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Article

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.

The Journal of clinical investigation - 1 Dec 2010

Chen Peng-Chieh, Wakimoto Hiroko, Conner David, Araki Toshiyuki, Yuan Tao, Roberts Amy, Seidman Christine E, Bronson Roderick, Neel Benjamin G, Seidman Jonathan G, Kucherlapati Raju

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature, unique facial features, and congenital heart disease. About 10%-15% of individuals with NS have mutations in son of sevenless 1 (SOS1), which encodes a RAS and RAC guanine nucleotide exchange factor (GE...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 21041952
DOI: 10.1172/JCI43910
PMCID: PMC2993597

Genes

SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21041952-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.PMID 21041952Read ↗

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.Semantic proximity Read ↗

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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.Semantic proximity Read ↗

[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].Semantic proximity Read ↗

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.Semantic proximity Read ↗

Characterization of a novel KRAS mutation identified in Noonan syndrome.Semantic proximity Read ↗

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.Semantic proximity Read ↗

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