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219 related items for PubMed ID: 27015986

  • 1. p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome.
    Duquesnes N, Callot C, Jeannot P, Daburon V, Nakayama KI, Manenti S, Davy A, Besson A.
    J Pathol; 2016 Jul; 239(3):250-61. PubMed ID: 27015986
    [Abstract] [Full Text] [Related]

  • 2. A Beckwith-Wiedemann-Associated CDKN1C Mutation Allows the Identification of a Novel Nuclear Localization Signal in Human p57Kip2.
    Stampone E, Bencivenga D, Barone C, Di Finizio M, Della Ragione F, Borriello A.
    Int J Mol Sci; 2021 Jul 11; 22(14):. PubMed ID: 34299047
    [Abstract] [Full Text] [Related]

  • 3. Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndrome.
    Grandjean V, Smith J, Schofield PN, Ferguson-Smith AC.
    Proc Natl Acad Sci U S A; 2000 May 09; 97(10):5279-84. PubMed ID: 10779549
    [Abstract] [Full Text] [Related]

  • 4. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
    Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S.
    Hum Mutat; 2015 Sep 09; 36(9):894-902. PubMed ID: 26077438
    [Abstract] [Full Text] [Related]

  • 5. Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.
    Gaston V, Le Bouc Y, Soupre V, Vazquez MP, Gicquel C.
    Horm Res; 2000 Sep 09; 54(1):1-5. PubMed ID: 11182628
    [Abstract] [Full Text] [Related]

  • 6. Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome.
    John RM, Ainscough JF, Barton SC, Surani MA.
    Hum Mol Genet; 2001 Jul 15; 10(15):1601-9. PubMed ID: 11468278
    [Abstract] [Full Text] [Related]

  • 7. CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
    Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P.
    Am J Med Genet A; 2010 Jun 15; 152A(6):1390-7. PubMed ID: 20503313
    [Abstract] [Full Text] [Related]

  • 8. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.
    Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER.
    J Med Genet; 1999 Jul 15; 36(7):518-23. PubMed ID: 10424811
    [Abstract] [Full Text] [Related]

  • 9. Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.
    Abadie C, Bernard F, Netchine I, Sanlaville D, Roque A, Rossignol S, Coupier I.
    Eur J Med Genet; 2010 Jul 15; 53(6):400-3. PubMed ID: 20826236
    [Abstract] [Full Text] [Related]

  • 10. Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
    Sparago A, Cerrato F, Pignata L, Cammarata-Scalisi F, Garavelli L, Piscopo C, Vancini A, Riccio A.
    Genes (Basel); 2021 May 09; 12(5):. PubMed ID: 34065128
    [Abstract] [Full Text] [Related]

  • 11. Beckwith-Wiedemann syndrome: multiple molecular mechanisms.
    Enklaar T, Zabel BU, Prawitt D.
    Expert Rev Mol Med; 2006 Jul 17; 8(17):1-19. PubMed ID: 16842655
    [Abstract] [Full Text] [Related]

  • 12. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 17; 58(7):402-9. PubMed ID: 23719190
    [Abstract] [Full Text] [Related]

  • 13. Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome.
    Diaz-Meyer N, Yang Y, Sait SN, Maher ER, Higgins MJ.
    J Med Genet; 2005 Aug 17; 42(8):648-55. PubMed ID: 16061564
    [Abstract] [Full Text] [Related]

  • 14. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.
    Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T.
    Nat Genet; 1996 Oct 17; 14(2):171-3. PubMed ID: 8841187
    [Abstract] [Full Text] [Related]

  • 15. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome.
    Caspary T, Cleary MA, Perlman EJ, Zhang P, Elledge SJ, Tilghman SM.
    Genes Dev; 1999 Dec 01; 13(23):3115-24. PubMed ID: 10601037
    [Abstract] [Full Text] [Related]

  • 16. Functional Versatility of the CDK Inhibitor p57Kip2.
    Creff J, Besson A.
    Front Cell Dev Biol; 2020 Dec 01; 8():584590. PubMed ID: 33117811
    [Abstract] [Full Text] [Related]

  • 17. ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.
    Arima T, Kamikihara T, Hayashida T, Kato K, Inoue T, Shirayoshi Y, Oshimura M, Soejima H, Mukai T, Wake N.
    Nucleic Acids Res; 2005 Dec 01; 33(8):2650-60. PubMed ID: 15888726
    [Abstract] [Full Text] [Related]

  • 18. Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.
    O'Keefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, Anyane-Yeboa K, Tycko B.
    Am J Hum Genet; 1997 Aug 01; 61(2):295-303. PubMed ID: 9311733
    [Abstract] [Full Text] [Related]

  • 19. CDKN1C mutations: two sides of the same coin.
    Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M.
    Trends Mol Med; 2014 Nov 01; 20(11):614-22. PubMed ID: 25262539
    [Abstract] [Full Text] [Related]

  • 20. The placenta in Beckwith-Wiedemann syndrome: genotype-phenotype associations, excessive extravillous trophoblast and placental mesenchymal dysplasia.
    Armes JE, McGown I, Williams M, Broomfield A, Gough K, Lehane F, Lourie R.
    Pathology; 2012 Oct 01; 44(6):519-27. PubMed ID: 22772341
    [Abstract] [Full Text] [Related]

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