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Results: 1 to 20 of 134

1.

Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.

Nakamura A, Hotsubo T, Kobayashi K, Mochizuki H, Ishizu K, Tajima T.

J Clin Endocrinol Metab. 2013 Oct;98(10):E1692-701. doi: 10.1210/jc.2013-1974. Epub 2013 Aug 21.

PMID:
23966241
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia.

Cetani F, Lemmi M, Cervia D, Borsari S, Cianferotti L, Pardi E, Ambrogini E, Banti C, Brown EM, Bagnoli P, Pinchera A, Marcocci C.

Eur J Endocrinol. 2009 Mar;160(3):481-9. doi: 10.1530/EJE-08-0798. Epub 2008 Dec 10.

PMID:
19073830
[PubMed - indexed for MEDLINE]
Free Article
4.

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Lia-Baldini AS, Magdelaine C, Nizou A, Airault C, Salles JP, Moulin P, Delemer B, Aitouares M, Funalot B, Sturtz F, Lienhardt-Roussie A.

Eur J Endocrinol. 2013 Jan 17;168(2):K27-34. doi: 10.1530/EJE-12-0714. Print 2013 Feb.

PMID:
23169696
[PubMed - indexed for MEDLINE]
Free Article
5.

Impact of clinically relevant mutations on the pharmacoregulation and signaling bias of the calcium-sensing receptor by positive and negative allosteric modulators.

Leach K, Wen A, Cook AE, Sexton PM, Conigrave AD, Christopoulos A.

Endocrinology. 2013 Mar;154(3):1105-16. doi: 10.1210/en.2012-1887. Epub 2013 Jan 31.

PMID:
23372019
[PubMed - indexed for MEDLINE]
6.

A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

Lietman SA, Tenenbaum-Rakover Y, Jap TS, Yi-Chi W, De-Ming Y, Ding C, Kussiny N, Levine MA.

J Clin Endocrinol Metab. 2009 Nov;94(11):4372-9. doi: 10.1210/jc.2008-2484. Epub 2009 Sep 29.

PMID:
19789209
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
8.

Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN.

J Clin Invest. 1997 Apr 15;99(8):1917-25.

PMID:
9109436
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
23077345
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].

Watanabe S, Fukumoto S.

Nihon Rinsho. 2002 Feb;60(2):325-30. Review. Japanese.

PMID:
11857921
[PubMed - indexed for MEDLINE]
12.

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.

Hannan FM, Thakker RV.

Best Pract Res Clin Endocrinol Metab. 2013 Jun;27(3):359-71. doi: 10.1016/j.beem.2013.04.007. Epub 2013 May 18.

PMID:
23856265
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
21468522
[PubMed - indexed for MEDLINE]
Free Article
14.

A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia.

Falchetti A, Gozzini A, Terranegra A, Soldati L, Vezzoli G, Leoncini G, Giusti F, Franceschelli F, Masi L, Tanini A, Cavalli L, Brandi ML.

Eur J Endocrinol. 2012 May;166(5):933-40. doi: 10.1530/EJE-11-0953. Epub 2012 Feb 7.

PMID:
22315359
[PubMed - indexed for MEDLINE]
Free Article
15.
16.

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV.

N Engl J Med. 2013 Jun 27;368(26):2476-86. doi: 10.1056/NEJMoa1300253.

PMID:
23802516
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
Free Article
18.

Novel activating mutations of the calcium-sensing receptor: the calcilytic NPS-2143 mitigates excessive signal transduction of mutant receptors.

Letz S, Rus R, Haag C, Dörr HG, Schnabel D, Möhlig M, Schulze E, Frank-Raue K, Raue F, Mayr B, Schöfl C.

J Clin Endocrinol Metab. 2010 Oct;95(10):E229-33. doi: 10.1210/jc.2010-0651. Epub 2010 Jul 28.

PMID:
20668040
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia.

Nanjo K, Nagai S, Shimizu C, Tajima T, Kondo T, Miyoshi H, Yoshioka N, Koike T.

Endocr J. 2010;57(9):787-92. Epub 2010 Aug 6.

PMID:
20697181
[PubMed - indexed for MEDLINE]
Free Article
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