Constitutively active mutations of G protein-coupled receptors: the case of the human luteinizing hormone and follicle-stimulating hormone receptors.

Abstract excerpt

Activating mutations of the luteinizing hormone receptor (LHR) and the follicle-stimulating hormone receptor (FSHR) have been known for several years. These activating mutations permanently stimulate, in the absence of their cognate ligand, the receptor signaling pathways. In the case of the LHR, the induced chronic stimulation causes sporadic and familial pseudoprecocious puberty, a phenotype observed only in...

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