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Previous Volume 335:736-738 September 5, 1996 Number 10 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Building on the insight gained from their initial identification of a mutation in the receptor for parathyroid hormone (PTH) and parathyroid hormone–related peptide (PTHrP) in a patient with Jansen's metaphyseal chondrodysplasia,¹ Schipani et al. provide further data on genetic abnormalities associated with the disorder in this issue of the Journal.² They report the same mutation in a mother and her daughter and a different mutation in another patient. Two other, less severely affected patients had no detectable mutations.

The mutations cause the PTH–PTHrP receptor to be persistently activated, resulting in a state of hypercalcemia and hypophosphatemia resembling that in patients . . . [Full Text of this Article]

References

This article has been cited by other articles:

• Kosugi, S., Mori, T., Shenker, A. (1998). An Anionic Residue at Position 564 Is Important for Maintaining the Inactive Conformation of the Human Lutropin/Choriogonadotropin Receptor. Mol. Pharmacol. 53: 894-901 [Abstract] [Full Text]  
• Hara, M., Liu, Y.-M., Zhen, L., Cohen, I. S., Yu, H., Danilo, P. Jr, Ogino, K., Bilezikian, J. P., Rosen, M. R. (1997). Positive Chronotropic Actions of Parathyroid Hormone and Parathyroid Hormone–Related Peptide Are Associated With Increases in the Current, If, and the Slope of the Pacemaker Potential. Circulation 96: 3704-3709 [Abstract] [Full Text]