{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T11:57:43Z","timestamp":1719230263219},"reference-count":20,"publisher":"Japanese Society of Internal Medicine","issue":"19","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2015]]},"DOI":"10.2169\/internalmedicine.54.4886","type":"journal-article","created":{"date-parts":[[2015,9,30]],"date-time":"2015-09-30T22:04:30Z","timestamp":1443650670000},"page":"2475-2481","source":"Crossref","is-referenced-by-count":4,"title":["A Novel Missense Mutation of the &lt;i&gt;MEN1&lt;\/i&gt; Gene in a Patient with Multiple Endocrine Neoplasia Type 1 with Glucagonoma and Obesity"],"prefix":"10.2169","volume":"54","author":[{"given":"Takaaki","family":"Murakami","sequence":"first","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Usui","sequence":"additional","affiliation":[{"name":"Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akio","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Surgery, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuki","family":"Mochida","sequence":"additional","affiliation":[{"name":"Department of Surgery, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumio","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuo","family":"Nambu","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuki","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin","family":"Yonemitsu","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiji","family":"Muro","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shogo","family":"Oki","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Thakker RV, Newey PJ, Walls GV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 97: 2990-3011, 2012.","DOI":"10.1210\/jc.2012-1230"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Sakurai A, Suzuki S, Kosugi S, et al. Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database. Clin Endocrinol (Oxf) 76: 533-539, 2012.","DOI":"10.1111\/j.1365-2265.2011.04227.x"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Marx S, Spiegel AM, Skarulis MC, Doppman JL, Collins FS, Liotta LA. Multiple endocrine neoplasia type 1: clinical and genetic topics. Ann Intern Med 129: 484-494, 1998.","DOI":"10.7326\/0003-4819-129-6-199809150-00011"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Pannett AA, Thakker RV. Somatic mutations in MEN type 1 tumors, consistent with the Knudson \"two-hit\" hypothesis. J Clin Endocrinol Metab 86: 4371-4374, 2001.","DOI":"10.1210\/jc.86.9.4371"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Tsukada T, Nagamura Y, Ohkura N. <i>MEN1<\/i> gene and its mutations: basic and clinical implications. Cancer Sci 100: 209-215, 2009.","DOI":"10.1111\/j.1349-7006.2008.01034.x"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Nagamura Y, Yamazaki M, Shimazu S, Sano K, Tsukada T, Sakurai A. A novel splice site mutation of the <i>MEN1<\/i> gene identified in a patient with primary hyperparathyroidism. Endocr J 59: 523-530, 2012.","DOI":"10.1507\/endocrj.EJ12-0037"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Nagamura Y, Yamazaki M, Shimazu S, Tsukada T, Sakurai A. Application of an intracellular stability test of a novel missense menin mutant to the diagnosis of multiple endocrine neoplasia type 1. Endocr J 59: 1093-1098, 2012.","DOI":"10.1507\/endocrj.EJ12-0145"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Soga J, Yakuwa Y. Glucagonomas\/diabetico-dermatogenic syndrome (DDS): a statistical evaluation of 407 reported cases. J Hepatobiliary Pancreat Surg 5: 312-319, 1998.","DOI":"10.1007\/s005340050052"},{"key":"9","unstructured":"9. Tanaka K, Toriumi M, Ito Y, Ogino Y, Noguchi K, Nagata M. Glucagonoma Syndrome and Glucagon Producing Tumor. Tan to Sui (Journal of Biliary Tract &amp; Pancreas) 17: 33-42, 1996 (in Japanese)."},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 29: 22-32, 2008.","DOI":"10.1002\/humu.20605"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Ukita C, Yamaguchi M, Tanaka T, Shigeta H, Nishikawa M. A novel missense mutation of the <i>MEN1<\/i> gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome. Intern Med 42: 1112-1116, 2003.","DOI":"10.2169\/internalmedicine.42.1112"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 76: 7.20.1-7.20.41, 2013.","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Flanagan SE, Patch AM, Ellard S. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers 14: 533-537, 2010.","DOI":"10.1089\/gtmb.2010.0036"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Cuny T, Pertuit M, Sahnoun-Fathallah M, et al. Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis. Eur J Endocrinol 168: 533-541, 2013.","DOI":"10.1530\/EJE-12-0763"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Jamilloux Y, Favier J, Pertuit M, et al. A MEN1 syndrome with a paraganglioma. Eur J Hum Genet 22: 283-285, 2014.","DOI":"10.1038\/ejhg.2013.128"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. La P, Desmond A, Hou Z, Silva AC, Schnepp RW, Hua X. Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. Oncogene 25: 3537-3546, 2006.","DOI":"10.1038\/sj.onc.1209400"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Yamazaki M, Suzuki S, Kosugi S, et al. Delay in the diagnosis of multiple endocrine neoplasia type 1: typical symptoms are frequently overlooked. Endocr J 59: 797-807, 2012.","DOI":"10.1507\/endocrj.EJ12-0071"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Warner RR. Enteroendocrine tumors other than carcinoid: a review of clinically significant advances. Gastroenterology 128: 1668-1684, 2005.","DOI":"10.1053\/j.gastro.2005.03.078"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Leichter SB. Clinical and metabolic aspects of glucagonoma. Medicine (Baltimore) 59: 100-113, 1980.","DOI":"10.1097\/00005792-198003000-00002"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Mighiu PI, Yue JT, Filippi BM, et al. Hypothalamic glucagon signaling inhibits hepatic glucose production. Nat Med 19: 766-772, 2013.","DOI":"10.1038\/nm.3115"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/54\/19\/54_54.4886\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,31]],"date-time":"2019-08-31T04:21:07Z","timestamp":1567225267000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/54\/19\/54_54.4886\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":20,"journal-issue":{"issue":"19","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.54.4886","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}