Activating mutations of the TSH receptor gene cause thyroid diseases.

Abstract excerpt

Spontaneous mutations have been identified in the gene encoding the thyrotropin receptor, the effect of which is to activate the receptor in the absence of hormone. When they occur within thyrocytes (somatic mutations) activating mutations cause clonal expansion of the cells into a hyperfunctional thyroid adenoma (toxic nodule). Our results demonstrate that this pathophysiologic mechanism accounts for the...

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