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Accordingly, CaSR plays a pivotal role in calcium homeostasis, and the <jats:italic>CaSR<\/jats:italic> gene defects are related to diseases characterized by serum calcium level changes. Activating mutations of the <jats:italic>CaSR<\/jats:italic> gene cause enhanced sensitivity to extracellular calcium concentration resulting in autosomal dominant hypocalcemia or Bartter-syndrome type V. Inactivating <jats:italic>CaSR<\/jats:italic> gene mutations lead to resistance to extracellular calcium. In these cases, familial hypocalciuric hypercalcaemia (FHH1) or neonatal severe hyperparathyroidism (NSHPT) can develop. FHH2 and FHH3 are associated with mutations of genes of partner proteins of calcium signal transduction. The common polymorphisms of the CaSR gene have been reported not to affect the calcium homeostasis itself; however, they may be associated with the increased risk of malignancies.<\/jats:p>","DOI":"10.1007\/s12020-021-02620-5","type":"journal-article","created":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T15:12:06Z","timestamp":1612278726000},"page":"611-617","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Rare diseases caused by abnormal calcium sensing and signalling"],"prefix":"10.1007","volume":"71","author":[{"given":"Judit","family":"T\u0151ke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e1bor","family":"Czirj\u00e1k","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e9ter","family":"Enyedi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8701-408X","authenticated-orcid":false,"given":"Mikl\u00f3s","family":"T\u00f3th","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,2,2]]},"reference":[{"key":"2620_CR1","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/366575a0","volume":"366","author":"EM Brown","year":"1993","unstructured":"E.M. 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