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Article

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.

Human mutation - 1 Mar 2009

Rosenberger Georg, Meien Stefanie, Kutsche Kerstin

Abstract excerpt

Costello syndrome (CS) is a rare congenital disorder characterized by failure to thrive, craniofacial dysmorphisms, cardiac and skin abnormalities, mental retardation, and predisposition to malignancies. CS is caused by heterozygous gain-of-function mutations in HRAS that also occur as somatic al...

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Source

Identifiers

PMID: 19035362
DOI: 10.1002/humu.20855

Genes

HRAS
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19035362-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.PMID 19035362Read ↗

HRAS and the Costello syndrome.Semantic proximity Read ↗

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.Semantic proximity Read ↗

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HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.Semantic proximity Read ↗

Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome.Semantic proximity Read ↗

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.Semantic proximity Read ↗

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.Semantic proximity Read ↗

Germline mutations in HRAS proto-oncogene cause Costello syndrome.Semantic proximity Read ↗

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A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.Semantic proximity Read ↗

Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.Semantic proximity Read ↗

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