Constitutively active mutations of G protein-coupled receptors: the case of the human luteinizing hormone and follicle-stimulating hormone receptors
V Nordhoff, J Gromoll, M Simoni - Archives of Medical Research, 1999 - Elsevier
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 males. The absence of a
female phenotype is probably due to the requirement for FSH in the induction of LHR …
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 males. The absence of a
female phenotype is probably due to the requirement for FSH in the induction of LHR …