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Article

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.

Proceedings of the National Academy of Sciences of the United States of America - 24 Mar 2009

Araki Toshiyuki, Chan Gordon, Newbigging Susan, Morikawa Lily, Bronson Roderick T, Neel Benjamin G

Abstract excerpt

Noonan syndrome (NS), the most common single-gene cause of congenital heart disease, is an autosomal dominant disorder that also features proportionate short stature, facial abnormalities, and an increased risk of myeloproliferative disease. Germline-activating mutations in PTPN11, which encodes...

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Share to Endocardium
Share to Gene Knock-In Techniques
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Open in PubMed Open full text

Identifiers

PMID: 19251646
DOI: 10.1073/pnas.0810053106
PMCID: PMC2649209

Genes

PTPN11
KRAS
RAF1
SOS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19251646-2026-09-02.2. 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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Research trail→

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Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.PMID 19251646Read ↗

Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.Semantic proximity Read ↗

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.Semantic proximity Read ↗

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.Semantic proximity Read ↗

Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.Semantic proximity Read ↗

Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve StenosisSemantic proximity Read ↗

Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome.Semantic proximity Read ↗

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K-RasV14I recapitulates Noonan syndrome in mice.Semantic proximity Read ↗

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The role of the protein tyrosine phosphatase SHP2 in cardiac development and disease.Semantic proximity Read ↗

Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.Semantic proximity Read ↗

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.Semantic proximity Read ↗

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