Publication: A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects
A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects
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Küng, C. J., Daryadel, A., Fuente, R., Haykir, B., de Angelis, M. H., Hernando, N., Rubio-Aliaga, I., & Wagner, C. A. (2024). A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects. Pflügers Archiv : European Journal of Physiology, 476(5), 833–845. https://doi.org/10.1007/s00424-024-02927-y
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The Calcium-sensing receptor (CaSR) senses extracellular calcium, regulates parathyroid hormone (PTH) secretion, and has additional functions in various organs related to systemic and local calcium and mineral homeostasis. Familial hypocalciuric hypercalcemia type I (FHH1) is caused by heterozygous loss-of-function mutations in the CaSR gene, and is characterized by the combination of hypercalcemia, hypocalciuria, normal to elevated PTH, and facultatively hypermagnesemia and mild bone mineralization defects. To date, only heterozygous
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Küng, C. J., Daryadel, A., Fuente, R., Haykir, B., de Angelis, M. H., Hernando, N., Rubio-Aliaga, I., & Wagner, C. A. (2024). A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects. Pflügers Archiv : European Journal of Physiology, 476(5), 833–845. https://doi.org/10.1007/s00424-024-02927-y