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Items: 1 to 20 of 158

1.

Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.

Grant MP, Stepanchick A, Breitwieser GE.

Mol Endocrinol. 2012 Dec;26(12):2081-91. doi: 10.1210/me.2012-1232. Epub 2012 Oct 17.

2.

Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.

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.

Eur J Endocrinol. 2016 Nov;175(5):421-31. doi: 10.1530/EJE-16-0223.

3.

The pathophysiology of primary hyperparathyroidism.

Brown EM.

J Bone Miner Res. 2002 Nov;17 Suppl 2:N24-9. Review.

PMID:
12412774
4.

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).

Rodrigues LS, Cáu AC, Bussmann LZ, Bastida G, Brunetto OH, Corrêa PH, Martin RM.

Arq Bras Endocrinol Metabol. 2011 Feb;55(1):67-71.

5.

Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.

Pidasheva S, Grant M, Canaff L, Ercan O, Kumar U, Hendy GN.

Hum Mol Genet. 2006 Jul 15;15(14):2200-9. Epub 2006 Jun 1.

PMID:
16740594
6.

Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.

Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN.

Hum Mol Genet. 2005 Jun 15;14(12):1679-90. Epub 2005 May 6.

PMID:
15879434
8.

Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.

D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DE, Hendy GN.

J Clin Endocrinol Metab. 2002 Mar;87(3):1309-18.

PMID:
11889203
9.

Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.

Stratta P, Merlotti G, Musetti C, Quaglia M, Pagani A, Izzo C, Radin E, Airoldi A, Baorda F, Palladino T, Leone MP, Guarnieri V.

Nephrol Dial Transplant. 2014 Oct;29(10):1902-9. doi: 10.1093/ndt/gfu065. Epub 2014 Aug 7.

PMID:
25104082
10.

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

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.

Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14.

PMID:
22422767
11.

A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.

Sfar S, Bzéouich AA, Kerkeni E, Bouaziz S, Najjar MF, Chouchane L, Monastiri K.

Mol Biol Rep. 2012 Mar;39(3):2395-400. doi: 10.1007/s11033-011-0990-0. Epub 2011 Jun 12.

PMID:
21667241
12.

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.

Diaz-Thomas A, Cannon J, Iyer P, Al-Maawali A, Fazalullah M, Diamond F, Mueller OT, Root AW, Alyaarubi S.

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):851-6. doi: 10.1515/jpem-2013-0343.

PMID:
24854525
13.

Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors.

Rus R, Haag C, Bumke-Vogt C, Bähr V, Mayr B, Möhlig M, Schulze E, Frank-Raue K, Raue F, Schöfl C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4797-803. doi: 10.1210/jc.2008-1076. Epub 2008 Sep 16.

PMID:
18796518
14.

An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.

Chikatsu N, Fukumoto S, Suzawa M, Tanaka Y, Takeuchi Y, Takeda S, Tamura Y, Matsumoto T, Fujita T.

Clin Endocrinol (Oxf). 1999 Apr;50(4):537-43.

PMID:
10468915
15.

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.

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.

J Clin Endocrinol Metab. 2016 May;101(5):2185-95. doi: 10.1210/jc.2015-3442. Epub 2016 Mar 10.

PMID:
26963950
16.

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1200-6. doi: 10.1002/jbmr.2778. Epub 2016 Feb 6.

17.

Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude.

Grant MP, Stepanchick A, Cavanaugh A, Breitwieser GE.

Sci Signal. 2011 Nov 22;4(200):ra78. doi: 10.1126/scisignal.2002208.

18.

Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Rejnmark L, Brixen K, Mosekilde L.

Eur J Endocrinol. 2008 Dec;159(6):719-27. doi: 10.1530/EJE-08-0440. Epub 2008 Sep 11.

19.

Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.

Kim ES, Kim SY, Lee JY, Han JH, Sohn TS, Son HS, Moon SD.

J Bone Miner Metab. 2016 Nov;34(6):662-667. Epub 2015 Sep 19.

PMID:
26386835
20.

Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor.

Lu JY, Yang Y, Gnacadja G, Christopoulos A, Reagan JD.

J Pharmacol Exp Ther. 2009 Dec;331(3):775-86. doi: 10.1124/jpet.109.159228. Epub 2009 Sep 16.

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