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Article

Personalised medicines for familial hypercalcemia and hyperparathyroidism.

Journal of molecular endocrinology - 9 May 2022

Josephs Tracy Maree, Zhang Frankie, Dinh Le Vi, Keller Andrew N, Conigrave Arthur D, Capuano Ben, Gregory Karen Joan, Leach Katie

Abstract excerpt

Loss-of-function calcium-sensing receptor (CASR) mutations cause mineral metabolism disorders, familial hypocalciuric hypercalcemia, or neonatal severe hyperparathyroidism and increase the risk of femoral fracture, chronic kidney disease, coronary heart disease, and other diseases. In severe cases, CaSR mutations are lethal. Off-label use of the CaSR-positive allosteric modulator (PAM), cinacalcet, corrects...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35318962
DOI: 10.1530/JME-21-0263

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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