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A Constitutively Active Mutant PTH-PTHrP Receptor in Jansen-Type Metaphyseal Chondrodysplasia
Abstract
A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related peptide (PTH-PTHrP) receptor was identified in a patient with Jansen-type metaphyseal chondrodysplasia, which changes a strictly conserved histidine residue at position 223 in the receptor's first intracellular loop to arginine. Constitutive, ligand-independent adenosine 3′,5′-monophosphate accumulation was observed in COS-7 cells expressing the mutant PTH-PTHrP receptor but not in cells expressing the wild-type receptor. This finding explains the severe ligand-independent hypercalcemia and hypophosphatemia, and most likely the abnormal formation of endochondral bone, in this rare form of short-limbed dwarfism.
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Cited by
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Karsenty, G., Kronenberg, H. M., & Settembre, C. (2009) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.042308.113308 · Cited by 667
Isoforms of Mammalian Adenylyl Cyclase: Multiplicities of Signaling
Sunahara, R. K. (2002) · Molecular Interventions · doi:10.1124/mi.2.3.168 · Cited by 406
Calvi, L. M., Sims, N. A., Hunzelman, J. L., Knight, M. C., Giovannetti, A., Saxton, J. M., Kronenberg, H. M., Baron, R., & Schipani, E. (2001) · Journal of Clinical Investigation · doi:10.1172/jci11296 · Cited by 388
Self-citationMutant G-protein-coupled receptors as a cause of human diseases
Schöneberg, T., Schulz, A., Biebermann, H., Hermsdorf, T., Römpler, H., & Sangkuhl, K. (2004) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2004.08.008 · Cited by 337
Zheng, Q., Zhou, G., Morello, R., Chen, Y., Garcia-Rojas, X., & Lee, B. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200211089 · Cited by 331
Metadata
- Authors
- Schipani, E., Kruse, K., & Jüppner, H.
- Venue
- Science
- Published
- 1995-04-07
- Volume
- 268
- Issue
- 5207
- Pages
- 98-100
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2062207135
- Cited by
- 685
- References
- 0
- FWCI
- 44.20
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: A Constitutively Active Mutant PTH-PTHrP Receptor in Jansen-Type Metaphyseal Chondrodysplasia. https://app.cochat.ai/papers/10.1126/science.7701349
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- Schipani, E., Kruse, K., & Jüppner, H. (1995). A Constitutively Active Mutant PTH-PTHrP Receptor in Jansen-Type Metaphyseal Chondrodysplasia. Science. https://doi.org/10.1126/science.7701349
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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