Vascular Malformations and Hemangiomas

An endothelial-specific TIE2-L914F mouse model reveals cellular mechanisms of venous malformation progression and recapitulates the patient's response to targeted therapy

This study creates a TIE2-L914F mouse model to study venous malformation progression and shows it responds to rapamycin treatment.

Oncogenic PIK3CA mutations cause lineage-selective niche corruption

This study shows that PIK3CA mutations cause lineage-specific niche changes in vascular endothelium, leading to tissue malformations that can be partially prevented by PI3K inhibition.

A de novo GABPA Variant in a Patient with Multifocal Cutaneous Vascular Tumors of an Unclassified Entity

The paper identifies a novel de novo GABPA variant in a patient with unclassified vascular tumors, linking it to disrupted vascular development through structural and functional analyses.

Droplet Digital PCR as a First-Line Detection Tool in the Genetic Diagnosis of Vascular Anomalies

The paper evaluates ddPCR as a primary diagnostic tool for vascular anomalies, finding it detects 51% of pathogenic variants in a cohort, with an overall diagnostic yield of 75% when combined with NGS.

The Capillary endothelial cell-governed niche sustains angiogenesis in proliferating infantile hemangioma via multilayer stromal support

This study identifies capillary endothelial cells and their interactions with pericytes and mesenchymal stem cells as key drivers of angiogenesis in infantile hemangioma.

Dysregulated flow responses drive pathogenesis in a cellular model of Sturge-Weber syndrome

This study investigates how dysregulated flow responses in endothelial cells contribute to Sturge-Weber syndrome pathogenesis using cellular models and omics analyses.

PIK3CA-related overgrowth spectrum (PROS) zebrafish models reveal pan-lineage developmental dysregulation

The paper develops zebrafish models of PROS to show that PIK3CA mutations cause non-cell-autonomous overgrowth through pan-lineage gene expression and communication changes.

Single-vessel transcriptome map pathological landscapes and reveal NR2F2-mediated smooth muscle cell phenotype acquisition in capillary malformations

The paper constructs a spatial transcriptomic atlas of capillary malformations, identifies EndMT and AJ disruption, and shows NR2F2 drives SMC phenotype acquisition in vascular lesions.

Semaphorin 3A and 3F overexpression in TIE2 hyperactive endothelial cells contribute to the pathological lumen expansion in venous malformation

This study shows that TIE2-mutant endothelial cells overexpress Semaphorin 3A and 3F, which repel wild-type endothelial cells and drive pathological lumen expansion in venous malformations.

Phosphoproteomics Maps Calcineurin-NFAT-DSCR1.4 Signaling as Druggable Axis in Gαq-R183Q-Driven Capillary Malformations

This study identifies a calcineurin-NFAT-DSCR1.4 signaling axis driven by Gq-R183Q mutation in endothelial cells, showing its role in capillary malformations and potential as a therapeutic target.

Context-dependent response of endothelial cells to PIK3CA mutation

This study shows that PIK3CAH1047R mutation causes clonal expansion in capillary and venous endothelial cells but not in arterial cells, revealing stage-dependent responses and a protective mechanism against arterial damage.

Embryological cellular origins and hypoxia-mediated mechanisms in PIK3CA-Driven refractory vascular malformations

This study identifies embryonic origins and hypoxia-driven mechanisms in PIK3CA-driven vascular malformations, showing that HIF-1 and VEGF-A inhibition reduces abnormalities.

R(+) Propranolol decreases lipid accumulation in hemangioma-derived stem cells

This study shows R(+) propranolol reduces lipid accumulation in hemangioma-derived stem cells in vitro and in a mouse model, without affecting adipogenic transcription factors.

Venous activation of MEK/ERK drives development of arteriovenous malformation and blood 2 flow anomalies with loss of Rasa1

The paper shows that loss of Rasa1 in zebrafish leads to AVMs through venous MEK/ERK overactivation, altered blood flow, and reduced klf2a expression.

Low dose AKT inhibitor miransertib cures PI3K-related vascular malformations in preclinical models of human disease

The paper develops a preclinical model of PI3K-driven vascular malformations and shows that low-dose AKT inhibitor miransertib prevents and regresses these malformations in mice and human endothelial cells.