Genotype-Epigenotype Interaction at the IGF2 DMR
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منابع مشابه
Genotype-Epigenotype Interaction at the IGF2 DMR
Paternally expressed Insulin-like Growth Factor II (IGF2) encodes a gene whose protein product functions as a potent growth mitogen. Overexpression of IGF2 has been implicated in a wide number of disorders and diseases. IGF2 is regulated in part by differential methylation of the two parentally derived alleles. The differentially methylated region (DMR) located upstream of the imprinted promote...
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Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth disorder involving the deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene cluster on chromosome 11p15.5. In sporadic BWS cases the majority of patients have epimutations in this region. Loss of imprinting of the IGF2 gene is frequently observed in BWS, as is reduced CDKN1C expression related to loss of mate...
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ژورنال
عنوان ژورنال: Genes
سال: 2015
ISSN: 2073-4425
DOI: 10.3390/genes6030777