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Items: 1 to 20 of 101

1.

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV.

Nat Genet. 2013 Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9.

2.

Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.

Hendy GN, Canaff L, Newfield RS, Tripto-Shkolnik L, Wong BY, Lee BS, Cole DE.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1311-5. doi: 10.1210/jc.2014-1120. Epub 2014 Apr 14.

PMID:
24731014
3.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

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.

Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16.

4.

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
5.

AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.

Hovden S, Rejnmark L, Ladefoged SA, Nissen PH.

Eur J Endocrinol. 2017 Feb;176(2):177-185. Epub 2016 Nov 15.

PMID:
27913609
6.

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
7.

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.

8.

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L, Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J, Thakker RV.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7.

9.

Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.

Fujisawa Y, Yamaguchi R, Satake E, Ohtaka K, Nakanishi T, Ozono K, Ogata T.

J Clin Endocrinol Metab. 2013 Dec;98(12):E2022-7. doi: 10.1210/jc.2013-2571. Epub 2013 Sep 30.

PMID:
24081735
10.

GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.

Mayr B, Schnabel D, Dörr HG, Schöfl C.

Eur J Endocrinol. 2016 May;174(5):R189-208. doi: 10.1530/EJE-15-1028. Epub 2015 Dec 8. Review.

11.

Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.

Hendy GN, Cole DE.

J Clin Endocrinol Metab. 2013 Dec;98(12):4666-9. doi: 10.1210/jc.2013-3616. No abstract available.

12.

Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.

Tenhola S, Hendy GN, Valta H, Canaff L, Lee BS, Wong BY, Välimäki MJ, Cole DE, Mäkitie O.

J Clin Endocrinol Metab. 2015 Jul;100(7):2515-8. doi: 10.1210/jc.2015-1518. Epub 2015 May 20.

PMID:
25993639
13.

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
14.

Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.

Szalat A, Shpitzen S, Tsur A, Zalmon Koren I, Shilo S, Tripto-Shkolnik L, Durst R, Leitersdorf E, Meiner V.

Endocrine. 2017 Mar;55(3):741-747. doi: 10.1007/s12020-017-1241-5. Epub 2017 Feb 7.

PMID:
28176280
15.

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
16.

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.

17.

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.

18.

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
19.

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.

20.

Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.

Lambert AS, Grybek V, Francou B, Esterle L, Bertrand G, Bouligand J, Guiochon-Mantel A, Hieronimus S, Voitel D, Soskin S, Magdelaine C, Lienhardt A, Silve C, Linglart A.

J Clin Endocrinol Metab. 2014 Mar;99(3):E469-73. doi: 10.1210/jc.2013-3136. Epub 2014 Jan 1.

PMID:
24423332

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