메뉴 건너뛰기




Volumn 15, Issue 12, 2007, Pages 1205-1210

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C;

EID: 36349015367     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201912     Document Type: Article
Times cited : (35)

References (18)
  • 2
    • 0031940675 scopus 로고    scopus 로고
    • Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry
    • DeBaun MR, Tucker MA: Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry. J Pediatr 1998; 132: 398-400.
    • (1998) J Pediatr , vol.132 , pp. 398-400
    • DeBaun, M.R.1    Tucker, M.A.2
  • 3
    • 2642519400 scopus 로고    scopus 로고
    • Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer
    • Soejima H, Nakagawachi T, Zhao W et al: Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer. Oncogene 2004; 23: 4380-4388.
    • (2004) Oncogene , vol.23 , pp. 4380-4388
    • Soejima, H.1    Nakagawachi, T.2    Zhao, W.3
  • 4
    • 33747201884 scopus 로고    scopus 로고
    • Genetic and epigenetic alterations on the short arm of chromosome 11 are involved in a majority of sporadic Wilms' tumours
    • Satoh Y, Nakadate H, Nakagawachi T et al: Genetic and epigenetic alterations on the short arm of chromosome 11 are involved in a majority of sporadic Wilms' tumours. Br J Cancer 2006; 95: 541-547.
    • (2006) Br J Cancer , vol.95 , pp. 541-547
    • Satoh, Y.1    Nakadate, H.2    Nakagawachi, T.3
  • 5
    • 0034657153 scopus 로고    scopus 로고
    • Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-Beckwith syndrome
    • Itoh N, Becroft DM, Reeve AE, Morison IM: Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-Beckwith syndrome. Am J Med Genet 2000; 92: 111-116.
    • (2000) Am J Med Genet , vol.92 , pp. 111-116
    • Itoh, N.1    Becroft, D.M.2    Reeve, A.E.3    Morison, I.M.4
  • 6
    • 16044364516 scopus 로고    scopus 로고
    • An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome
    • Hatada I, Ohashi H, Fukushima. Y et al: An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet 1996; 14 171-173.
    • (1996) Nat Genet , vol.14 , pp. 171-173
    • Hatada, I.1    Ohashi, H.2    Fukushima, Y.3
  • 7
    • 0028316620 scopus 로고
    • Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia
    • Mannens M, Hoovers JM, Redeker E et al: Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet 1994; 2 3-23.
    • (1994) Eur J Hum Genet , vol.2 , pp. 3-23
    • Mannens, M.1    Hoovers, J.M.2    Redeker, E.3
  • 8
    • 0031284743 scopus 로고    scopus 로고
    • New p57KIP2 mutations in Beckwith-Wiedemann syndrome
    • Hatada J, Nabetani A, Morisaki H et al: New p57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum Genet 1997; 100: 681-683.
    • (1997) Hum Genet , vol.100 , pp. 681-683
    • Hatada, J.1    Nabetani, A.2    Morisaki, H.3
  • 9
    • 4444365791 scopus 로고    scopus 로고
    • Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
    • Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A: Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet 2004; 36: 958-960.
    • (2004) Nat Genet , vol.36 , pp. 958-960
    • Sparago, A.1    Cerrato, F.2    Vernucci, M.3    Ferrero, G.B.4    Silengo, M.C.5    Riccio, A.6
  • 10
    • 20144363310 scopus 로고    scopus 로고
    • Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor
    • Prawitt D, Enklaar T, Gartner-Rupprecht B et al: Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Proc Natl Acad Sci USA 2005; 102: 4085-4090.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 4085-4090
    • Prawitt, D.1    Enklaar, T.2    Gartner-Rupprecht, B.3
  • 11
    • 33847306554 scopus 로고    scopus 로고
    • Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
    • Sparago A, Russo S, Cerrato F et al: Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour. Hum Mol Genet 2007; 16: 254-264.
    • (2007) Hum Mol Genet , vol.16 , pp. 254-264
    • Sparago, A.1    Russo, S.2    Cerrato, F.3
  • 12
    • 18244369516 scopus 로고    scopus 로고
    • Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
    • Weksberg R, Nishikawa J, Caluseriu O et al: Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Hum Mol Genet 2001; 10: 2989-3000.
    • (2001) Hum Mol Genet , vol.10 , pp. 2989-3000
    • Weksberg, R.1    Nishikawa, J.2    Caluseriu, O.3
  • 13
    • 21644461973 scopus 로고    scopus 로고
    • Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis
    • Rump P, Zeegers MP, van Essen AJ: Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis. Am J Med Genet A 2005; 136: 95-104.
    • (2005) Am J Med Genet A , vol.136 , pp. 95-104
    • Rump, P.1    Zeegers, M.P.2    van Essen, A.J.3
  • 14
    • 36348981130 scopus 로고
    • Malformation syndromes and childhood tumors
    • Shimizu K, Misugi K eds, Tokyo: Bunkodo
    • Kobayashi Y. Malformation syndromes and childhood tumors; in Shimizu K, Misugi K (eds): Shouni Geka Byourigaku (Pediatric Surgical Pathology) Tokyo: Bunkodo, 1995, pp 12-18.
    • (1995) Shouni Geka Byourigaku (Pediatric Surgical Pathology) , pp. 12-18
    • Kobayashi, Y.1
  • 15
    • 10744230832 scopus 로고    scopus 로고
    • Epigenetic differences between Wilms' tumours in white and east-Asian children
    • Fukuzawa R, Breslow NE, Morison IM et al: Epigenetic differences between Wilms' tumours in white and east-Asian children. Lancet 2004; 363: 446-451.
    • (2004) Lancet , vol.363 , pp. 446-451
    • Fukuzawa, R.1    Breslow, N.E.2    Morison, I.M.3
  • 16
    • 0034967806 scopus 로고    scopus 로고
    • Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome
    • Gaston V, Le Bouc Y, Soupre V et al: Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2001; 9: 409-418.
    • (2001) Eur J Hum Genet , vol.9 , pp. 409-418
    • Gaston, V.1    Le Bouc, Y.2    Soupre, V.3
  • 17
    • 0036182963 scopus 로고    scopus 로고
    • Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
    • DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg, AP: Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002; 70: 604-611.
    • (2002) Am J Hum Genet , vol.70 , pp. 604-611
    • DeBaun, M.R.1    Niemitz, E.L.2    McNeil, D.E.3    Brandenburg, S.A.4    Lee, M.P.5    Feinberg, A.P.6
  • 18
    • 9744222638 scopus 로고    scopus 로고
    • Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)
    • Bliek J, Gicquel C, Maas S, Gaston V, Le Bouc Y, Mannens M: Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS). J Pediatr 2004; 145: 796-799.
    • (2004) J Pediatr , vol.145 , pp. 796-799
    • Bliek, J.1    Gicquel, C.2    Maas, S.3    Gaston, V.4    Le Bouc, Y.5    Mannens, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.