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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2017

Open Access 01-12-2017 | Review

Diseases associated with calcium-sensing receptor

Authors: C. Vahe, K. Benomar, S. Espiard, L. Coppin, A. Jannin, M. F. Odou, M. C. Vantyghem

Published in: Orphanet Journal of Rare Diseases | Issue 1/2017

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Abstract

The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism). The A986S, R990G and Q1011E variants of the CASR gene are associated with higher serum calcium levels than in the general population, hypercalciuria being also associated with the R990G variant. The differential diagnosis consists in the hypocalciuric hypercalcaemia syndrome, types 2 (involving GNA11 gene) and 3 (involving AP2S1 gene); hyperparathyroidism; abnormalities of vitamin D metabolism, involving CYP24A1 and SLC34A1 genes; and reduced GFR. Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter’s syndrome. The differential diagnosis consists of the hypercalciuric hypocalcaemia syndrome type 2, involving GNA11 gene and other hypoparathyroidism aetiologies. The acquired diseases are related to the presence of anti-CaSR antibodies, which can cause hyper- or especially hypocalcemia disorders (for instance in APECED syndromes), determined by their functionality. Finally, the role of CaSR in digestive, respiratory, cardiovascular and neoplastic diseases is gradually coming to light, providing new therapeutic possibilities. Two types of CaSR modulators are known: CaSR agonists (or activators, still named calcimimetics) and calcilytic antagonists (or inhibitors of the CasR). CaSR agonists, such as cinacalcet, are indicated in secondary and primary hyperparathyroidism. Calcilytics have no efficacy in osteoporosis, but could be useful in the treatment of hypercalciuric hypocalcaemia syndromes.
Literature
1.
2.
Zhang C, Miller CL, Gorkhali R, Zou J, Huang K, Brown EM, Yang JJ. Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor. Front Physiol. 2016;7:441.PubMedPubMedCentral
3.
Thakker RV. The calcium-sensing receptor: and its involvement in parathyroid pathology. Ann Endocrinol (Paris). 2015;76:81–3.CrossRef
4.
Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Brixen K, Mosekilde L. Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods. Clin Endocrinol (Oxf). 2008;69:713–20.CrossRef
5.
Silverberg SJ, Clarke BL, Peacock M, Bandeira F, Boutroy S, Cusano NE, Dempster D, Lewiecki EM, Liu JM, Minisola S, Rejnmark L, Silva BC, Walker MD, Bilezikian JP. Current issues in the presentation of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. J Clin Endocrinol Metab. 2014;99:3580–94.CrossRefPubMed
6.
Masson E, Chen JM, Férec C. Overrepresentation of Rare CASR Coding Variants in a Sample of Young French Patients With Idiopathic Chronic Pancreatitis. Pancreas. 2015;44:996–8.CrossRefPubMed
7.
8.
Brachet C, Boros E, Tenoutasse S, Lissens W, Andry G, Martin P, Bergmann P. Heinrichs. Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager. Eur J Endocrinol. 2009;161:207–10.CrossRefPubMed
9.
Egan AM, Ryan J, Aziz MA, O’Dwyer TP, Byrne MM. Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene. J Bone Miner Metab. 2013;31:477–80.CrossRefPubMed
10.
Yabuta T, Miyauchi A, Inoue H, Yoshida H, Hirokawa M, Amino N. A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. Asian J Surg. 2009;32:118–22.CrossRefPubMed
11.
Eldeiry LS, Ruan DT, Brown EM, Gaglia JL, Garber JR. Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. Endocr Pract. 2012;18:412–7.CrossRefPubMed
12.
Burski K, Torjussen B, Paulsen AQ, Boman H, Bollerslev J. Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality? J Clin Endocrinol Metab. 2002;87:1015–6.CrossRefPubMed
13.
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. J Clin Endocrinol Metab. 2000;85:2042–7.PubMed
14.
Wang XM, Wu YW, Li ZJ, Zhao XH, Lv SM, Wang XH. Polymorphisms of CASR gene increase the risk of primary hyperparathyroidism. J Endocrinol Invest. 2016;39:617–25.CrossRefPubMed
15.
Han G, Wang O, Nie M, Zhu Y, Meng X, Hu Y, Liu H, Xing X. Clinical phenotypes of Chinese primary hyperparathyroidism patients are associated with the calcium-sensing receptor gene R990G polymorphism. Eur J Endocrinol. 2013;169:629–38.CrossRefPubMed
16.
Frank-Raue K, Leidig-Bruckner G, Haag C, Schulze E, Lorenz A, Schmitz-Winnenthal H, Raue F. Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism. Clin Endocrinol (Oxf). 2011;75:50–5.CrossRef
17.
18.
Assimos DG, The G. Allele of CaSR R990G Polymorphism Increases Susceptibility to Urolithiasis and Hypercalciuria: Evidences from a Comprehensive Meta-Analysis. J Urol. 2015;194:1014.
19.
Vezzoli G, Scillitani A, Corbetta S, Terranegra A, Dogliotti E, Guarnieri V, Arcidiacono T, Macrina L, Mingione A, Brasacchio C, Eller-Vainicher C, Cusi D, Spada A, Cole DE, Hendy GN, Spotti D, Soldati L. Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene. J Nephrol. 2015;28:67–72.CrossRefPubMed
20.
Oddsson A, Sulem P, Helgason H, Edvardsson VO, Thorleifsson G, Sveinbjörnsson G, Haraldsdottir E, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Holm H, Gudbjartsson DF, Thorsteinsdottir U, Indridason OS, Palsson R, Stefansson K. Common and rare variants associated with kidney stones and biochemical traits. Nat Commun. 2015;6:7975.CrossRefPubMedPubMedCentral
21.
Chikatsu N, Fukumoto S, Suzawa M, Tanaka Y, Takeuchi Y, Takeda S, Tamura Y, Matsumoto T, Fujita T. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. Clin Endocrinol (Oxf). 1999;50:537–43.CrossRef
22.
Lietman SA, Tenenbaum-Rakover Y, Jap TS, Yi-Chi W, De-Ming Y, Ding C, Kussiny N, Levine MA. A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. J Clin Endocrinol Metab. 2009;94:4372–9.CrossRefPubMedPubMedCentral
23.
Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath 3rd H, Thakker RV. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013;368:2476–86.CrossRefPubMedPubMedCentral
24.
Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O’Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van’t Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. Hum Mol Genet. 2015;24:5079–92.CrossRefPubMedPubMedCentral
25.
Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P. Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. J Clin Endocrinol Metab. 2016;101:2185–95.CrossRefPubMed
26.
O’Seaghdha CM, Wu H, Yang Q, Kapur K, Guessous I, Zuber AM, Köttgen A, Stoudmann C, Teumer A, Kutalik Z, Mangino M, Dehghan A, Zhang W, Eiriksdottir G, Li G, Tanaka T, Portas L, Lopez LM, Hayward C, Lohman K, Matsuda K, Padmanabhan S, Firsov D, Sorice R, Ulivi S, Brockhaus AC, Kleber ME, Mahajan A, Ernst FD, Gudnason V, et al. Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. PLoS Genet. 2013;9, e1003796.CrossRefPubMedPubMedCentral
27.
Majid H, Khan AH, Moatter T. R990G polymorphism of calcium sensing receptor gene is associated with high parathyroid hormone levels in subjects with vitamin D deficiency: a cross-sectional study. Biomed Res Int. 2015;2015:407159. doi:10.​1155/​2015/​407159.
28.
Díaz-Soto G, Romero E, Castrillón JL, Jauregui OI, de Luis Román D. Clinical Expression of Calcium Sensing Receptor Polymorphism (A986S) in Normocalcemic and Asymptomatic Hyperparathyroidism. Horm Metab Res. 2016;48:163–8.PubMed
29.
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK. GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. Am J Hum Genet. 2016;99:1034–44.CrossRefPubMed
30.
31.
Duan K, Gomez Hernandez K, Mete O. Clinicopathological correlates of hyperparathyroidism. J Clin Pathol. 2015;68:771–87.CrossRefPubMed
32.
Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV. Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Hum Mol Genet. 2012;21:2768–78.CrossRefPubMed
33.
Molin A, Baudoin R, Kaufmann M, Souberbielle JC, Ryckewaert A, Vantyghem MC, Eckart P, Bacchetta J, Deschenes G, Kesler-Roussey G, Coudray N, Richard N, Wraich M, Bonafiglia Q, Tiulpakov A, Jones G, Kottler ML. CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. J Clin Endocrinol Metab. 2015;100:E1343–52.CrossRefPubMed
34.
Loyer C, Leroy C, Molin A, Odou MF, Huglo D, Lion G, Ernst O, Hoffmann M, Porchet N, Carnaille B, Pattou F, Kottler ML, Vantyghem MC. Hyperparathyroidism complicating CYP 24A1 mutations. Ann Endocrinol (Paris). 2016;77:615–9.CrossRef
35.
Murphy H, Patrick J, Báez-Irizarry E, Lacassie Y, Gómez R, Vargas A, Barkemeyer B, Kanotra S, Zambrano RM. Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia. Eur J Med Genet. 2016;59:227–31.CrossRefPubMed
36.
Hannan FM, Nesbit MA, Christie PT, Lissens W, Van der Schueren B, Bex M, Bouillon R, Thakker RV. A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia. Clin Endocrinol (Oxf). 2010;73:715–22.CrossRef
37.
Obermannova B, Banghova K, Sumník Z, Dvorakova HM, Betka J, Fencl F, Kolouskova S, Cinek O, Lebl J. Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. Eur J Pediatr. 2009;168:569–73.CrossRefPubMed
38.
Glaudo M, Letz S, Quinkler M, Bogner U, Elbelt U, Strasburger CJ, Schnabel D, Lankes E, Scheel S, Feldkamp J, Haag C, Schulze E, Frank-Raue K, Raue F, Mayr B, Schöfl C. Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. Eur J Endocrinol. 2016;175:421–31.CrossRefPubMed
39.
Mayr B, Schnabel D, Dörr HG, Schöfl C. Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts. Eur J Endocrinol. 2016;174:R189–208.CrossRefPubMed
40.
Gagliardi L, Burt MG, Feng J, Poplawski NK, Scott HS. Autosomal dominant hypocalcaemia due to a novel CASR mutation: Clinical and genetic implications. Clin Endocrinol (Oxf). 2016;85:495–7.CrossRef
41.
Tenhola S, Voutilainen R, Reyes M, Toiviainen-Salo S, Jüppner H, Mäkitie O. Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation. Eur J Endocrinol. 2016;175:211–8.CrossRefPubMedPubMedCentral
42.
Obermannova B, Sumnik Z, Dusatkova P, Cinek O, Grant M, Lebl J, Hendy GN. Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study. Eur J Endocrinol. 2016;174:K1–K11.CrossRefPubMed
43.
Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T. Association between activating mutations of calcium-sensing receptor and Bartter’s syndrome. Lancet. 2002;360:692–4.CrossRefPubMed
44.
Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaître X, Paillard M, Planelles G, Déchaux M, Miller RT, Antignac C. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol. 2002;13:2259–66.CrossRefPubMed
45.
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. 2014;99:E363–8.CrossRefPubMed
46.
Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV. Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). J Bone Miner Res. 2016;31:1207–14.CrossRefPubMedPubMedCentral
47.
Dong B, Endo I, Ohnishi Y, Kondo T, Hasegawa T, Amizuka N, Kiyonari H, Shioi G, Abe M, Fukumoto S, Matsumoto T. Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH). J Bone Miner Res. 2015;30(11):1980–93.CrossRefPubMed
48.
Hannan FM, Walls GV, Babinsky VN, Nesbit MA, Kallay E, Hough TA, Fraser WD, Cox RD, Hu J, Spiegel AM, Thakker RV. The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1). Endocrinology. 2015;156:3114–21.CrossRefPubMedPubMedCentral
49.
Weetman AP. Auto-immune hypoparathyroidism. Ann Endocrinol (Paris). 2015;76:89–91.CrossRef
50.
Kemp EH, Habibullah M, Kluger N, Ranki A, Sandhu HK, Krohn KJ, Weetman AP. Prevalence and clinical associations of calcium-sensing receptor and NALP5 autoantibodies in Finnish APECED patients. J Clin Endocrinol Metab. 2014;99:1064–71.CrossRefPubMed
51.
Mahtab S, Vaish U, Saha S, Singh A, Goswami R, Rani R. Presence of Auto-reactive, MHC class-I restricted, Calcium Sensing Receptor (CaSR) specific CD8+ T cells in Idiopathic Hypoparathyroidism. J Clin Endocrinol Metab. 2016:jc20163131. [Epub ahead of print]
52.
Zhang H, Kovacs-Nolan J, Kodera T, Eto Y, Mine Y. γ-Glutamyl cysteine and γ-glutamyl valine inhibit TNF-α signaling in intestinal epithelial cells and reduce inflammation in a mouse model of colitis via allosteric activation of the calcium-sensingreceptor. Biochim Biophys Acta. 2015;1852:792–804.CrossRefPubMed
53.
54.
Lee JW, Park JW, Kwon OK, Lee HJ, Jeong HG, Kim JH, Oh SR, Ahn KS. NPS2143 Inhibits MUC5AC and Proinflammatory Mediators in Cigarette Smoke Extract (CSE) Stimulated Human Airway Epithelial Cells. Inflammation. 2016;19 [Epub ahead of print].
55.
Tennakoon S, Aggarwal A, Kállay E. The calcium-sensing receptor and the hallmarks of cancer. Biochim Biophys Acta. 1863;2016:1398–407.
56.
Ahearn TU, Tchrakian N, Wilson KM, Lis R, Nuttall E, Sesso HD, Loda M, Giovannucci E, Mucci LA, Finn S, Shui IM. Calcium-Sensing Receptor Tumor Expression and Lethal Prostate Cancer Progression. J Clin Endocrinol Metab. 2016;101:2520–7.CrossRefPubMed
57.
Rocha G, Villalobos E, Fuentes C, Villarroel P, Reyes M, Díaz X, Mattar P, Cifuentes M. Preadipocyte proliferation is elevated by calcium sensing receptor activation. Mol Cell Endocrinol. 2015;412:251–6.CrossRefPubMed
58.
Jakobsen NF, Laugesen E, Rolighed L, Nissen PH, Poulsen PL, Pedersen EB, Mosekilde L, Rejnmark L. The cardiovascular system in Familial Hypocalciuric Hypercalcemia (FHH): a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR). Eur J Endocrinol. 2016;175:299–309.CrossRef
59.
Qu YY, Hui J, Wang LM, Tang N, Zhong H, Liu YM, Li Z, Feng Q, He F. Reduced Expression of the Extracellular Calcium-Sensing Receptor (CaSR) Is Associated with Activation of the Renin-Angiotensin System (RAS) to Promote Vascular Remodeling in the Pathogenesis of Essential Hypertension. PLoS One. 2016;11, e0157456.CrossRefPubMedPubMedCentral
60.
Mary A, Hénaut L, Boudot C, Six I, Brazier M, Massy ZA, Drüeke TB, Kamel S, Mentaverri R. Calcitriol prevents in vitro vascular smooth muscle cell mineralization by regulating calcium-sensing receptor expression. Endocrinology. 2015;156:1965–74.CrossRefPubMed
61.
Oh YS, Seo EH, Lee YS, Cho SC, Jung HS, Park SC, Jun HS. Increase of Calcium Sensing Receptor Expression Is Related to Compensatory Insulin Secretion during Aging in Mice. PLoS One. 2016;11:e0159689.CrossRefPubMedPubMedCentral
62.
Ranieri M, Tamma G, Di Mise A, Russo A, Centrone M, Svelto M, Calamita G, Valenti G. Negative feedback from CaSR signaling to aquaporin-2 sensitizes vasopressin to extracellular Ca2. J Cell Sci. 2015;128:2350–60.CrossRefPubMed
63.
Bai S, Mao M, Tian L, Yu Y, Zeng J, Ouyang K, Yu L, Li L, Wang D, Deng X, Wei C, Luo Y. Calcium sensing receptor mediated the excessive generation of β-amyloid peptide induced by hypoxia in vivo and in vitro. Biochem Biophys Res Commun. 2015;459:568–73.CrossRefPubMed
64.
Amino Y, Nakazawa M, Kaneko M, Miyaki T, Miyamura N, Maruyama Y, Eto Y. Structure-CaSR-Activity Relation of Kokumi γ-Glutamyl Peptides. Chem Pharm Bull (Tokyo). 2016;64:1181–9.CrossRef
65.
Babinsky VN, Hannan FM, Gorvin CM, Howles SA, Nesbit MA, Rust N, Hanyaloglu AC, Hu J, Spiegel AM, Thakker RV. Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders. J Biol Chem. 2016;291:10876–85.CrossRefPubMedPubMedCentral
66.
Liu L, Wang C, Sun D, Jiang S, Li H, Zhang W, Zhao Y, Xi Y, Shi S, Lu F, Tian Y, Xu C, Wang L. Calhex2 3 1 Ameliorates Cardiac Hypertrophy by Inhibiting Cellular Autophagy in Vivo and in Vitro. Cell Physiol Biochem. 2015;36:1597–612.CrossRefPubMed
67.
Martin KJ, Bell G, Pickthorn K, Huang S, Vick A, Hodsman P, Peacock M. Velcalcetide (AMG 416), a novel peptide agonist of the calcium-sensing receptor, reduces serum parathyroid hormone and FGF23 levels in healthy male subjects. Nephrol Dial Transplant. 2014;29:385–92.CrossRefPubMed
68.
Hénaut L, Boudot C, Massy ZA, Lopez-Fernandez I, Dupont S, Mary A, Drüeke TB, Kamel S, Brazier M, Mentaverri R. Calcimimetics increase CaSR expression and reduce mineralization in vascular smooth muscle cells: mechanisms of action. Cardiovasc Res. 2014;101:256–65.CrossRefPubMed
Metadata
Title
Diseases associated with calcium-sensing receptor
Authors
C. Vahe
K. Benomar
S. Espiard
L. Coppin
A. Jannin
M. F. Odou
M. C. Vantyghem
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2017
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-017-0570-z

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