Article
Somatic mutations in the VI transmembrane segment of the thyrotropin receptor constitutively activate cAMP signalling in thyroid hyperfunctioning adenomas.
Oncogene - 21 Sept 1995
Porcellini A, Ciullo I, Pannain S, Fenzi G, Avvedimento E
Abstract excerpt
We have discovered two somatic mutations in the VI transmembrane domain of the thyrotropin receptor gene in thyroid hyperfunctioning adenomas. The mutated amino acid residues are phenylalanine 631 (to cysteine) and threonine 632 (to isoleucine). Cloning and expression of the mutated versions of the receptor in COS cells increased significantly the basal and the TSH-induced cAMP levels compared to the wild type...
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