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Article

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation.

The Journal of clinical investigation - 1 Mar 2011

Wu Xue, Simpson Jeremy, Hong Jenny H, Kim Kyoung-Han, Thavarajah Nirusha K, Backx Peter H, Neel Benjamin G, Araki Toshiyuki

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden death in children and young adults. Abnormalities in several signaling pathways are implicated in the pathogenesis of HCM, but the role of the RAS-RAF-MEK-ERK MAPK pathway has been controversial. Noonan syndrome (NS) is one of several autosomal-dominant conditions known as RASopathies, which are caused by mutations in different components of this...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Extracellular Signal-Regulated MAP Kinases

Share to Germ-Line Mutation

Share to Mice, Transgenic

Share to Mitogen-Activated Protein Kinase Kinases

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Share to Proto-Oncogene Proteins c-raf

Source

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Identifiers

PMID: 21339642
DOI: 10.1172/JCI44929
PMCID: PMC3049402

Genes

RAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation.PMID 21339642Read ↗

Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.Semantic proximity Read ↗

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