메뉴 건너뛰기




Volumn 5, Issue 2, 1993, Pages 143-150

Disruption of insulin like growth factor 2 imprinting in Becith Wiedemann syndrome

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN B;

EID: 0027420362     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1093-143     Document Type: Article
Times cited : (375)

References (48)
  • 1
    • 0026872675 scopus 로고
    • Beckwith-Wiedemann syndrome, tumorigenesis and imprinting
    • Junien, C. Beckwith-Wiedemann syndrome, tumorigenesis and imprinting. Curr. Op. genet. Develop. 2, 431-438 (1992).
    • (1992) Curr. Op. genet. Develop , vol.2 , pp. 431-438
    • Junien, C.1
  • 2
    • 84966147464 scopus 로고
    • Wiedemann-Beckwith syndrome: Presentation of clinical and cytogenetic data on 22 new cases and review of the literature
    • Pettenati, M. J. et al. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum. Genet. 124, 140-151 (1986).
    • (1986) Hum. Genet , vol.124 , pp. 140-151
    • Pettenati, M.J.1
  • 3
    • 34250134720 scopus 로고
    • Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome
    • Wiedemann, H. R. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur. J. Pediatr. 14, 129 (1983).
    • (1983) Eur. J. Pediatr , vol.14 , pp. 129
    • Wiedemann, H.R.1
  • 4
    • 0020511170 scopus 로고
    • Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome
    • Waziri, M., Patil, S. R., Hanson, J. W. & Batrley. J. A. Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J. Paed. 102, 873-876 (1983).
    • (1983) J. Paed , vol.102 , pp. 873-876
    • Waziri, M.1    Patil, S.R.2    Hanson, J.W.3    Batrley, J.A.4
  • 5
    • 0021256768 scopus 로고
    • Trisomy 11p15 and Beckwith-Wiedemann syndrome: A report of two cases
    • Turleau, C. et al. Trisomy 11p15 and Beckwith-Wiedemann syndrome: A report of two cases. Hum. Genet. 67, 219-221 (1984).
    • (1984) Hum. Genet , vol.67 , pp. 219-221
    • Turleau, C.1
  • 6
    • 0023011534 scopus 로고
    • An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13-pter: Correlation of symptoms between 11 p trisomy and Beckwith-Wiedemann syndrome Jpn
    • Okano, Y. et al. An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13-pter: correlation of symptoms between 11 p trisomy and Beckwith-Wiedemann syndrome Jpn. J. hum. Genet 31, 365-372 (1986).
    • (1986) J. hum. Genet , vol.31 , pp. 365-372
    • Okano, Y.1
  • 7
    • 0021400199 scopus 로고
    • Chromosome 11 and Beckwith-Wiedemann syndrome
    • Pueschel, S. M. & Padre-Mendoza, T. Chromosome 11 and Beckwith-Wiedemann syndrome. J. Paed. 104, 484-485 (1984).
    • (1984) J. Paed , vol.104 , pp. 484-485
    • Pueschel, S.M.1    Padre-Mendoza, T.2
  • 8
    • 0022470737 scopus 로고
    • The Wiedemann-Beckwith syndrome: Pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity
    • Niikawa, N. et al. The Wiedemann-Beckwith syndrome: Pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. Am. J. med. Genet. 24, 41-45 (1986).
    • (1986) Am. J. med. Genet , vol.24 , pp. 41-45
    • Niikawa, N.1
  • 9
    • 0026559276 scopus 로고
    • Beckwith-Wiedemann syndrome: A demonstration of the mechanisms responsible for the excess of transmitting females
    • Moutou, C., Junien, C., Henry, I., Bonaiti-Pellie, C. Beckwith-Wiedemann syndrome: A demonstration of the mechanisms responsible for the excess of transmitting females. J. med. Genet. 29, 217-220 (1992).
    • (1992) J. med. Genet , vol.29 , pp. 217-220
    • Moutou, C.1    Junien, C.2    Henry, I.3    Bonaiti-Pellie, C.4
  • 10
    • 0019410039 scopus 로고
    • Wiedemann-Beckwith Syndrome: Autosomal-Dominant Inheritance in a Family
    • Best, L. G. & Hoekstra, R. E. Wiedemann-Beckwith Syndrome: Autosomal-Dominant Inheritance in a Family. Am. J. hum. Genet. 9, 291-299 (1981).
    • (1981) Am. J. hum. Genet , vol.9 , pp. 291-299
    • Best, L.G.1    Hoekstra, R.E.2
  • 11
    • 0025738681 scopus 로고
    • Uniparental paternal disomy in a genetic cancer-predisposing syndrome
    • Henry, I. et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351, 665-667 (1991).
    • (1991) Nature , vol.351 , pp. 665-667
    • Henry, I.1
  • 12
    • 0027793754 scopus 로고
    • Somatic mosaicism for partial isodisomy in Weidemann-Beckwith syndrome: A post-fertilization event
    • Henry, I. et al. Somatic mosaicism for partial isodisomy in Weidemann-Beckwith syndrome: A post-fertilization event. Eur. J. hum. Genet. 1, 19-29 (1993).
    • (1993) Eur. J. hum. Genet , vol.1 , pp. 19-29
    • Henry, I.1
  • 13
    • 0026773169 scopus 로고
    • Molecular analysis of patients with Weidemann-Beckwith syndrome II. Paternally derived disomies of chromosome 11
    • Nystrom, A., Cheetham, J. E., Engstrom, W. & Schofield, P. N. Molecular analysis of patients with Weidemann-Beckwith syndrome II. Paternally derived disomies of chromosome 11. Eur. J. Pediatr. 151, 511-514 (1992).
    • (1992) Eur. J. Pediatr , vol.151 , pp. 511-514
    • Nystrom, A.1    Cheetham, J.E.2    Engstrom, W.3    Schofield, P.N.4
  • 14
    • 0026363005 scopus 로고
    • Loss of heterozygosity in non-tumoral tissue in two children with Beckwith-Wiedemann syndrome
    • Schneid, H., Vazquet, M. P., Seurin, D., Ie Bouc, Y. Loss of heterozygosity in non-tumoral tissue in two children with Beckwith-Wiedemann syndrome. Growth Regulation 1, 168-170 (1991).
    • (1991) Growth Regulation , vol.1 , pp. 168-170
    • Schneid, H.1    Vazquet, M.P.2    Seurin, D.3    Ie Bouc, Y.4
  • 15
    • 0024518392 scopus 로고
    • Genetic Linkage of Beckwith-Weidemann Syndrome to 11p15
    • Ping, A. J. et al. Genetic Linkage of Beckwith-Weidemann Syndrome to 11p15. Am. J. hum. Genet. 44, 720-723 (1989).
    • (1989) Am. J. hum. Genet , vol.44 , pp. 720-723
    • Ping, A.J.1
  • 16
    • 0024517062 scopus 로고
    • Familial Wiedemann-Beckwith syndrome and a second Wilms tumour locus both map to 11 p15. 5
    • Koufos, A. et al. Familial Wiedemann-Beckwith syndrome and a second Wilms tumour locus both map to 11 p15. 5. Am. J. hum. Genet. 44, 711-719 (1989).
    • (1989) Am. J. hum. Genet , vol.44 , pp. 711-719
    • Koufos, A.1
  • 17
    • 0025633055 scopus 로고
    • Molecular characterization of Beckwith-Weidemann Syndrome (BWS) patients with partial duplication of 11 p excludes the gene MYOD1 from the BWS region
    • Weksberg, R. et al. Molecular characterization of Beckwith-Weidemann Syndrome (BWS) patients with partial duplication of 11 p excludes the gene MYOD1 from the BWS region. Genomics 8, 693-698 (1990).
    • (1990) Genomics , vol.8 , pp. 693-698
    • Weksberg, R.1
  • 18
    • 0024561675 scopus 로고
    • Molecular definition of the 11p15. 5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma
    • Henry, I. et al. Molecular definition of the 11p15. 5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma. Hum. Genet. 81, 273-277 (1989).
    • (1989) Hum. Genet , vol.81 , pp. 273-277
    • Henry, I.1
  • 19
    • 84966152494 scopus 로고    scopus 로고
    • Characterization of breakpoints associated with the Beckwith-Wiedemann syndrome and aniridia. Evidence for involvement of genomic imprinting in the Beckwith-Wiedemann syndrome
    • (in the press)
    • Mannens, M. et al. Characterization of breakpoints associated with the Beckwith-Wiedemann syndrome and aniridia. Evidence for involvement of genomic imprinting in the Beckwith-Wiedemann syndrome. Eur. J. hum. Genet. (in the press).
    • Eur. J. hum. Genet
    • Mannens, M.1
  • 20
    • 0027289089 scopus 로고
    • Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
    • Weksberg, R. et al. Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum. molec. Genet. 2, 549-556 (1993).
    • (1993) Hum. molec. Genet , vol.2 , pp. 549-556
    • Weksberg, R.1
  • 21
    • 0025700681 scopus 로고
    • Insulin-like growth factors I and II
    • Humbel, R. Insulin-like growth factors I and II. Euro. J. Biochem. 190, 445-462 (1990).
    • (1990) Euro. J. Biochem , vol.190 , pp. 445-462
    • Humbel, R.1
  • 22
    • 0023227182 scopus 로고
    • Tissue-specific and developmentally regulated transcription of the insulin-like growth factor 2 gene
    • Gray, A. et al. Tissue-specific and developmentally regulated transcription of the insulin-like growth factor 2 gene. DNA 6, 283-295 (1987).
    • (1987) DNA , vol.6 , pp. 283-295
    • Gray, A.1
  • 23
    • 0022392802 scopus 로고
    • Isolation of the human insulin-like growth factor genes: Insulin like growth factor II and insulin genes are contiguous
    • Bell, G. I., Gerhard, D. S., Fong, N. M., Sanchez-Pescador, R. & Rall, L. B. Isolation of the human insulin-like growth factor genes: insulin like growth factor II and insulin genes are contiguous. Proc. natn. Acad. Sci. U. S. A. 82, 6450-6454 (1985).
    • (1985) Proc. natn. Acad. Sci. U.S.A , vol.82 , pp. 6450-6454
    • Bell, G.I.1    Gerhard, D.S.2    Fong, N.M.3    Sanchez-Pescador, R.4    Rall, L.B.5
  • 24
    • 0022386613 scopus 로고
    • Expression of insulin-like growth factor-ll transcripts in Wilms' tumour
    • Reeve, A., Eccles, M., Wilkins, R., Bell, G. & Millow, L. Expression of insulin-like growth factor-ll transcripts in Wilms' tumour. Nature 317, 258-260 (1985).
    • (1985) Nature , vol.317 , pp. 258-260
    • Reeve, A.1    Eccles, M.2    Wilkins, R.3    Bell, G.4    Millow, L.5
  • 25
    • 0022414038 scopus 로고
    • Insulin-like growth factor-ll gene expression in Wilms' tumour and embryonic tissues
    • Scott, J. et al. Insulin-like growth factor-ll gene expression in Wilms' tumour and embryonic tissues. Nature 317, 260-262 (1985).
    • (1985) Nature , vol.317 , pp. 260-262
    • Scott, J.1
  • 26
    • 0025967857 scopus 로고
    • Parental Imprinting of the Mouse Insulin-like Growth Factor II Gene
    • DeChiara, T. M., Robertson, E. J. & Efstratiadias, A. Parental Imprinting of the Mouse Insulin-like Growth Factor II Gene. Cell 64, 849-859 (1991).
    • (1991) Cell , vol.64 , pp. 849-859
    • DeChiara, T.M.1    Robertson, E.J.2    Efstratiadias, A.3
  • 29
    • 0026428611 scopus 로고
    • Embryological and molecular investigations of parental imprinting on mouse chromosome 7
    • Ferguson-Smith, A. C., Cattanach, B. M., Barton, S. C., Beechey, C. V., Surani, M. A. Embryological and molecular investigations of parental imprinting on mouse chromosome 7. Nature 351, 667-670 (1991).
    • (1991) Nature , vol.351 , pp. 667-670
    • Ferguson-Smith, A.C.1    Cattanach, B.M.2    Barton, S.C.3    Beechey, C.V.4    Surani, M.A.5
  • 30
    • 0027285258 scopus 로고
    • Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour
    • Ogawa, O. et al. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature 362, 749-751 (1993).
    • (1993) Nature , vol.362 , pp. 749-751
    • Ogawa, O.1
  • 31
    • 0027172683 scopus 로고
    • Relaxation of imprinted genes in human cancer
    • Rainier, S. et al. Relaxation of imprinted genes in human cancer. Nature 362, 747-749 (1993).
    • (1993) Nature , vol.362 , pp. 747-749
    • Rainier, S.1
  • 33
    • 0026334340 scopus 로고
    • Polymerase chain reaction (PCR) for detection of Apa1 polymorphism at the insulin like growth factor II gene (IGF2)
    • Tadokoro, K., Fugii, H., Inoue, T. & Yamada, M. Polymerase chain reaction (PCR) for detection of Apa1 polymorphism at the insulin like growth factor II gene (IGF2). Nuc. Acids Res. 19, 6967 (1991).
    • (1991) Nuc. Acids Res , vol.19 , pp. 6967
    • Tadokoro, K.1    Fugii, H.2    Inoue, T.3    Yamada, M.4
  • 34
    • 0026781474 scopus 로고
    • Parental imprinting: Potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II (Igf2) gene
    • Sasaki, H. et al. Parental imprinting: potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II (Igf2) gene. Genes Dev. 6, 1843-1856 (1992).
    • (1992) Genes Dev , vol.6 , pp. 1843-1856
    • Sasaki, H.1
  • 35
    • 0026849544 scopus 로고
    • Monoallelic expression of the human H19 gene
    • Zhang, Y. & Tycko, B. Monoallelic expression of the human H19 gene. Nature Genet. 1, 40-44 (1992).
    • (1992) Nature Genet , vol.1 , pp. 40-44
    • Zhang, Y.1    Tycko, B.2
  • 36
    • 0024212964 scopus 로고
    • Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours
    • Mannens, M. et al. Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours. Hum. Genet 81, 41-48 (1988).
    • (1988) Hum. Genet , vol.81 , pp. 41-48
    • Mannens, M.1
  • 38
    • 0026685962 scopus 로고
    • Loss of heterozygosity mapping in Wilms tumour indicates the involvement of three distinct regions and a limited role for non-disjunction or mitotic recombination
    • Coppes, M. J. et al. Loss of heterozygosity mapping in Wilms tumour indicates the involvement of three distinct regions and a limited role for non-disjunction or mitotic recombination. Genes Chrom. Can. 5, 326-334 (1992).
    • (1992) Genes Chrom. Can , vol.5 , pp. 326-334
    • Coppes, M.J.1
  • 39
    • 0026513356 scopus 로고
    • Recurrent Wiedemann-Beckwith-syndrome with inversion of chromosome (11)(p11. 2; p15. 5)
    • Norman, A. M., Read, A. P., Clayton-Smith, J., Andrews, T., Donnai, D. Recurrent Wiedemann-Beckwith-syndrome with inversion of chromosome (11)(p11. 2; p15. 5). Am. J. med. Genet 42, 638-641 (1992).
    • (1992) Am. J. med. Genet , vol.42 , pp. 638-641
    • Norman, A.M.1    Read, A.P.2    Clayton-Smith, J.3    Andrews, T.4    Donnai, D.5
  • 40
    • 0023020262 scopus 로고
    • Myc Oncogene: Its Role in Transformation and Differentiation
    • Cole, M., myc Oncogene: Its Role in Transformation and Differentiation. Ann. Rev. Genet. 20, 361-384 (1988).
    • (1988) Ann. Rev. Genet , vol.20 , pp. 361-384
    • Cole, M.1
  • 41
    • 0027465535 scopus 로고
    • Genetic mosaicism in normal tissues of Wilms' tumour patients
    • Chao, L-Y. et al. Genetic mosaicism in normal tissues of Wilms' tumour patients. Nature Genet. 3, 127-131 (1993).
    • (1993) Nature Genet , vol.3 , pp. 127-131
    • Chao, L.-Y.1
  • 42
    • 0026922595 scopus 로고
    • Physical linkage of two mammalian imprinted genes, H19 and insulin-like growth factor 2
    • Zemel, S., Bartolomei, M. S., Tilghman, S. M. Physical linkage of two mammalian imprinted genes, H19 and insulin-like growth factor 2. Nature Genet. 2, 61-65 (1992).
    • (1992) Nature Genet , vol.2 , pp. 61-65
    • Zemel, S.1    Bartolomei, M.S.2    Tilghman, S.M.3
  • 43
    • 0027172684 scopus 로고
    • Parental-origin-specific epigenetic modification of the mouse H19 gene
    • Ferguson-Smith, A., Sasaki, H., Cattanach, B. & Surani, A. Parental-origin-specific epigenetic modification of the mouse H19 gene. Nature 362, 751-755 (1993).
    • (1993) Nature , vol.362 , pp. 751-755
    • Ferguson-Smith, A.1    Sasaki, H.2    Cattanach, B.3    Surani, A.4
  • 44
    • 0027400888 scopus 로고
    • Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal
    • Stoger, R. et al. Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 73, 61-71 (1993).
    • (1993) Cell , vol.73 , pp. 61-71
    • Stoger, R.1
  • 45
    • 0023277545 scopus 로고
    • Single step method of RNA isolation by acid quanidinium thiocyanate phenol chloroform extraction
    • Chomczynski, P., Sacchi, N. Single step method of RNA isolation by acid quanidinium thiocyanate phenol chloroform extraction. Analyt. Biochem. 162, 156-159 (1987).
    • (1987) Analyt. Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 46
    • 0024212067 scopus 로고
    • Rapid Production of full-length cDNAs from rare transcripts: Amplification using a single gene-specific oligonucleottide primer
    • Frohman, M. A., Dush, M. K. & Martin, G. R. Rapid Production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleottide primer. Proc. natn. Acad. Sci. U. S. A. 85, 8998 (1987).
    • (1987) Proc. natn. Acad. Sci. U.S.A , vol.85 , pp. 8998
    • Frohman, M.A.1    Dush, M.K.2    Martin, G.R.3
  • 47
    • 0025744618 scopus 로고
    • Pstl polymorphism within the 3' untranslated region of the insulin gene detectable by the polymerase chain reaction
    • Hoban, P. R. & Kelsey, A. M. Pstl polymorphism within the 3' untranslated region of the insulin gene detectable by the polymerase chain reaction. Nucl. Acids Res. 19, 4576 (1991).
    • (1991) Nucl. Acids Res , vol.19 , pp. 4576
    • Hoban, P.R.1    Kelsey, A.M.2
  • 48
    • 0025939939 scopus 로고
    • DNA Typing and Genetic Mapping with Trimeric and Tetrameric Tandem Repeats
    • Edwards, A., Civitello, A., Hammond, H. A. & Caskey, T. A. DNA Typing and Genetic Mapping with Trimeric and Tetrameric Tandem Repeats. Am. J. hum. Genet. 49, 746-756 (1991).
    • (1991) Am. J. hum. Genet , vol.49 , pp. 746-756
    • Edwards, A.1    Civitello, A.2    Hammond, H.A.3    Caskey, T.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.