Associated Papers
Alpelisib, a PI3Kα inhibitor, effectively treats vascular anomalies with diverse genotypes and phenotypes.
Pithadia DJ et al.
Blood Vessels, Thrombosis & Hemostasis, 2026
Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.
Ghasemi R et al.
Clinical Genetics, 2025
Comprehensive phenotypic and genomic characterization of venous malformations.
Hirose K et al.
Human Pathology, 2024
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
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
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.
Paolacci S et al.
Journal of Clinical Medicine, 2020
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW et al.
Genes, Chromosomes & Cancer, 2019
Review of the endothelial pathogenic mechanism of TIE2-related venous malformation.
Du Z et al.
Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2017
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J et al.
The Journal of Investigative Dermatology, 2017
Common and specific effects of TIE2 mutations causing venous malformations.
Nätynki M et al.
Human Molecular Genetics, 2015
Classification and Tie2 mutations in spinal and soft tissue vascular anomalies.
Zhou M et al.
Gene, 2015
Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.
Soblet J et al.
Molecular Syndromology, 2013
KIDs rule: regulatory phosphorylation of RTKs.
Locascio LE et al.
Trends in Biochemical Sciences, 2013
Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.
Brahami N et al.
Genetics Research International, 2013
Somatic mutations in exon 17 of the TEK gene in vascular tumors and vascular malformations.
Ye C et al.
Journal of Vascular Surgery, 2011
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
Wouters V et al.
European Journal of Human Genetics : Ejhg, 2010
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
Limaye N et al.
Nature Genetics, 2009