Associated Papers
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
Blue Nodules in a 2-Year-Old Female With Chronic Severe Anemia.
Ross KR et al.
International Journal of Dermatology, 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
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
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
Endothelial TIE2 Mutation Induced Contraction Deficiency of Vascular Smooth Muscle Cells via Phenotypic Transition Regulation in Venous Malformations.
Du Z et al.
International Journal of Medical Sciences, 2025
Venous Malformations: Unraveling Latest Mechanisms and Bridging Gaps in Targeted Therapy Development.
Jiang X et al.
International Journal of Biological Sciences, 2025
Strain-release alkylation of Asp12 enables mutant selective targeting of K-Ras-G12D.
Zheng Q et al.
Nature Chemical Biology, 2024
Comprehensive phenotypic and genomic characterization of venous malformations.
Hirose K et al.
Human Pathology, 2024
Molecular Landscape of Tourette's Disorder.
Widomska J et al.
International Journal of Molecular Sciences, 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
How we approach genetics in the diagnosis and management of vascular anomalies.
Setty BA et al.
Pediatric Blood & Cancer, 2022
Cerebral cavernous malformations do not fall in the spectrum of PIK3CA-related overgrowth.
Zhang J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study.
Martinez-Glez V et al.
Clinical Genetics, 2022
Sirolimus as a promising drug therapy for blue rubber bleb nevus syndrome: Two-case report.
Ma JX et al.
Sage Open Medical Case Reports, 2022
Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.
Bell LM et al.
Human Molecular Genetics, 2021
Bockenheimer disease is associated with a TEK variant.
Sudduth CL et al.
Cold Spring Harbor Molecular Case Studies, 2021
Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.
Colmenero I et al.
Dermatopathology (basel, Switzerland), 2021
Genetic landscape of common venous malformations in the head and neck.
Du Z et al.
Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2021
A Xenograft Model for Venous Malformation.
Goines J et al.
Methods in Molecular Biology (clifton, N.j.), 2021
Genetic syndromes with vascular malformations - update on molecular background and diagnostics.
Ustaszewski A et al.
Archives of Medical Science : Ams, 2021
A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.
Li Y et al.
Human Genetics, 2020
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.
Paolacci S et al.
Journal of Clinical Medicine, 2020
Genetics of vascular anomalies.
Nguyen HL et al.
Seminars in Pediatric Surgery, 2020
Cell Populations Expressing Stemness-Associated Markers in Vascular Anomalies.
Kilmister EJ et al.
Frontiers in Surgery, 2020
Constitutive Active Mutant TIE2 Induces Enlarged Vascular Lumen Formation with Loss of Apico-basal Polarity and Pericyte Recruitment.
Cai Y et al.
Scientific Reports, 2019
A Tie2 kinase mutation causing venous malformations increases phosphorylation rates and enhances cooperativity.
Kennedy MA et al.
Biochemical and Biophysical Research Communications, 2019
Etiology and Genetics of Congenital Vascular Lesions.
Queisser A et al.
Otolaryngologic Clinics of North America, 2018
Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report.
Wang KL et al.
Medicine, 2018
Transgenic Expression of A Venous Malformation Related Mutation, TIE2-R849W, Significantly Induces Multiple Malformations of Zebrafish.
Du Z et al.
International Journal of Medical Sciences, 2018
Review of the endothelial pathogenic mechanism of TIE2-related venous malformation.
Du Z et al.
Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2017
Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene but may be associated with excessive expression of Src and p-Src.
Brahami N et al.
Journal of Negative Results in Biomedicine, 2017
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J et al.
The Journal of Investigative Dermatology, 2017
A selective chemical probe for exploring the role of CDK8 and CDK19 in human disease.
Dale T et al.
Nature Chemical Biology, 2015
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
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
McDonell LM et al.
Human Molecular Genetics, 2015
Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects.
Boscolo E et al.
The Journal of Clinical Investigation, 2015
Genetics of vascular malformations.
Nguyen HL et al.
Seminars in Pediatric Surgery, 2014
Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.
Uebelhoer M et al.
Human Molecular Genetics, 2013
Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.
Soblet J et al.
Molecular Syndromology, 2013