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Article

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

European journal of human genetics : EJHG - 1 Aug 2012

Klüppel Michael, Samavarchi-Tehrani Payman, Liu Kela, Wrana Jeffrey L, Hinek Aleksander

Abstract excerpt

Costello syndrome is a pediatric genetic disorder linked to oncogenic germline mutations in the HRAS gene. The disease is characterized by multiple developmental abnormalities, as well as predisposition to malignancies. Our recent observation that heart tissue from patients with Costello syndrome showed a loss of the glycosaminoglycan chondroitin-4-sulfate (C4S) inspired our present study aimed to explore a...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22317973
DOI: 10.1038/ejhg.2012.12
PMCID: PMC3400726

Genes

HRAS
CHST11

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.

Related research

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C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.PMID 22317973Read ↗

HRAS and the Costello syndrome.Semantic proximity Read ↗

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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.Semantic proximity Read ↗

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