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Article

Low-dose dasatinib rescues cardiac function in Noonan syndrome.

JCI insight - 8 Dec 2016

Yi Jae-Sung, Huang Yan, Kwaczala Andrea T, Kuo Ivana Y, Ehrlich Barbara E, Campbell Stuart G, Giordano Frank J, Bennett Anton M

Abstract excerpt

Noonan syndrome (NS) is a common autosomal dominant disorder that presents with short stature, craniofacial dysmorphism, and cardiac abnormalities. Activating mutations in the PTPN11 gene encoding for the Src homology 2 (SH2) domain-containing protein tyrosine phosphatase-2 (SHP2) causes approximately 50% of NS cases. In contrast, NS with multiple lentigines (NSML) is caused by mutations that inactivate SHP2, but...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27942593
DOI: 10.1172/jci.insight.90220
PMCID: PMC5135272

Genes

PTPN11

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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Low-dose dasatinib rescues cardiac function in Noonan syndrome.PMID 27942593Read ↗

Low-dose Dasatinib Ameliorates Hypertrophic Cardiomyopathy in Noonan Syndrome with Multiple Lentigines.Semantic proximity Read ↗

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