CASR Gene

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1		Vicky Zhou	+ 823 word(s)	823	2020-12-15 07:46:46

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Zhou, V. CASR Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5073 (accessed on 22 September 2026).

Zhou V. CASR Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5073. Accessed September 22, 2026.

Zhou, Vicky. "CASR Gene" Encyclopedia, https://encyclopedia.pub/entry/5073 (accessed September 22, 2026).

Zhou, V. (2020, December 24). CASR Gene. In Encyclopedia. https://encyclopedia.pub/entry/5073

Zhou, Vicky. "CASR Gene." Encyclopedia. Web. 24 December, 2020.

CASR Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/casr

calcium sensing receptor

genes

References

Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S,Hellman P, Brown EM, Dahl N, Rastad J. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. JClin Endocrinol Metab. 2000 May;85(5):2042-7.
Hannan FM, Nesbit MA, Christie PT, Lissens W, Van der Schueren B, Bex M,Bouillon R, Thakker RV. A homozygous inactivating calcium-sensing receptormutation, Pro339Thr, is associated with isolated primary hyperparathyroidism:correlation between location of mutations and severity of hypercalcaemia. ClinEndocrinol (Oxf). 2010 Dec;73(6):715-22. doi: 10.1111/j.1365-2265.2010.03870.x.
Hendy GN, Guarnieri V, Canaff L. Calcium-sensing receptor and associateddiseases. Prog Mol Biol Transl Sci. 2009;89:31-95. doi:10.1016/S1877-1173(09)89003-0.
Kinoshita Y, Hori M, Taguchi M, Watanabe S, Fukumoto S. Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2014Feb;99(2):E363-8. doi: 10.1210/jc.2013-3430.
Ranieri M, Tamma G, Di Mise A, Vezzoli G, Soldati L, Svelto M, Valenti G.Excessive signal transduction of gain-of-function variants of the calcium-sensingreceptor (CaSR) are associated with increased ER to cytosol calcium gradient.PLoS One. 2013 Nov 14;8(11):e79113. doi: 10.1371/journal.pone.0079113.
Raue F, Pichl J, Dörr HG, Schnabel D, Heidemann P, Hammersen G, Jaursch-HanckeC, Santen R, Schöfl C, Wabitsch M, Haag C, Schulze E, Frank-Raue K. Activatingmutations in the calcium-sensing receptor: genetic and clinical spectrum in 25patients with autosomal dominant hypocalcaemia - a German survey. Clin Endocrinol(Oxf). 2011 Dec;75(6):760-5. doi: 10.1111/j.1365-2265.2011.04142.x.
Thim SB, Birkebaek NH, Nissen PH, Høst C. Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literaturereview. Acta Paediatr. 2014 Nov;103(11):1117-25. doi: 10.1111/apa.12743.
Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P,Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB,Cardinal J. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 2004 Mar;41(3):155-60.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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