Jansen metaphyseal chondrodysplasia

Animal ex parathyroid, targets bone, endometrium, kidney GI tract Jansen metaphyseal chondrodysplasia from PTH-R mutation Animal ex parathyroid, targets bone, endometrium, kidney ... 

Theoretically, inverse agonists may be useful agents for the treatment of disease symptoms caused by constitutive receptor activity. Covalent modifications of the receptor protein, pathological increase in receptor or G protein densities, or inherited or somatic point mutations may lead to increased constitutive receptor activity. For example, certain inherited point mutations in rhodopsin have been shown to cause retinitis pigmentosa. The involvement of inherited, constitutively activating receptor point mutations has also been demonstrated in certain forms of hyperthyroidism, in male precocious puberty, and in Jansen-type metaphyseal chondrodysplasia [8]. Constitutive G protein activity may also be an important factor in autoimmune diseases [9]. 

Calvi LM, Svhipani E (2000) The PTH/ PTHrP receptor in Jansen s metaphyseal chondrodysplasia. J Endocrinol Invest 23 545-554... 

E. Schipani, K. Kruse, H. Juppner, A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia, Science 1995, 268, 98-100. 

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