{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:08:20Z","timestamp":1793156900909,"version":"4.5.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T00:00:00Z","timestamp":1486425600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Research Foundation of the Chief Scientist at the Israel Ministry of Health"},{"name":"Israel Endocrine Society"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1007\/s12020-017-1241-5","type":"journal-article","created":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T11:48:52Z","timestamp":1486468132000},"page":"741-747","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia"],"prefix":"10.1007","volume":"55","author":[{"given":"Auryan","family":"Szalat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoshana","family":"Shpitzen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anat","family":"Tsur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilana","family":"Zalmon Koren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shmuel","family":"Shilo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liana","family":"Tripto-Shkolnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronen","family":"Durst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eran","family":"Leitersdorf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vardiella","family":"Meiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,2,7]]},"reference":[{"issue":"10","key":"1241_CR1","doi-asserted-by":"crossref","first-page":"3570","DOI":"10.1210\/jc.2014-1414","volume":"99","author":"R Eastell","year":"2014","unstructured":"R. Eastell, M.L. Brandi, A.G. Costa, P. D\u2019Amour, D.M. Shoback, R.V. Thakker, Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. J. Clin. Endocrinol. Metab. 99(10), 3570\u20133579 (2014)","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"1241_CR2","doi-asserted-by":"crossref","unstructured":"R.V. Thakker, Genetics of parathyroid tumours. J. Intern. Med. (2016) 280(6), 574\u2013583","DOI":"10.1111\/joim.12523"},{"issue":"Suppl 1","key":"1241_CR3","doi-asserted-by":"crossref","first-page":"13","DOI":"10.4158\/EP10308.RA","volume":"17","author":"J Varghese","year":"2011","unstructured":"J. Varghese, T. Rich, C. Jimenez, Benign familial hypocalciuric hypercalcemia. Endocr. Pract. 17(Suppl 1), 13\u201317 (2011)","journal-title":"Endocr. Pract."},{"issue":"26","key":"1241_CR4","doi-asserted-by":"crossref","first-page":"2476","DOI":"10.1056\/NEJMoa1300253","volume":"368","author":"MA Nesbit","year":"2013","unstructured":"M.A. Nesbit, F.M. Hannan, S.A. Howles, V.N. Babinsky, R.A. Head, T. Cranston, N. Rust, M.R. Hobbs, H. Heath 3rd, R.V. Thakker, Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia. N. Eng. J. Med. 368(26), 2476\u20132486 (2013)","journal-title":"N. Eng. J. Med."},{"issue":"1","key":"1241_CR5","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/ng.2492","volume":"45","author":"MA Nesbit","year":"2013","unstructured":"M.A. Nesbit, F.M. Hannan, S.A. Howles, A.A. Reed, T. Cranston, C.E. Thakker, L. Gregory, A.J. Rimmer, N. Rust, U. Graham, P.J. Morrison, S.J. Hunter, M.P. Whyte, G. McVean, D. Buck, R.V. Thakker, Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat. Genet. 45(1), 93\u201397 (2013)","journal-title":"Nat. Genet."},{"issue":"2","key":"1241_CR6","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1007\/s12020-014-0370-3","volume":"48","author":"A Szalat","year":"2014","unstructured":"A. Szalat, M. Shahar, S. Shpitzen, B. Nachmias, G. Munter, D. Gillis, R. Durst, D. Mevorach, E. Leitersdorf, V. Meiner, H. Rosen, Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation. Endocrine 48(2), 444\u2013453 (2014)","journal-title":"Endocrine"},{"issue":"4","key":"1241_CR7","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"I.A. Adzhubei, S. Schmidt, L. Peshkin, V.E. Ramensky, A. Gerasimova, P. Bork, A.S. Kondrashov, S.R. Sunyaev, A method and server for predicting damaging missense mutations. Nat. Methods 7(4), 248\u2013249 (2010)","journal-title":"Nat. Methods"},{"issue":"8","key":"1241_CR8","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"J.M. Schwarz, C. Rodelsperger, M. Schuelke, D. Seelow, Mutation Taster evaluates disease-causing potential of sequence alterations. Nat. Methods 7(8), 575\u2013576 (2010)","journal-title":"Nat. Methods"},{"issue":"5","key":"1241_CR9","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1111\/j.1365-2265.2008.03259.x","volume":"69","author":"SE Christensen","year":"2008","unstructured":"S.E. Christensen, P.H. Nissen, P. Vestergaard, L. Heickendorff, K. Brixen, L. Mosekilde, 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). 69(5), 713\u2013720 (2008)","journal-title":"Clin. Endocrinol. (Oxf)."},{"issue":"3","key":"1241_CR10","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1016\/j.bbrc.2006.02.018","volume":"342","author":"C Leech","year":"2006","unstructured":"C. Leech, P. Lohse, V. Stanojevic, A. Lechner, B. Goke, C. Spitzweg, Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor. Biochem. Biophys. Res. Commun. 342(3), 996\u20131002 (2006)","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"2","key":"1241_CR11","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s00223-014-9877-0","volume":"95","author":"NF Jakobsen","year":"2014","unstructured":"N.F. Jakobsen, L. Rolighed, E. Moser, P.H. Nissen, L. Mosekilde, L. Rejnmark, Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study. Calcif. Tissue Int. 95(2), 141\u2013152 (2014)","journal-title":"Calcif. Tissue Int."},{"issue":"12","key":"1241_CR12","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1093\/hmg\/dds105","volume":"21","author":"FM Hannan","year":"2012","unstructured":"F.M. Hannan, M.A. Nesbit, C. Zhang, T. Cranston, A.J. Curley, B. Harding, C. Fratter, N. Rust, P.T. Christie, J.J. Turner, M.C. Lemos, M.R. Bowl, R. Bouillon, C. Brain, N. Bridges, C. Burren, J.M. Connell, H. Jung, E. Marks, D. McCredie, Z. Mughal, C. Rodda, S. Tollefsen, E.M. Brown, J.J. Yang, R.V. Thakker, 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. 21(12), 2768\u20132778 (2012)","journal-title":"Hum. Mol. Genet."},{"issue":"12","key":"1241_CR13","doi-asserted-by":"crossref","first-page":"E2022","DOI":"10.1210\/jc.2013-2571","volume":"98","author":"Y Fujisawa","year":"2013","unstructured":"Y. Fujisawa, R. Yamaguchi, E. Satake, K. Ohtaka, T. Nakanishi, K. Ozono, T. Ogata, Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria. J. Clin. Endocrinol. Metab. 98(12), E2022\u2013E2027 (2013)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"7","key":"1241_CR14","doi-asserted-by":"crossref","first-page":"E1311","DOI":"10.1210\/jc.2014-1120","volume":"99","author":"GN Hendy","year":"2014","unstructured":"G.N. Hendy, L. Canaff, R.S. Newfield, L. Tripto-Shkolnik, B.Y. Wong, B.S. Lee, D.E. Cole, Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. J. Clin. Endocrinol. Metab. 99(7), E1311\u2013E1315 (2014)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"7","key":"1241_CR15","doi-asserted-by":"crossref","first-page":"2515","DOI":"10.1210\/jc.2015-1518","volume":"100","author":"S Tenhola","year":"2015","unstructured":"S. Tenhola, G.N. Hendy, H. Valta, L. Canaff, B.S. Lee, B.Y. Wong, M.J. Valimaki, D.E. Cole, O. Makitie, Cinacalcet treatment in an adolescent with Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 caused by AP2S1 mutation. J. Clin. Endocrinol. Metab. 100(7), 2515\u20132518 (2015)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"14","key":"1241_CR16","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMc1511646","volume":"374","author":"SA Howles","year":"2016","unstructured":"S.A. Howles, F.M. Hannan, V.N. Babinsky, A. Rogers, C.M. Gorvin, N. Rust, T. Richardson, M.J. McKenna, M.A. Nesbit, R.V. Thakker, Cinacalcet for symptomatic hypercalcemia caused by AP2S1 mutations. N. Eng. J. Med. 374(14), 1396\u20131398 (2016)","journal-title":"N. Eng. J. Med."},{"issue":"18","key":"1241_CR17","doi-asserted-by":"crossref","first-page":"5079","DOI":"10.1093\/hmg\/ddv226","volume":"24","author":"FM Hannan","year":"2015","unstructured":"F.M. Hannan, S.A. Howles, A. Rogers, T. Cranston, C.M. Gorvin, V.N. Babinsky, A.A. Reed, C.E. Thakker, D. Bockenhauer, R.S. Brown, J.M. Connell, J. Cook, K. Darzy, S. Ehtisham, U. Graham, T. Hulse, S.J. Hunter, L. Izatt, D. Kumar, M.J. McKenna, J.A. McKnight, P.J. Morrison, M.Z. Mughal, D. O\u2019Halloran, S.H. Pearce, M.E. Porteous, M. Rahman, T. Richardson, R. Robinson, I. Scheers, H. Siddique, W.G. Van\u2019t Hoff, T. Wang, M.P. Whyte, M.A. Nesbit, R.V. Thakker, 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. 24(18), 5079\u20135092 (2015)","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"1241_CR18","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1210\/jc.2015-3442","volume":"101","author":"R Vargas-Poussou","year":"2016","unstructured":"R. Vargas-Poussou, L. Mansour-Hendili, S. Baron, J.P. Bertocchio, C. Travers, C. Simian, C. Treard, V. Baudouin, S. Beltran, F. Broux, O. Camard, S. Cloarec, C. Cormier, X. Debussche, E. Dubosclard, C. Eid, J.P. Haymann, S.R. Kiando, J.M. Kuhn, G. Lefort, A. Linglart, B. Lucas-Pouliquen, M.A. Macher, G. Maruani, S. Ouzounian, M. Polak, E. Requeda, D. Robier, C. Silve, J.C. Souberbielle, I. Tack, D. Vezzosi, X. Jeunemaitre, P. Houillier, Familial Hypocalciuric Hypercalcemia Types 1 and 3 and primary hyperparathyroidism: similarities and differences. J. Clin. Endocrinol. Metab. 101(5), 2185\u20132195 (2016)","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"2","key":"1241_CR19","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1111\/j.1365-2265.2011.04197.x","volume":"76","author":"H Kahal","year":"2012","unstructured":"H. Kahal, M. Aye, A.S. Rigby, T. Sathyapalan, R.J. England, S.L. Atkin, The effect of parathyroidectomy on neuropsychological symptoms and biochemical parameters in patients with asymptomatic primary hyperparathyroidism. Clin. Endocrinol. (Oxf). 76(2), 196\u2013200 (2012)","journal-title":"Clin. Endocrinol. (Oxf)."},{"issue":"5","key":"1241_CR20","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1007\/s00423-011-0885-5","volume":"397","author":"D Babinska","year":"2012","unstructured":"D. Babinska, M. Barczynski, T. Stefaniak, T. Oseka, A. Babinska, D. Babinski, K. Sworczak, A.J. Lachinski, W. Nowak, Z. Sledzinski, Evaluation of selected cognitive functions before and after surgery for primary hyperparathyroidism. Langenbecks. Arch. Surg. 397(5), 825\u2013831 (2012)","journal-title":"Langenbecks. Arch. Surg."},{"issue":"2","key":"1241_CR21","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1001\/2013.jamasurg.316","volume":"148","author":"T Weber","year":"2013","unstructured":"T. Weber, J. Eberle, U. Messelhauser, L. Schiffmann, C. Nies, J. Schabram, A. Zielke, K. Holzer, E. Rottler, D. Henne-Bruns, M. Keller, J. von Wietersheim, Parathyroidectomy, elevated depression scores, and suicidal ideation in patients with primary hyperparathyroidism: results of a prospective multicenter study. JAMA Surg. 148(2), 109\u2013115 (2013)","journal-title":"JAMA Surg."},{"issue":"8","key":"1241_CR22","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1038\/nrm3151","volume":"12","author":"HT McMahon","year":"2011","unstructured":"H.T. McMahon, E. Boucrot, Molecular mechanism and physiological functions of clathrin-mediated endocytosis. Nat. Rev. Mol. Cell Biol. 12(8), 517\u2013533 (2011)","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"1241_CR23","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1146\/annurev.cellbio.23.090506.123516","volume":"23","author":"JD Shepherd","year":"2007","unstructured":"J.D. Shepherd, R.L. Huganir, The cell biology of synaptic plasticity: AMPA receptor trafficking. Annu. Rev. Cell Dev. Biol. 23, 613\u2013643 (2007)","journal-title":"Annu. Rev. Cell Dev. Biol."},{"issue":"7","key":"1241_CR24","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1038\/mp.2011.123","volume":"17","author":"KO Schubert","year":"2012","unstructured":"K.O. Schubert, M. Focking, J.H. Prehn, D.R. Cotter, Hypothesis review: are clathrin-mediated endocytosis and clathrin-dependent membrane and protein trafficking core pathophysiological processes in schizophrenia and bipolar disorder? Mol. Psychiatry 17(7), 669\u2013681 (2012)","journal-title":"Mol. Psychiatry"},{"key":"1241_CR25","doi-asserted-by":"crossref","first-page":"2759","DOI":"10.1038\/ncomms3759","volume":"4","author":"S Matsuda","year":"2013","unstructured":"S. Matsuda, W. Kakegawa, T. Budisantoso, T. Nomura, K. Kohda, M. Yuzaki, Stargazin regulates AMPA receptor trafficking through adaptor protein complexes during long-term depression. Nat. Commun. 4, 2759 (2013)","journal-title":"Nat. Commun."},{"issue":"1","key":"1241_CR26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00005792-200201000-00001","volume":"81","author":"WF Simonds","year":"2002","unstructured":"W.F. Simonds, L.A. James-Newton, S.K. Agarwal, B. Yang, M.C. Skarulis, G.N. Hendy, S.J. Marx, Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore) 81(1), 1\u201326 (2002)","journal-title":"Medicine (Baltimore)"},{"issue":"3","key":"1241_CR27","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1136\/jmg.2003.016725","volume":"41","author":"J Warner","year":"2004","unstructured":"J. Warner, M. Epstein, A. Sweet, D. Singh, J. Burgess, S. Stranks, P. Hill, D. Perry-Keene, D. Learoyd, B. Robinson, P. Birdsey, E. Mackenzie, B.T. Teh, J.B. Prins, J. Cardinal, Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J. Med. Genet. 41(3), 155\u2013160 (2004)","journal-title":"J. Med. Genet."},{"issue":"1","key":"1241_CR28","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/ncpendmet0718","volume":"4","author":"FM Hannan","year":"2008","unstructured":"F.M. Hannan, M.A. Nesbit, P.T. Christie, C. Fratter, N.E. Dudley, G.P. Sadler, R.V. Thakker, Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Nat. Clin. Pract. Endocrinol. Metab. 4(1), 53\u201358 (2008)","journal-title":"Nat. Clin. Pract. Endocrinol. Metab."},{"issue":"5","key":"1241_CR29","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/j.ajhg.2016.08.018","volume":"99","author":"B Guan","year":"2016","unstructured":"B. Guan, J.M. Welch, J.C. Sapp, H. Ling, Y. Li, J.J. Johnston, E. Kebebew, L.G. Biesecker, W.F. Simonds, S.J. Marx, S.K. Agarwal, GCM2-Activating mutations in familial isolated hyperparathyroidism. Am. J. Hum. Genet. 99(5), 1034\u20131044 (2016)","journal-title":"Am. J. Hum. Genet."}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-017-1241-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12020-017-1241-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-017-1241-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,25]],"date-time":"2017-06-25T09:57:35Z","timestamp":1498384655000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12020-017-1241-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,7]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["1241"],"URL":"https:\/\/doi.org\/10.1007\/s12020-017-1241-5","relation":{},"ISSN":["1355-008X","1559-0100"],"issn-type":[{"value":"1355-008X","type":"print"},{"value":"1559-0100","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,7]]}}}