Article
Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly.
The Journal of clinical investigation - 1 Mar 2001
Hayward B E, Barlier A, Korbonits M, Grossman A B, Jacquet P, Enjalbert A, Bonthron D T
Abstract excerpt
Approximately 40% of growth hormone-secreting pituitary adenomas have somatic mutations in the GNAS1 gene (the so-called gsp oncogene). These mutations at codon 201 or codon 227 constitutively activate the alpha subunit of the adenylate cyclase-stimulating G protein G(s). GNAS1 is subject to a complex pattern of genomic imprinting, its various promoters directing the production of maternally, paternally, and...
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