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467 related items for PubMed ID: 26635368

  • 1. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
    Hirata Y, Brems H, Suzuki M, Kanamori M, Okada M, Morita R, Llano-Rivas I, Ose T, Messiaen L, Legius E, Yoshimura A.
    J Biol Chem; 2016 Feb 12; 291(7):3124-34. PubMed ID: 26635368
    [Abstract] [Full Text] [Related]

  • 2. Pathogenic Mutations Associated with Legius Syndrome Modify the Spred1 Surface and Are Involved in Direct Binding to the Ras Inactivator Neurofibromin.
    Führer S, Tollinger M, Dunzendorfer-Matt T.
    J Mol Biol; 2019 Sep 06; 431(19):3889-3899. PubMed ID: 31401120
    [Abstract] [Full Text] [Related]

  • 3. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
    Brems H, Legius E.
    Keio J Med; 2013 Sep 06; 62(4):107-12. PubMed ID: 24334617
    [Abstract] [Full Text] [Related]

  • 4. Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR.
    Yan W, Markegard E, Dharmaiah S, Urisman A, Drew M, Esposito D, Scheffzek K, Nissley DV, McCormick F, Simanshu DK.
    Cell Rep; 2020 Jul 21; 32(3):107909. PubMed ID: 32697994
    [Abstract] [Full Text] [Related]

  • 5. A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
    Stowe IB, Mercado EL, Stowe TR, Bell EL, Oses-Prieto JA, Hernández H, Burlingame AL, McCormick F.
    Genes Dev; 2012 Jul 01; 26(13):1421-6. PubMed ID: 22751498
    [Abstract] [Full Text] [Related]

  • 6. The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation.
    Dunzendorfer-Matt T, Mercado EL, Maly K, McCormick F, Scheffzek K.
    Proc Natl Acad Sci U S A; 2016 Jul 05; 113(27):7497-502. PubMed ID: 27313208
    [Abstract] [Full Text] [Related]

  • 7. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.
    Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P.
    Oncogene; 2015 Jan 29; 34(5):631-8. PubMed ID: 24469042
    [Abstract] [Full Text] [Related]

  • 8. NMR resonance assignments of the EVH1 domain of neurofibromin's recruitment factor Spred1.
    Führer S, Ahammer L, Ausserbichler A, Scheffzek K, Dunzendorfer-Matt T, Tollinger M.
    Biomol NMR Assign; 2017 Oct 29; 11(2):305-308. PubMed ID: 28831766
    [Abstract] [Full Text] [Related]

  • 9. Review and update of SPRED1 mutations causing Legius syndrome.
    Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L.
    Hum Mutat; 2012 Nov 29; 33(11):1538-46. PubMed ID: 22753041
    [Abstract] [Full Text] [Related]

  • 10. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
    Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.
    JAMA; 2009 Nov 18; 302(19):2111-8. PubMed ID: 19920235
    [Abstract] [Full Text] [Related]

  • 11. SPRED1 Interferes with K-ras but Not H-ras Membrane Anchorage and Signaling.
    Siljamäki E, Abankwa D.
    Mol Cell Biol; 2016 Oct 15; 36(20):2612-25. PubMed ID: 27503857
    [Abstract] [Full Text] [Related]

  • 12. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
    Thomas L, Richards M, Mort M, Dunlop E, Cooper DN, Upadhyaya M.
    Hum Mutat; 2012 Dec 15; 33(12):1687-96. PubMed ID: 22807134
    [Abstract] [Full Text] [Related]

  • 13. Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
    Denayer E, Legius E.
    Acta Derm Venereol; 2020 Mar 25; 100(7):adv00093. PubMed ID: 32147744
    [Abstract] [Full Text] [Related]

  • 14. SPRED proteins provide a NF-ty link to Ras suppression.
    McClatchey AI, Cichowski K.
    Genes Dev; 2012 Jul 15; 26(14):1515-9. PubMed ID: 22802525
    [Abstract] [Full Text] [Related]

  • 15. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
    Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W, Northern UK NF1 Research Network, Huson SM.
    EBioMedicine; 2016 May 15; 7():212-20. PubMed ID: 27322474
    [Abstract] [Full Text] [Related]

  • 16. One NF1 Mutation may Conceal Another.
    Pacot L, Burin des Roziers C, Laurendeau I, Briand-Suleau A, Coustier A, Mayard T, Tlemsani C, Faivre L, Thomas Q, Rodriguez D, Blesson S, Dollfus H, Muller YG, Parfait B, Vidaud M, Gilbert-Dussardier B, Yardin C, Dauriat B, Derancourt C, Vidaud D, Pasmant E.
    Genes (Basel); 2019 Aug 22; 10(9):. PubMed ID: 31443423
    [Abstract] [Full Text] [Related]

  • 17. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
    Klose A, Ahmadian MR, Schuelke M, Scheffzek K, Hoffmeyer S, Gewies A, Schmitz F, Kaufmann D, Peters H, Wittinghofer A, Nürnberg P.
    Hum Mol Genet; 1998 Aug 22; 7(8):1261-8. PubMed ID: 9668168
    [Abstract] [Full Text] [Related]

  • 18. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
    Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L.
    Genet Med; 2014 Jun 22; 16(6):448-59. PubMed ID: 24232412
    [Abstract] [Full Text] [Related]

  • 19. Neurofibromin GTPase-activating protein-related domains restore normal growth in Nf1-/- cells.
    Hiatt KK, Ingram DA, Zhang Y, Bollag G, Clapp DW.
    J Biol Chem; 2001 Mar 09; 276(10):7240-5. PubMed ID: 11080503
    [Abstract] [Full Text] [Related]

  • 20. Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
    Pabst L, Carroll J, Lo W, Truxal KV.
    Am J Med Genet A; 2021 Jan 09; 185(1):223-227. PubMed ID: 33078527
    [Abstract] [Full Text] [Related]

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