{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T00:09:58Z","timestamp":1715299798371},"reference-count":21,"publisher":"Japan Endocrine Society","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2022]]},"DOI":"10.1507\/endocrj.ej21-0187","type":"journal-article","created":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T22:09:01Z","timestamp":1631830141000},"page":"95-100","source":"Crossref","is-referenced-by-count":0,"title":["A case of central diabetes insipidus due to neurophysin II gene abnormality diagnosed based on a family history of nocturnal enuresis"],"prefix":"10.1507","volume":"69","author":[{"given":"Lucia","family":"Sugawara","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, Omihachiman Community Medical Center, Omihachiman, Shiga 523-0082, Japan"},{"name":"Department of Medicine, Shiga University of Medical Science, Otsu, Shiga 520-2092, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takaaki","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Omihachiman Community Medical Center, Omihachiman, Shiga 523-0082, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshitaka","family":"Ishizuka","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Omihachiman Community Medical Center, Omihachiman, Shiga 523-0082, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Maegawa","sequence":"additional","affiliation":[{"name":"Department of Medicine, Shiga University of Medical Science, Otsu, Shiga 520-2092, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"386","reference":[{"key":"1","doi-asserted-by":"publisher","unstructured":"1 Brownstein MJ, Russell JT, Gainer H (1980) Synthesis, transport, and release of posterior pituitary hormones. Science 207: 373\u2013378.","DOI":"10.1126\/science.6153132"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 Ito M, Mori Y, Oiso Y, Saito H (1991) A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest 87: 725\u2013728.","DOI":"10.1172\/JCI115052"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3 Blackett PR, Seif SM, Altmiller DH, Robinson AG (1983) Familial central diabetes insipidus: vasopressin and nicotine stimulated neurophysin deficiency with subnormal oxytocin and estrogen stimulated neurophysin. Am J Med Sci 286: 42\u201346.","DOI":"10.1097\/00000441-198311000-00007"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 McLeod JF, Kovacs L, Gaskill MB, Rittig S, Bradley GS, et al. (1993) Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. J Clin Endocrinol Metab 77: 599A\u2013599G.","DOI":"10.1210\/jcem.77.3.8370682"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Bahnsen U, Oosting P, Swaab DF, Nahke P, Richter D, et al. (1992) A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. EMBO J 11: 19\u201323.","DOI":"10.1002\/j.1460-2075.1992.tb05022.x"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6 Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, et al. (2012) Diabetes insipidus diagnosis and management. Horm Res Paediatr 77: 69\u201384.","DOI":"10.1159\/000336333"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Fenske W, Allolio B (2012) Current state and future perspectives in the diagnosis of diabetes insipidus: a clinical review. J Clin Endocrinol Metab 97: 3426\u20133437.","DOI":"10.1210\/jc.2012-1981"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Yuasa H, Ito M, Nagasaki H, Oiso Y, Miyamoto S, et al. (1993) Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. J Clin Endocrinol Metab 77: 600\u2013604.","DOI":"10.1210\/jcem.77.3.8103767"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9 Garc\u00eda-Casta\u00f1o A, Madariaga L, P\u00e9rez de Nanclares G, Vela A, Rica I, et al. (2020) Forty-one individuals with mutations in the AVP-NPII gene associated with familial neurohypophyseal Diabetes Insipidus. J Clin Endocrinol Metab 105: 1112\u20131118.","DOI":"10.1210\/clinem\/dgaa069"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10 Calvo B, Bilbao JR, Rodr\u00edguez A, Rodr\u00edguez-Arnao MD, Casta\u00f1o L (1999) Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. J Clin Endocrinol Metab 84: 3351\u20133354.","DOI":"10.1210\/jcem.84.9.5979"},{"key":"11","unstructured":"11 Rittig S, Robertson GL, Siggaard C, Kov\u00e1cs L, Gregersen N, et al. (1996) Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet 58: 107\u2013117."},{"key":"12","doi-asserted-by":"crossref","unstructured":"12 Toustrup LB, Kvistgaard H, Palmfeldt J, Bjerre CK, Gregersen N, et al. (2018) The novel Ser18 del AVP variant causes inherited neurohypophyseal diabetes insipidus by mechanisms shared with other signal peptide variants. Neuroendocrinology 106: 167\u2013186.","DOI":"10.1159\/000477246"},{"key":"13","unstructured":"13 Ito T, Takagi J (2017) The differential diagnosis of central diabetes insipidus by arginine-vasopressin measurement using high-sensitivity radioimmunoassay. J Aichi Med Univ Assoc 45: 33\u201340."},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Fenske W, Refardt J, Chifu I, Schnyder I, Winzeler B, et al. (2018) A Copeptin-Based approach in the diagnosis of diabetes insipidus. N Engl J Med 379: 428\u2013439.","DOI":"10.1056\/NEJMoa1803760"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Zerbe RL, Robertson GL (1981) A comparison of plasma vasopressin measurements with a standard indirect test in the differential diagnosis of polyuria. N Engl J Med 305: 1539\u20131546.","DOI":"10.1056\/NEJM198112243052601"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Ito M, Mori Y, Oiso Y, Saito H (1991) A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest 46: 725\u2013728.","DOI":"10.1172\/JCI115052"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17 Ueta Y, Taniguchi S, Yoshida A, Murakami I, Mitani Y, et al. (1996) A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene. J Clin Endocrinol Metab 81: 1787\u20131790.","DOI":"10.1210\/jc.81.5.1787"},{"key":"18","unstructured":"18 Lee YW, Lee KW, Ryu JW, Mok JO, Ki CS, et al. (2008) Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus. Ann Clin Lab Sci 38: 12\u201314."},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Ito M, Yu RN, Jameson JL (1999) Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins. J Biol Chem 274: 9029\u20139037.","DOI":"10.1074\/jbc.274.13.9029"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20 Phillips JA 3rd (2003) Dominant-negative diabetes insipidus and other endocrinopathies. J Clin Invest 112: 1641\u20131643.","DOI":"10.1172\/JCI20441"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Birk J, Friberg MA, Prescianotto-Baschong C, Spiess M, Rutishauser J (2009) Dominant pro-vasopressin mutants that cause diabetes insipidus form disulfide-linked fibrillar aggregates in the endoplasmic reticulum. J Cell Sci 122: 3994\u20134002.","DOI":"10.1242\/jcs.051136"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/69\/1\/69_EJ21-0187\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T05:21:09Z","timestamp":1715232069000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/69\/1\/69_EJ21-0187\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej21-0187","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]},"article-number":"EJ21-0187"}}