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Article

Tie2-R849W mutant in venous malformations chronically activates a functional STAT1 to modulate gene expression.

The Journal of investigative dermatology - 1 Sept 2008

Hu Hsiao-Tang, Huang Yi-Hsien, Chang Yi-Ann, Lee Chien-Kuo, Jiang Meei-Jyh, Wu Li-Wha

Abstract excerpt

Tie2 is an endothelial receptor tyrosine kinase. An amino-acid substitution of tryptophan for arginine at residue 849 (Tie2-R849W) leads to a ligand-independent activation of its kinase activity. This mutation has been associated with familial venous malformations (VMs), manifested by variable thickness or lack of smooth-muscle cells in the veins of patient lesions. The underlying mechanism for Tie2-R849W action...

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Share to Endothelium, Vascular
Share to Interferon Regulatory Factor-1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MAP Kinase Kinase 4

Share to Receptor, TIE-2

Share to STAT1 Transcription Factor

Share to Umbilical Veins

Share to Vascular Malformations

Source

Identifiers

PMID: 18401423
DOI: 10.1038/jid.2008.89

Genes

STAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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