Associated Papers
Harnessing induced pluripotent stem cells and organoids for disease modeling and precision medicine.
Lee CJ et al.
Stem Cell Research & Therapy, 2026
Alpelisib, a PI3Kα inhibitor, effectively treats vascular anomalies with diverse genotypes and phenotypes.
Pithadia DJ et al.
Blood Vessels, Thrombosis & Hemostasis, 2026
Constitutive, mosaic expression of TIE2 p.L914F during mouse development causes formation of venous malformation.
Bischoff LJ et al.
Biorxiv : the Preprint Server for Biology, 2026
Molecular Characterization of Vascular Anomalies Tissues Guides Clinical Diagnosis.
Henslee SB et al.
Lymphatic Research and Biology, 2026
Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple "Hits" in Non-Malignant Lesions.
Nguyen B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2026
Vascular malformations: from genetics to therapeutics.
Morin G et al.
Embo Molecular Medicine, 2026
Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.
Mitamura S et al.
Molecular Biology Reports, 2025
Blue Nodules in a 2-Year-Old Female With Chronic Severe Anemia.
Ross KR et al.
International Journal of Dermatology, 2025
Semaphorin 3A and 3F Promote Lumen Expansion in TIE2-Mutated Venous Malformation.
Schrenk S et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.
Kuentz P et al.
The British Journal of Dermatology, 2025
ACE-mediated Glycosylation Stabilizes PSAP To Promote GPR37-dependent Macrophage-Nucleus Pulposus Cells Crosstalk and TGFβ Signaling in Alleviating Intervertebral Disc Degeneration.
Guo Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling.
Bischoff LJ et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2025
Somatic TEK Mutation Identified in a Patient with Calvarial Venous Malformations.
Fan B et al.
Genes, 2025
Theragnostic approach of venous malformations in 2025: Similarities and differences with oncology advances.
Dompmartin A et al.
Presse Medicale (paris, France : 1983), 2025
Cellular heterogeneity and tissue specificity in venous malformations: Implications for pathogenesis and targeted therapies.
He Y et al.
Progress in Biophysics and Molecular Biology, 2025
Lack of association between MALAT1 rs591291 and rs3200401 polymorphisms and venous malformation risk in the Chinese pediatric population.
Lin X et al.
Biochemistry and Biophysics Reports, 2025
Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling.
Bischoff LJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Semaphorin 3A and 3F overexpression in TIE2 hyperactive endothelial cells contribute to the pathological lumen expansion in venous malformation.
Schrenk S et al.
Biorxiv : the Preprint Server for Biology, 2025
Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.
O'Sullivan S et al.
American Journal of Medical Genetics. Part A, 2025
Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.
Ghasemi R et al.
Clinical Genetics, 2025
Ribosomal protein L36-mediated selective loading of microRNA-4432 into extracellular vesicles contributes to perivascular cell dysfunction in venous malformations.
Chen GH et al.
The British Journal of Dermatology, 2025
Generation of iPSC-derived human venous endothelial cells for the modeling of vascular malformations and drug discovery.
Pan Z et al.
Cell Stem Cell, 2025
Human iPSCs offer an alternative for modeling vascular malformation.
DeFronzo S et al.
Cell Stem Cell, 2025
Identification of cell type-specific cell-penetrating peptides through in vivo phage display leveraged by next generation sequencing.
Kohl F et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
Endothelial GNAQ p.R183Q mutation confers hemoporfin-mediated photodynamic therapy resistance and drives pathological angiogenesis via the angiopoietin-2/TIE2/PI3K/AKT pathway.
Liu L et al.
Frontiers in Cell and Developmental Biology, 2025
Venous Malformations: Unraveling Latest Mechanisms and Bridging Gaps in Targeted Therapy Development.
Jiang X et al.
International Journal of Biological Sciences, 2025
Blue rubber blister nevus syndrome: A case report.
Wang WJ et al.
World Journal of Gastrointestinal Surgery, 2024
Correlation between the miR-618 rs2682818 C>A polymorphism and venous malformation susceptibility.
Lin X et al.
Biotechnology and Applied Biochemistry, 2024
Human iPSC and CRISPR targeted gene knock-in strategy for studying the somatic TIE2L914F mutation in endothelial cells.
Lazovic B et al.
Angiogenesis, 2024
Comprehensive phenotypic and genomic characterization of venous malformations.
Hirose K et al.
Human Pathology, 2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum.
Green TE et al.
Genetics in Medicine Open, 2024
Detection of low-frequency mutations in clinical samples by increasing mutation abundance via the excision of wild-type sequences.
Chen W et al.
Nature Biomedical Engineering, 2023
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Zhang B et al.
Orphanet Journal of Rare Diseases, 2023
Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions.
Clapp A et al.
Journal of Vascular Anomalies, 2023
Activity of a TIE2 inhibitor (rebastinib) in a patient with a life-threatening cervicofacial venous malformation.
Triana P et al.
Pediatric Blood & Cancer, 2023
High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
Hernandez PV et al.
American Journal of Medical Genetics. Part A, 2023
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D et al.
Nature Medicine, 2023
Clinical and molecular characteristics of kinase domain duplications across diverse cancer types in the Chinese population.
Lai X et al.
Cancer Medicine, 2023
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A et al.
Journal of Medical Genetics, 2023
Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.
Cao Y et al.
Genetics in Medicine Open, 2023
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations.
Nozawa A et al.
Journal of Human Genetics, 2022
The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.
Butnariu LI et al.
International Journal of Molecular Sciences, 2022
Repurposing alpelisib, an anti-cancer drug, for the treatment of severe TIE2-mutated venous malformations: Preliminary pharmacokinetics and pharmacodynamic data.
Remy A et al.
Pediatric Blood & Cancer, 2022