GNAQ p.R183Q drives capillary malformation (Homo sapiens)
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Description
"Gαq-R183Q, when expressed in ECs [endothelial cells], establishes constitutively active PLCB3 signaling that leads to increased ANGPT2 and a pro-angiogenic, pro-inflammatory phenotype. EC-R183Q are sufficient to form enlarged [capillary malformation, CM]-like vessels in mice, and suppression of ANGPT2 prevents the enlargement. Our study provides the first evidence that endothelial Gαq-R183Q is causative for CM and identifies ANGPT2 as a contributor to CM vascular phenotype." Derived from https://pmc.ncbi.nlm.nih.gov/articles/PMC8702487/.
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Ontology Terms
Saving...Bibliography
- Huang L, Bichsel C, Norris AL, Thorpe J, Pevsner J, Alexandrescu S, Pinto A, Zurakowski D, Kleiman RJ, Sahin M, Greene AK, Bischoff J; ''Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.''; Arterioscler Thromb Vasc Biol, 2022 PubMed Europe PMC Scholia
History
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External references
DataNodes
| View all... |
| Name | Type | Database reference | Comment |
|---|---|---|---|
| ANGPT2 | GeneProduct | ||
| DAG | Metabolite | ||
| GNAQ | GeneProduct | ||
| IP3 | Metabolite | ||
| NFATC1 | GeneProduct | ||
| PIP2 | Metabolite | ||
| PKN1 | GeneProduct | ||
| PKN2 | GeneProduct | ||
| PKN3 | GeneProduct | ||
| PLCB3 | GeneProduct | ||
| PPP3CA | GeneProduct | ||
| PPP3CB | GeneProduct | ||
| PPP3CC | GeneProduct | ||
| PPP3R1 | GeneProduct | ||
| PPP3R2 | GeneProduct | ||
| PRKCA | GeneProduct | ||
| PRKCB | GeneProduct | ||
| PRKCD | GeneProduct | ||
| PRKCE | GeneProduct | ||
| PRKCG | GeneProduct | ||
| PRKCH | GeneProduct | ||
| PRKCI | GeneProduct | ||
| PRKCQ | GeneProduct | ||
| PRKCZ | GeneProduct | ||
| PRKD1 | GeneProduct | ||
| PRKD2 | GeneProduct | ||
| PRKD3 | GeneProduct | ||
| RCAN1 | GeneProduct | "DSCR1.4" originally |
Annotated Interactions
No annotated interactions
