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Journal Abstract Search

315 related items for PubMed ID: 28190454

  • 1. Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
    Couto JA, Huang AY, Konczyk DJ, Goss JA, Fishman SJ, Mulliken JB, Warman ML, Greene AK.
    Am J Hum Genet; 2017 Mar 02; 100(3):546-554. PubMed ID: 28190454
    [Abstract] [Full Text] [Related]

  • 2. Endothelial MAP2K1 mutations in arteriovenous malformation activate the RAS/MAPK pathway.
    Smits PJ, Konczyk DJ, Sudduth CL, Goss JA, Greene AK.
    Biochem Biophys Res Commun; 2020 Aug 20; 529(2):450-454. PubMed ID: 32703450
    [Abstract] [Full Text] [Related]

  • 3. Arteriovenous Malformation MAP2K1 Mutation Causes Local Cartilage Overgrowth by a Cell-Non Autonomous Mechanism.
    Konczyk DJ, Goss JA, Smits PJ, Sudduth CL, Al-Ibraheemi A, Greene AK.
    Sci Rep; 2020 Mar 10; 10(1):4428. PubMed ID: 32157142
    [Abstract] [Full Text] [Related]

  • 4. Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.
    Goss JA, Konczyk DJ, Smits PJ, Kozakewich HPW, Alomari AI, Al-Ibraheemi A, Taghinia AH, Dickie BH, Adams DM, Fishman SJ, Mulliken JB, Warman ML, Greene AK.
    Angiogenesis; 2019 Nov 10; 22(4):547-552. PubMed ID: 31486960
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  • 5. Arteriovenous malformation Map2k1 mutation affects vasculogenesis.
    Sudduth CL, Smits PJ, Vivero MP, Cheng YS, Ad M, Konczyk DJ, Bischoff J, Warman ML, Greene AK.
    Sci Rep; 2023 Jul 08; 13(1):11074. PubMed ID: 37422456
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  • 6. Arteriovenous malformation associated with a HRAS mutation.
    Konczyk DJ, Goss JA, Smits PJ, Huang AY, Al-Ibraheemi A, Sudduth CL, Warman ML, Greene AK.
    Hum Genet; 2019 Dec 08; 138(11-12):1419-1421. PubMed ID: 31637524
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  • 7. Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice.
    Smits PJ, Sudduth CL, Konczyk DJ, Cheng YS, Vivero MP, Kozakewich HPW, Warman ML, Greene AK.
    Angiogenesis; 2023 Feb 08; 26(1):97-105. PubMed ID: 35972708
    [Abstract] [Full Text] [Related]

  • 8. Somatic mutations in intracranial arteriovenous malformations.
    Goss JA, Huang AY, Smith E, Konczyk DJ, Smits PJ, Sudduth CL, Stapleton C, Patel A, Alexandrescu S, Warman ML, Greene AK.
    PLoS One; 2019 Feb 08; 14(12):e0226852. PubMed ID: 31891627
    [Abstract] [Full Text] [Related]

  • 9. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
    Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M.
    Circulation; 2017 Sep 12; 136(11):1037-1048. PubMed ID: 28687708
    [Abstract] [Full Text] [Related]

  • 10. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
    Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P, Le J, Wallenstein MB, Milla C, Teng JM, Bernstein JA, Stevenson DA.
    Am J Med Genet A; 2016 Jun 12; 170(6):1450-4. PubMed ID: 26969842
    [Abstract] [Full Text] [Related]

  • 11. Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.
    Sudduth CL, McGuire AM, Smits PJ, Konczyk DJ, Al-Ibraheemi A, Fishman SJ, Greene AK.
    Clin Genet; 2020 Dec 12; 98(6):595-597. PubMed ID: 32799314
    [Abstract] [Full Text] [Related]

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  • 13. A somatic MAP3K3 mutation is associated with verrucous venous malformation.
    Couto JA, Vivero MP, Kozakewich HP, Taghinia AH, Mulliken JB, Warman ML, Greene AK.
    Am J Hum Genet; 2015 Mar 05; 96(3):480-6. PubMed ID: 25728774
    [Abstract] [Full Text] [Related]

  • 14. Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
    Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.
    J Clin Invest; 2018 Apr 02; 128(4):1496-1508. PubMed ID: 29461977
    [Abstract] [Full Text] [Related]

  • 15. Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.
    Chen J, Che L, Xu C, Zhao S, Yang J, Li M, Li G, Shen Y.
    Gene; 2020 Apr 05; 733():144369. PubMed ID: 31972311
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  • 19. Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.
    Pierpont EI, Semrud-Clikeman M, Pierpont ME.
    Am J Med Genet A; 2017 Feb 05; 173(2):452-459. PubMed ID: 27862862
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