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Journal Abstract Search

224 related items for PubMed ID: 24469042

  • 1. 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]

  • 2. 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]

  • 3. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
    Brems H, Legius E.
    Keio J Med; 2013 Feb 12; 62(4):107-12. PubMed ID: 24334617
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  • 4. 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
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  • 5. 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 06; 7():212-20. PubMed ID: 27322474
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  • 6. 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
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  • 7. 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]

  • 8. 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 18; 185(1):223-227. PubMed ID: 33078527
    [Abstract] [Full Text] [Related]

  • 9. Family with Legius syndrome (neurofibromatosis type 1-like syndrome).
    Sakai N, Maeda T, Kawakami H, Uchiyama M, Harada K, Tsuboi R, Mitsuhashi Y.
    J Dermatol; 2015 Jul 18; 42(7):703-5. PubMed ID: 25981987
    [Abstract] [Full Text] [Related]

  • 10. 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 18; 16(6):448-59. PubMed ID: 24232412
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  • 13. 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 18; 33(11):1538-46. PubMed ID: 22753041
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  • 14. 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
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  • 16. Epilepsy in Legius syndrome: Coincidence or causation?
    Medina Lemus A, Boelman C, Myers KA.
    Am J Med Genet A; 2024 Jun 25; 194(6):e63547. PubMed ID: 38268057
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  • 17. The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.
    Sekelska M, Briatkova L, Olcak T, Bolcekova A, Ilencikova D, Kadasi L, Zatkova A.
    Gen Physiol Biophys; 2017 Apr 25; 36(2):205-210. PubMed ID: 28150585
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  • 18. [A novel neurocutaneous syndrome: Legius syndrome. A case report].
    Cemeli-Cano M, Peña-Segura JL, Fernando-Martínez R, Izquierdo-Álvarez S, Monge-Galindo L, López-Pisón J.
    Rev Neurol; 2014 Sep 01; 59(5):209-12. PubMed ID: 25156025
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  • 19. Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1).
    Chiu YE, Dugan S, Basel D, Siegel DH.
    Pediatr Dermatol; 2013 Sep 01; 30(3):379-82. PubMed ID: 23016555
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