Concepedia

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity

Anne-Sophie Lia-Baldini, Corinne Magdelaine, Angélique Nizou, Coraline Airault, Jean‐Pierre Salles, Pierre Moulin, Brigitte Delemer, Mina Aitouares, Benoît Funalot, Franck Sturtz,

European Journal of Endocrinology · 2012 · 20 citations · 26 references

DOI

Abstract

The asparagine at amino acid position 802 appears to be essential for the activity of the CASR protein and is implicated in the mechanism of CASR signaling.

References

26

Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid

Edward M. Brown, Gerardo Gamba, Daniela Riccardi et al. · Nature · 1993 · 2.6K citations

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Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Martin R. Pollak, Edward M. Brown, Yah‐Huei Wu Chou et al. · Cell · 1993 · 1K citations

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A Familial Syndrome of Hypocalcemia with Hypercalciuria Due to Mutations in the Calcium-Sensing Receptor

Simon H. S. Pearce, Catherine Williamson, Olga Kifor et al. · New England Journal of Medicine · 1996 · 613 citations · Full text

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

Mei Bai, Steven Quinn, Sunita Trivedi et al. · Journal of Biological Chemistry · 1996 · 426 citations · Full text

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Simon H. S. Pearce, Dorothy Trump, C Wooding et al. · Journal of Clinical Investigation · 1995 · 349 citations · Full text

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