{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T01:29:58Z","timestamp":1789694998756,"version":"4.0.1"},"reference-count":80,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice & Research Clinical Endocrinology & Metabolism"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1016\/j.beem.2016.02.008","type":"journal-article","created":{"date-parts":[[2016,2,20]],"date-time":"2016-02-20T03:29:33Z","timestamp":1455938973000},"page":"249-262","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"title":["Genetic forms of neurohypophyseal diabetes insipidus"],"prefix":"10.1016","volume":"30","author":[{"given":"Jonas","family":"Rutishauser","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Spiess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kopp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.beem.2016.02.008_bib1","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1172\/JCI115052","article-title":"A\u00a0single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus","volume":"87","author":"Ito","year":"1991","journal-title":"J\u00a0Clin Investig"},{"key":"10.1016\/j.beem.2016.02.008_bib2","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/295299a0","article-title":"Nucleotide sequence of cloned cDNA encoding bovine arginine vasopressin-neurophysin II precursor","volume":"295","author":"Land","year":"1982","journal-title":"Nature"},{"key":"10.1016\/j.beem.2016.02.008_bib3","doi-asserted-by":"crossref","first-page":"10236","DOI":"10.1016\/S0021-9258(17)39236-0","article-title":"The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line","volume":"260","author":"Sausville","year":"1985","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2016.02.008_bib4","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/S0889-8529(05)70207-3","article-title":"Antidiuretic hormone. Normal and disordered function","volume":"30","author":"Robertson","year":"2001","journal-title":"Endocrinol Metab Clin N Am"},{"key":"10.1016\/j.beem.2016.02.008_bib5","doi-asserted-by":"crossref","first-page":"1768","DOI":"10.1172\/JCI118222","article-title":"Immunohistochemical localization of V2 vasopressin receptor along the nephron and functional role of luminal V2 receptor in terminal inner medullary collecting ducts","volume":"96","author":"Nonoguchi","year":"1995","journal-title":"J\u00a0Clin Investig"},{"key":"10.1016\/j.beem.2016.02.008_bib6","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1126\/science.8140421","article-title":"Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine","volume":"264","author":"Deen","year":"1994","journal-title":"Science"},{"key":"10.1016\/j.beem.2016.02.008_bib7","doi-asserted-by":"crossref","first-page":"14800","DOI":"10.1074\/jbc.272.23.14800","article-title":"Phosphorylation of serine 256 is required for cAMP-dependent regulatory exocytosis of the aquaporin-2 water channel","volume":"272","author":"Fushimi","year":"1997","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2016.02.008_bib8","doi-asserted-by":"crossref","first-page":"41473","DOI":"10.1074\/jbc.M207525200","article-title":"The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel","volume":"277","author":"van Balkom","year":"2002","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2016.02.008_bib9","doi-asserted-by":"crossref","first-page":"R671","DOI":"10.1152\/ajpregu.1987.253.5.R671","article-title":"Osmoregulation and control of vasopressin secretion in healthy humans","volume":"253","author":"Baylis","year":"1987","journal-title":"Am J Physiol Regul Integr Comp Physiol"},{"key":"10.1016\/j.beem.2016.02.008_bib10","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ki.1976.76","article-title":"The osmoregulation of vasopressin","volume":"10","author":"Robertson","year":"1976","journal-title":"Kidney Int"},{"key":"10.1016\/j.beem.2016.02.008_bib11","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1042\/cs0710651","article-title":"The osmotic thresholds for thirst and vasopressin release are similar in healthy man","volume":"71","author":"Thompson","year":"1986","journal-title":"Clin Sci"},{"key":"10.1016\/j.beem.2016.02.008_bib12","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/S0889-8529(18)30031-8","article-title":"Diabetes insipidus","volume":"24","author":"Robertson","year":"1995","journal-title":"Endocrinol Metab Clin N Am"},{"key":"10.1016\/j.beem.2016.02.008_bib13","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/nrendo.2011.100","article-title":"Familial forms of diabetes insipidus: clinical and molecular characteristics","volume":"7","author":"Babey","year":"2011","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib14","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1056\/NEJM198704233161707","article-title":"Diabetes insipidus in pregnancy associated with abnormally high circulating vasopressinase activity","volume":"316","author":"Durr","year":"1987","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2016.02.008_bib15","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1056\/NEJM199102213240803","article-title":"Aggravation of subclinical diabetes insipidus during pregnancy","volume":"324","author":"Iwasaki","year":"1991","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2016.02.008_bib16","first-page":"192","article-title":"A\u00a0novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus","volume":"81","author":"Rutishauser","year":"1996","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib17","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1210\/jc.2012-3548","article-title":"Acute diabetes insipidus mediated by vasopressinase after placental abruption","volume":"98","author":"Wallia","year":"2013","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib18","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1056\/NEJM198112243052601","article-title":"A\u00a0comparison of plasma vasopressin measurements with a standard indirect test in the differential diagnosis of polyuria","volume":"305","author":"Zerbe","year":"1981","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2016.02.008_bib19","doi-asserted-by":"crossref","first-page":"2340","DOI":"10.1172\/JCI107423","article-title":"Development and clinical application of a new method for the radioimmunoassay of arginine vasopressin in human plasma","volume":"52","author":"Robertson","year":"1973","journal-title":"J\u00a0Clin Investig"},{"key":"10.1016\/j.beem.2016.02.008_bib20","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1373\/clinchem.2005.060038","article-title":"Assay for the measurement of copeptin, a stable peptide derived from the precursor of vasopressin","volume":"52","author":"Morgenthaler","year":"2006","journal-title":"Clin Chem"},{"key":"10.1016\/j.beem.2016.02.008_bib21","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1210\/jc.2010-2499","article-title":"Correlation of plasma copeptin and vasopressin concentrations in hypo-, iso-, and hyperosmolar states","volume":"96","author":"Balanescu","year":"2011","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib22","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1210\/jc.2010-2345","article-title":"Copeptin in the differential diagnosis of the polydipsia\u2013polyuria syndrome \u2013 revisiting the direct and indirect water deprivation tests","volume":"96","author":"Fenske","year":"2011","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib23","doi-asserted-by":"crossref","first-page":"2268","DOI":"10.1210\/jc.2014-4507","article-title":"Diagnostic accuracy of copeptin in the differential diagnosis of the polyuria\u2013polydipsia syndrome: a prospective multicenter study","volume":"100","author":"Timper","year":"2015","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib24","first-page":"305","article-title":"De la polydipsie","volume":"203\u2013208","author":"Lacombe","year":"1841","journal-title":"L'Exp\u00e9rience"},{"key":"10.1016\/j.beem.2016.02.008_bib25","first-page":"180","article-title":"\u00dcber die heredit\u00e4re Form des Diabetes insipidus","volume":"93","author":"Weil","year":"1908","journal-title":"Arch Klin Med"},{"key":"10.1016\/j.beem.2016.02.008_bib26","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/S0140-6736(01)87712-6","article-title":"Notes on some cases of diabetes insipidus with marked family and hereditary tendencies","volume":"140","author":"McIlraith","year":"1892","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2016.02.008_bib27","doi-asserted-by":"crossref","first-page":"3289","DOI":"10.1002\/j.1460-2075.1984.tb02291.x","article-title":"The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated","volume":"3","author":"Schmale","year":"1984","journal-title":"EMBO J"},{"key":"10.1016\/j.beem.2016.02.008_bib28","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1093\/hmg\/8.7.1303","article-title":"Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin","volume":"8","author":"Willcutts","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.beem.2016.02.008_bib29","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1530\/EJE-09-0772","article-title":"Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy","volume":"162","author":"Abu Libdeh","year":"2010","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib30","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/j.1399-0004.2011.01833.x","article-title":"A\u00a0novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus","volume":"83","author":"Christensen","year":"2013","journal-title":"Clin Genet"},{"key":"10.1016\/j.beem.2016.02.008_bib31","article-title":"Early-onset central diabetes insipidus due to compound heterozygosity for AVP mutations","author":"Bourdet","year":"2015","journal-title":"Hormone Res Pediatr"},{"key":"10.1016\/j.beem.2016.02.008_bib32","doi-asserted-by":"crossref","first-page":"9029","DOI":"10.1074\/jbc.274.13.9029","article-title":"Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins","volume":"274","author":"Ito","year":"1999","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2016.02.008_bib33","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1530\/eje.0.1450439","article-title":"Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta\/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II)","volume":"145","author":"Fl\u00fcck","year":"2001","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib34","doi-asserted-by":"crossref","first-page":"1963","DOI":"10.1210\/jc.2003-031542","article-title":"A\u00a0novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus","volume":"89","author":"Wahlstrom","year":"2004","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib35","first-page":"600","article-title":"Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus","volume":"77","author":"Yuasa","year":"1993","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib36","first-page":"107","article-title":"Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus","volume":"58","author":"Rittig","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.beem.2016.02.008_bib37","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ymgme.2005.05.009","article-title":"A\u00a0novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus","volume":"86","author":"Tae","year":"2005","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib38","first-page":"3958","article-title":"Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant","volume":"83","author":"Grant","year":"1998","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib39","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1530\/eje.0.1460649","article-title":"Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene","volume":"146","author":"Rutishauser","year":"2002","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib40","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/sj.ejhg.5201086","article-title":"Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis","volume":"12","author":"Christensen","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.beem.2016.02.008_bib41","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1006\/mgme.1999.2825","article-title":"A\u00a0novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus","volume":"67","author":"Rutishauser","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib42","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1210\/jcem.83.3.4658","article-title":"Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus","volume":"83","author":"Calvo","year":"1998","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib43","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1530\/EJE-11-0048","article-title":"Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene","volume":"165","author":"de Fost","year":"2011","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib44","first-page":"1352","article-title":"Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus","volume":"80","author":"Nagasaki","year":"1995","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib45","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1172\/JCI116494","article-title":"Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus","volume":"91","author":"Ito","year":"1993","journal-title":"J\u00a0Clin Investig"},{"key":"10.1016\/j.beem.2016.02.008_bib46","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1111\/j.1365-2265.2005.02327.x","article-title":"Expression of three different mutations in the arginine vasopressin gene suggests genotype\u2013phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds","volume":"63","author":"Siggaard","year":"2005","journal-title":"Clin Endocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib47","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1530\/EJE-14-0942","article-title":"Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations","volume":"172","author":"Perrotta","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib48","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1046\/j.1365-2265.2003.01834.x","article-title":"Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene","volume":"59","author":"Elias","year":"2003","journal-title":"Clin Endocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib49","first-page":"51","article-title":"Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin\/neurophysin II\/copeptin precursor","volume":"82","author":"Repaske","year":"1997","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib50","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.semnephrol.2006.03.003","article-title":"Familial neurohypophyseal diabetes insipidus \u2013 an update","volume":"26","author":"Christensen","year":"2006","journal-title":"Semin Nephrol"},{"key":"10.1016\/j.beem.2016.02.008_bib51","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1210\/jcem.83.2.4571","article-title":"Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus","volume":"83","author":"Heppner","year":"1998","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib52","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1530\/EJE-10-0823","article-title":"Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene","volume":"164","author":"Brachet","year":"2011","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib53","first-page":"3410","article-title":"Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone","volume":"86","author":"Nijenhuis","year":"2001","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib54","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1056\/NEJM200010053431403","article-title":"Central diabetes insipidus in children and young adults","volume":"343","author":"Maghnie","year":"2000","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2016.02.008_bib55","first-page":"693","article-title":"The effect of phospholipid vesicles on the NMR relaxation of water: an explanation for the MR appearance of the neurohypophysis?","volume":"11","author":"Kucharczyk","year":"1990","journal-title":"Am J Neuroradiol"},{"key":"10.1016\/j.beem.2016.02.008_bib56","first-page":"1749","article-title":"Persistent high MR signal of the posterior pituitary gland in central diabetes insipidus","volume":"18","author":"Maghnie","year":"1997","journal-title":"Am J Neuroradiol"},{"key":"10.1016\/j.beem.2016.02.008_bib57","first-page":"943","article-title":"Frequency and variation of the posterior pituitary bright signal on MR images","volume":"10","author":"Brooks","year":"1989","journal-title":"Am J Neuroradiol"},{"key":"10.1016\/j.beem.2016.02.008_bib58","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1210\/jcem.74.4.1548343","article-title":"Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus","volume":"74","author":"Maghnie","year":"1992","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2016.02.008_bib59","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1007\/s11102-015-0668-z","article-title":"AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus","volume":"18","author":"Turkkahraman","year":"2015","journal-title":"Pituitary"},{"key":"10.1016\/j.beem.2016.02.008_bib60","doi-asserted-by":"crossref","first-page":"18965","DOI":"10.1074\/jbc.274.27.18965","article-title":"Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus","volume":"274","author":"Beuret","year":"1999","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2016.02.008_bib61","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1159\/000023573","article-title":"A\u00a0novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes","volume":"53","author":"Skordis","year":"2000","journal-title":"Hormone Res"},{"key":"10.1016\/j.beem.2016.02.008_bib62","doi-asserted-by":"crossref","first-page":"19441","DOI":"10.1074\/jbc.M310249200","article-title":"Degradation of wild-type vasopressin precursor and pathogenic mutants by the proteasome","volume":"279","author":"Friberg","year":"2004","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2016.02.008_bib63","doi-asserted-by":"crossref","first-page":"3994","DOI":"10.1242\/jcs.051136","article-title":"Dominant pro-vasopressin mutants that cause diabetes insipidus form disulfide-linked fibrillar aggregates in the endoplasmic reticulum","volume":"122","author":"Birk","year":"2009","journal-title":"J\u00a0Cell Sci"},{"key":"10.1016\/j.beem.2016.02.008_bib64","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/BF00305879","article-title":"Hereditary diabetes insipidus: an immunohistochemical study of the hypothalamus and pituitary gland","volume":"81","author":"Bergeron","year":"1991","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.beem.2016.02.008_bib65","doi-asserted-by":"crossref","first-page":"503","DOI":"10.7326\/0003-4819-63-3-503","article-title":"Hereditary idiopathic diabetes insipidus. A case report with autopsy findings","volume":"63","author":"Braverman","year":"1965","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.beem.2016.02.008_bib66","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1172\/JCI119357","article-title":"Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum","volume":"99","author":"Ito","year":"1997","journal-title":"J\u00a0Clin Investig"},{"key":"10.1016\/j.beem.2016.02.008_bib67","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1172\/JCI200318616","article-title":"A\u00a0murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons","volume":"112","author":"Russell","year":"2003","journal-title":"J\u00a0Clin Investig"},{"key":"10.1016\/j.beem.2016.02.008_bib68","doi-asserted-by":"crossref","first-page":"R1641","DOI":"10.1152\/ajpregu.00034.2009","article-title":"Progressive polyuria without vasopressin neuron loss in a mouse model for familial neurohypophysial diabetes insipidus","volume":"296","author":"Hayashi","year":"2009","journal-title":"Am J Physiol Regul Integr Comp Physiol"},{"key":"10.1016\/j.beem.2016.02.008_bib69","doi-asserted-by":"crossref","first-page":"e1148","DOI":"10.1038\/cddis.2014.124","article-title":"Arginine vasopressin neuronal loss results from autophagy-associated cell death in a mouse model for familial neurohypophysial diabetes insipidus","volume":"5","author":"Hagiwara","year":"2014","journal-title":"Cell Death Dis"},{"key":"10.1016\/j.beem.2016.02.008_bib70","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/S1474-4422(07)70076-5","article-title":"Autophagy and neurodegeneration: when the cleaning crew goes on strike","volume":"6","author":"Martinez-Vicente","year":"2007","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.beem.2016.02.008_bib71","doi-asserted-by":"crossref","first-page":"R486","DOI":"10.1152\/ajpregu.00529.2009","article-title":"Activation of vasopressin neurons leads to phenotype progression in a mouse model for familial neurohypophysial diabetes insipidus","volume":"298","author":"Hiroi","year":"2010","journal-title":"Am J Physiol Regul Integr Comp Physiol"},{"key":"10.1016\/j.beem.2016.02.008_bib72","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1046\/j.1365-2826.2002.00822.x","article-title":"Autophagy in hypothalamic neurones of rats expressing a familial neurohypophysial diabetes insipidus transgene","volume":"14","author":"Davies","year":"2002","journal-title":"J\u00a0Neuroendocrinol"},{"key":"10.1016\/j.beem.2016.02.008_bib73","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1096\/fj.99-0892fje","article-title":"Endoplasmic reticulum derangement in hypothalamic neurons of rats expressing a familial neurohypophyseal diabetes insipidus mutant vasopressin transgene","volume":"14","author":"Si-Hoe","year":"2000","journal-title":"FASEB J"},{"key":"10.1016\/j.beem.2016.02.008_bib74","first-page":"341A","article-title":"A\u00a0novel X-linked form of familial neurohypophyseal diabetes insipidus","volume":"44","author":"Habiby","year":"1996","journal-title":"J\u00a0Investig Med"},{"key":"10.1016\/j.beem.2016.02.008_bib75","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1016\/S0140-6736(95)92473-6","article-title":"Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome","volume":"346","author":"Barrett","year":"1995","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2016.02.008_bib76","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/ajmg.a.31809","article-title":"Identification of novel mutations in WFS1 and genotype\u2013phenotype correlation in Wolfram syndrome","volume":"143A","author":"Cano","year":"2007","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.beem.2016.02.008_bib77","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/2441","article-title":"A\u00a0gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)","volume":"20","author":"Inoue","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2016.02.008_bib78","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1093\/hmg\/7.13.2021","article-title":"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein","volume":"7","author":"Strom","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.beem.2016.02.008_bib79","doi-asserted-by":"crossref","first-page":"52755","DOI":"10.1074\/jbc.M310331200","article-title":"Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium","volume":"278","author":"Osman","year":"2003","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2016.02.008_bib80","doi-asserted-by":"crossref","first-page":"39609","DOI":"10.1074\/jbc.M507426200","article-title":"WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells","volume":"280","author":"Fonseca","year":"2005","journal-title":"J\u00a0Biol Chem"}],"container-title":["Best Practice & Research Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X16000130?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X16000130?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:50:45Z","timestamp":1761497445000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X16000130"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":80,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["S1521690X16000130"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2016.02.008","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic forms of neurohypophyseal diabetes insipidus","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2016.02.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}