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Journal Abstract Search

384 related items for PubMed ID: 19079259

  • 1. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
    Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M.
    Nat Genet; 2009 Jan; 41(1):118-24. PubMed ID: 19079259
    [Abstract] [Full Text] [Related]

  • 2. Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
    Wouters V, Limaye N, Uebelhoer M, Irrthum A, Boon LM, Mulliken JB, Enjolras O, Baselga E, Berg J, Dompmartin A, Ivarsson SA, Kangesu L, Lacassie Y, Murphy J, Teebi AS, Penington A, Rieu P, Vikkula M.
    Eur J Hum Genet; 2010 Apr; 18(4):414-20. PubMed ID: 19888299
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  • 3. Somatic mutations in exon 17 of the TEK gene in vascular tumors and vascular malformations.
    Ye C, Pan L, Huang Y, Ye R, Han A, Li S, Li X, Wang S.
    J Vasc Surg; 2011 Dec; 54(6):1760-8. PubMed ID: 21962923
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  • 4. Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.
    Soblet J, Limaye N, Uebelhoer M, Boon LM, Vikkula M.
    Mol Syndromol; 2013 Apr; 4(4):179-83. PubMed ID: 23801934
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  • 6. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
    Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M.
    J Invest Dermatol; 2017 Jan; 137(1):207-216. PubMed ID: 27519652
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  • 8. A Tie2 kinase mutation causing venous malformations increases phosphorylation rates and enhances cooperativity.
    Kennedy MA, Xu Z, Wu Y, Sohl CD.
    Biochem Biophys Res Commun; 2019 Feb 19; 509(4):898-902. PubMed ID: 30638931
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  • 9. Common and specific effects of TIE2 mutations causing venous malformations.
    Nätynki M, Kangas J, Miinalainen I, Sormunen R, Pietilä R, Soblet J, Boon LM, Vikkula M, Limaye N, Eklund L.
    Hum Mol Genet; 2015 Nov 15; 24(22):6374-89. PubMed ID: 26319232
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  • 11. AKT/FOXO1 axis links cross-talking of endothelial cell and pericyte in TIE2-mutated venous malformations.
    Si Y, Huang J, Li X, Fu Y, Xu R, Du Y, Cheng J, Jiang H.
    Cell Commun Signal; 2020 Aug 31; 18(1):139. PubMed ID: 32867785
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  • 12. STAT1 activation by venous malformations mutant Tie2-R849W antagonizes VEGF-A-mediated angiogenic response partly via reduced bFGF production.
    Huang YH, Wu MP, Pan SC, Su WC, Chen YW, Wu LW.
    Angiogenesis; 2013 Jan 31; 16(1):207-22. PubMed ID: 23086340
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  • 13. Human iPSC and CRISPR targeted gene knock-in strategy for studying the somatic TIE2L914F mutation in endothelial cells.
    Lazovic B, Nguyen HT, Ansarizadeh M, Wigge L, Kohl F, Li S, Carracedo M, Kettunen J, Krimpenfort L, Elgendy R, Richter K, De Silva L, Bilican B, Singh P, Saxena P, Jakobsson L, Hong X, Eklund L, Hicks R.
    Angiogenesis; 2024 Aug 31; 27(3):523-542. PubMed ID: 38771392
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  • 14. Genetic landscape of common venous malformations in the head and neck.
    Du Z, Liu JL, You YH, Wang LZ, He J, Zheng JW, Zhang ZY, Wang YA.
    J Vasc Surg Venous Lymphat Disord; 2021 Jul 31; 9(4):1007-1016.e7. PubMed ID: 33248299
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  • 16. Cutaneomucosal venous malformations are linked to the TIE2 mutation in a large Chinese family.
    Shu W, Lin Y, Hua R, Luo Y, He N, Fang L, Tan J, Lu J, Hu Z, Yuan Z.
    Exp Dermatol; 2012 Jun 31; 21(6):456-7. PubMed ID: 22621187
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  • 18. 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, Subramaniam S, Al-Ddafari MS, Elkaim C, Harmand PO, Sari BE, Lefranc G, Aribi M.
    J Negat Results Biomed; 2017 Mar 20; 16(1):9. PubMed ID: 28316284
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  • 20. Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.
    Castillo SD, Tzouanacou E, Zaw-Thin M, Berenjeno IM, Parker VE, Chivite I, Milà-Guasch M, Pearce W, Solomon I, Angulo-Urarte A, Figueiredo AM, Dewhurst RE, Knox RG, Clark GR, Scudamore CL, Badar A, Kalber TL, Foster J, Stuckey DJ, David AL, Phillips WA, Lythgoe MF, Wilson V, Semple RK, Sebire NJ, Kinsler VA, Graupera M, Vanhaesebroeck B.
    Sci Transl Med; 2016 Mar 30; 8(332):332ra43. PubMed ID: 27030595
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