to cardio-facio-cutaneous syndrome (CFCS). However, the molecular mechanisms of abnormal activation of MEK/ERK signaling pathway and the role of autophagy, if any, in manifesting CFCS in MAP2K mutants remain unclear. Here, we report three Chinese children with CFCS...

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Source

Identifiers

PMID: 31972311
DOI: 10.1016/j.gene.2020.144369

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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