Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome View Full Text


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Article Info

DATE

1993-10

AUTHORS

R Weksberg, D R Shen, Y L Fei, Q L Song, J Squire

ABSTRACT

To study insulin-like growth factor 2 (IGF2) imprinting in BWS (Beckwith-Wiedemann syndrome, an overgrowth syndrome associated with Wilms and other embryonal tumours), we examined allele-specific expression using an Apal polymorphism in the 3' untranslated region of IGF2. Four of six BWS fibroblast strains demonstrated biallelic expression, as did the tongue tissue from one of these patients. Paternal heterodisomy was excluded for all BWS patients with biallelic expression, suggesting strongly that the BWS phenotype in some patients involves disruption of IGF2 imprinting. Constitutional loss of IGF2 imprinting in a subgroup of our BWS patients, and recent reports of loss of imprinting in sporadic Wilms tumour, further strengthens the view that IGF2 overexpression plays an important role in somatic overgrowth and the development of embryonal tumours. More... »

PAGES

143-150

References to SciGraph publications

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  • 1992-09. Physical linkage of two mammalian imprinted genes, H19 and insulin–like growth factor 2 in NATURE GENETICS
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  • 1993-04. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour in NATURE
  • 1991-06. Uniparental paternal disomy in a genetic cancer-predisposing syndrome in NATURE
  • 1993-04. Relaxation of imprinted genes in human cancer in NATURE
  • 1993-02. Genetic mosaicism in normal tissues of Wilms' tumour patients in NATURE GENETICS
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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng1093-143

    DOI

    http://dx.doi.org/10.1038/ng1093-143

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1051755253

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8252039


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    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng1093-143'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1093-143'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1093-143'


     

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