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Journal Abstract Search

353 related items for PubMed ID: 24334617

  • 1. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
    Brems H, Legius E.
    Keio J Med; 2013; 62(4):107-12. PubMed ID: 24334617
    [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. 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 12; 33(11):1538-46. PubMed ID: 22753041
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. 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]

  • 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. 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]

  • 9. 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 25; 7():212-20. PubMed ID: 27322474
    [Abstract] [Full Text] [Related]

  • 10. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
    Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN.
    J Med Genet; 2009 Jul 25; 46(7):425-30. PubMed ID: 19366998
    [Abstract] [Full Text] [Related]

  • 11. 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 25; 42(7):703-5. PubMed ID: 25981987
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. [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
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 16(6):448-59. PubMed ID: 24232412
    [Abstract] [Full Text] [Related]

  • 15. Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?
    Cassiman C, Casteels I, Jacob J, Plasschaert E, Brems H, Dubron K, Keer KV, Legius E.
    Clin Genet; 2017 Apr 01; 91(4):529-535. PubMed ID: 27716896
    [Abstract] [Full Text] [Related]

  • 16. SPRED 1 mutations in a neurofibromatosis clinic.
    Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Rong Mao.
    J Child Neurol; 2010 Oct 01; 25(10):1203-9. PubMed ID: 20179001
    [Abstract] [Full Text] [Related]

  • 17. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.
    Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson DA.
    Am J Med Genet A; 2010 Aug 01; 152A(8):1973-8. PubMed ID: 20602485
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 22; 185(1):223-227. PubMed ID: 33078527
    [Abstract] [Full Text] [Related]

  • 20. 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 22; 36(2):205-210. PubMed ID: 28150585
    [Abstract] [Full Text] [Related]

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