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189 related items for PubMed ID: 10779549

  • 1. 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]

  • 2. 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]

  • 3. Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.
    Gaston V, Le Bouc Y, Soupre V, Vazquez MP, Gicquel C.
    Horm Res; 2000 Jul 15; 54(1):1-5. PubMed ID: 11182628
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes.
    Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, Efstratiadis A.
    Genes Dev; 1997 Dec 01; 11(23):3128-42. PubMed ID: 9389646
    [Abstract] [Full Text] [Related]

  • 7. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
    Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R.
    Genomics; 2001 Jun 15; 74(3):370-6. PubMed ID: 11414765
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 239(3):250-61. PubMed ID: 27015986
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster.
    Caspary T, Cleary MA, Baker CC, Guan XJ, Tilghman SM.
    Mol Cell Biol; 1998 Jun 11; 18(6):3466-74. PubMed ID: 9584186
    [Abstract] [Full Text] [Related]

  • 11. Analysis of CDKN1C in Beckwith Wiedemann syndrome.
    Algar E, Brickell S, Deeble G, Amor D, Smith P.
    Hum Mutat; 2000 Jun 11; 15(6):497-508. PubMed ID: 10862080
    [Abstract] [Full Text] [Related]

  • 12. 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 Jun 11; 33(8):2650-60. PubMed ID: 15888726
    [Abstract] [Full Text] [Related]

  • 13. 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 11; 36(7):518-23. PubMed ID: 10424811
    [Abstract] [Full Text] [Related]

  • 14. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting.
    Lee MP, DeBaun MR, Mitsuya K, Galonek HL, Brandenburg S, Oshimura M, Feinberg AP.
    Proc Natl Acad Sci U S A; 1999 Apr 27; 96(9):5203-8. PubMed ID: 10220444
    [Abstract] [Full Text] [Related]

  • 15. Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome.
    Reik W, Maher ER.
    Trends Genet; 1997 Aug 27; 13(8):330-4. PubMed ID: 9260520
    [Abstract] [Full Text] [Related]

  • 16. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER.
    J Med Genet; 2000 Dec 27; 37(12):921-6. PubMed ID: 11106355
    [Abstract] [Full Text] [Related]

  • 17. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome.
    Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP.
    Am J Hum Genet; 2004 Nov 27; 75(5):844-9. PubMed ID: 15372379
    [Abstract] [Full Text] [Related]

  • 18. Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome.
    Lee MP, DeBaun M, Randhawa G, Reichard BA, Elledge SJ, Feinberg AP.
    Am J Hum Genet; 1997 Aug 27; 61(2):304-9. PubMed ID: 9311734
    [Abstract] [Full Text] [Related]

  • 19. A novel human homologue of yeast nucleosome assembly protein, 65 kb centromeric to the p57KIP2 gene, is biallelically expressed in fetal and adult tissues.
    Hu RJ, Lee MP, Johnson LA, Feinberg AP.
    Hum Mol Genet; 1996 Nov 27; 5(11):1743-8. PubMed ID: 8923002
    [Abstract] [Full Text] [Related]

  • 20. Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.
    Robbins KM, Chen Z, Wells KD, Rivera RM.
    J Biomed Sci; 2012 Nov 15; 19(1):95. PubMed ID: 23153226
    [Abstract] [Full Text] [Related]

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