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Jansen and Blomstrand

Two Human Chondrodysplasias Caused by PTH/PTHrP Receptor Mutations

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The Genetics of Osteoporosis and Metabolic Bone Disease

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Abstract

Genetic linkage studies and positional cloning strategies have led with increasing frequency to the identification of molecular defects, often in unforeseen candidate genes or in novel genes with yet unknown biological relevance. Similar advances in understanding the physiological importance of a variety of proteins have been achieved through gene ablation techniques and through the targeted expression of genes using tissue-specific promoters. Since they often provided unanticipated results, these studies using gene manipulation techniques have proved to be of considerable importance for determining the biological role(s) of some known gene products, frequently redirecting the search for abnormalities in these proteins in human or other mammalian disorders. This is illustrated, as outlined in this chapter, by the identification of activating and inactivating PTH/ PTHrP receptor mutations as the cause of two rare genetic disorders in humans.

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Authors
  1. Harald Jüppner
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  2. Caroline Silve
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Editors and Affiliations

  1. Departments of Medicine and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA

    Michael J. Econs MD

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Jüppner, H., Silve, C. (2000). Jansen and Blomstrand. In: Econs, M.J. (eds) The Genetics of Osteoporosis and Metabolic Bone Disease. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-033-9_19

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  • DOI: https://doi.org/10.1007/978-1-59259-033-9_19

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-61737-142-4

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