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Cited by 422

The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.

Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+-sensing Receptor

Open access
Bai, Mei, Quinn, Steven, Trivedi, Sunita, Kifor, Olga, Pearce, Simon H.S., Pollak, Martin R., Krapcho, Karen, Hebert, Steven C., Brown, Edward M.·1996·Journal of Biological Chemistry

Abstract

Nearly 30 mutations have been identified to date in the coding region of the extracellular calcium-sensing receptor (CaR) that are associated with inherited human hypo- and hypercalcemic disorders. To understand the mechanisms by which the mutations alter the function of the receptor may help to discern the structure-function relationships in terms of ligand-binding and G protein coupling. In the present studies, we transiently expressed eight known CaR mutations in HEK293 cells. The effects of the mutations on extracellular calcium- and gadolinium-elicited increases in the cytosolic calcium concentration were then examined. Seven inactivating mutations, which cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, show a reduced functional activity of the receptor because they may 1) reduce its affinity for agonists; 2) prevent conversion of the receptor from a putatively immature, high mannose form into the fully glycosylated and biologically active form of the CaR, in addition to lowering its affinity for agonists; or 3) fail to couple the receptor to and/or activate its respective G protein(s). Conversely, one activating mutation, which causes a form of autosomal dominant hypocalcemia, appears to increase the affinity of the receptor for its agonists.

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Crossref · 10.1074/jbc.271.32.19537

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Metadata

Authors
Bai, M., Quinn, S., Trivedi, S., Kifor, O., Pearce, S. H. S., Pollak, M. R., Krapcho, K., Hebert, S. C., & Brown, E. M.
Venue
Journal of Biological Chemistry
Publisher
Elsevier BV
Published
1996-08
Volume
271
Issue
32
Pages
19537-19545
ISSN
0021-9258 (ISSN-L)
OpenAlex
W1972065681
Cited by
422
References
16
FWCI
24.82
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+-sensing Receptor. https://app.cochat.ai/papers/10.1074/jbc.271.32.19537
The paper
Bai, M., Quinn, S., Trivedi, S., Kifor, O., Pearce, S. H. S., Pollak, M. R., Krapcho, K., Hebert, S. C., & Brown, E. M. (1996). Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+-sensing Receptor. Journal of Biological Chemistry. https://doi.org/10.1074/jbc.271.32.19537

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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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