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Article

Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.

Disease models & mechanisms - 13 Mar 2018

Aoidi Rifdat, Houde Nicolas, Landry-Truchon Kim, Holter Michael, Jacquet Kevin, Charron Louis, Krishnaswami Suguna Rani, Yu Benjamin D, Rauen Katherine A, Bisson Nicolas, Newbern Jason, Charron Jean

Abstract excerpt

The RAS/MAPK signaling pathway is one of the most investigated pathways, owing to its established role in numerous cellular processes and implication in cancer. Germline mutations in genes encoding members of the RAS/MAPK pathway also cause severe developmental syndromes collectively known as RASopathies. These syndromes share overlapping characteristics, including craniofacial dysmorphology, cardiac...

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Source

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Identifiers

PMID: 29590634
DOI: 10.1242/dmm.031278
PMCID: PMC5897723

Genes

BRAF
GFAP
KRAS
MAP2K1
MAP2K2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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