{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T04:47:50Z","timestamp":1771303670592,"version":"3.50.1"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2003,12,3]],"date-time":"2003-12-03T00:00:00Z","timestamp":1070409600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2004,1]]},"DOI":"10.1038\/sj.ejhg.5201086","type":"journal-article","created":{"date-parts":[[2003,12,15]],"date-time":"2003-12-15T10:44:47Z","timestamp":1071485087000},"page":"44-51","source":"Crossref","is-referenced-by-count":38,"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"],"prefix":"10.1038","volume":"12","author":[{"given":"Jane H","family":"Christensen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Siggaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas J","family":"Corydon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"deSanctis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laszlo","family":"Kovacs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary L","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Gregersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00f8ren","family":"Rittig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2003,12,3]]},"reference":[{"key":"BF5201086_CR1","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/S1043-2760(97)00157-4","volume":"8","author":"LK Hansen","year":"1997","unstructured":"Hansen LK, Rittig S, Robertson GL : Genetic basis of familial neurohypophyseal diabetes insipidus. Trends Endocrinol Metab 1997; 8: 363\u2013372.","journal-title":"Trends Endocrinol Metab"},{"key":"BF5201086_CR2","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1016\/S0889-8529(18)30031-8","volume":"24","author":"GL Robertson","year":"1995","unstructured":"Robertson GL : Diabetes insipidus. Endocrinol Metab Clin North Am 1995; 24: 549\u2013572.","journal-title":"Endocrinol Metab Clin North Am"},{"key":"BF5201086_CR3","doi-asserted-by":"publisher","first-page":"599A","DOI":"10.1210\/jcem.77.3.8370682","volume":"77","author":"JF McLeod","year":"1993","unstructured":"McLeod JF, Kovacs L, Gaskill MB, Rittig S, Bradley GS, Robertson GL : Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation (see comments). J Clin Endocrinol Metab 1993; 77: 599A\u2013599G.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR4","first-page":"870","volume":"87","author":"CP Mahoney","year":"2002","unstructured":"Mahoney CP, Weinberger E, Bryant C, Ito M, Jameson JL, Ito M : Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. J Clin Endocrinol Metab 2002; 87: 870\u2013876.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR5","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1093\/brain\/90.3.707","volume":"90","author":"JR Green","year":"1967","unstructured":"Green JR, Buchan GC, Alvord ECJ, Swanson AG : Hereditary and idiopathic types of diabetes insipidus. Brain 1967; 90: 707\u2013714.","journal-title":"Brain"},{"key":"BF5201086_CR6","doi-asserted-by":"publisher","first-page":"503","DOI":"10.7326\/0003-4819-63-3-503","volume":"63","author":"LE Braverman","year":"1965","unstructured":"Braverman LE, Mancini JP, McGoldrick DM : Hereditary idiopathic diabetes insipidus. A case report with autopsy findings. Ann Intern Med 1965; 63: 503\u2013508.","journal-title":"Ann Intern Med"},{"key":"BF5201086_CR7","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1007\/BF00305879","volume":"81","author":"C Bergeron","year":"1991","unstructured":"Bergeron C, Kovacs K, Ezrin C, Mizzen C : Hereditary diabetes insipidus: an immunohistochemical study of the hypothalamus and pituitary gland. Acta Neuropathol 1991; 81: 345\u2013348.","journal-title":"Acta Neuropathol"},{"key":"BF5201086_CR8","first-page":"941","volume":"144","author":"EL van den Akker","year":"2000","unstructured":"van den Akker EL, de Groot MR, Abbes AP, Bruggeman EJ, Franken AA, Engel H : Identification of a new mutation (CysII6Gly) in a family with neurogenic diabetes insipidus. Ned Tijdschr Geneeskd 2000; 144: 941\u2013945.","journal-title":"Ned Tijdschr Geneeskd"},{"key":"BF5201086_CR9","first-page":"105","volume":"2","author":"NQ Goking","year":"2001","unstructured":"Goking NQ, Chertow BS, Robertson GL, Rittig S, Siggaard C, Pedersen EB : A novel AVP-neurophysin gene mutation in familial neurohypophyseal diabetes insipidus presenting with nocturnal enuresis. J Endocr Genet 2001; 2: 105\u2013113.","journal-title":"J Endocr Genet"},{"key":"BF5201086_CR10","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1055\/s-2002-29091","volume":"110","author":"C Bullmann","year":"2002","unstructured":"Bullmann C, Kotzka J, Grimm T et al: Identification of a novel mutation in the arginine vasopressin\u2013neurophysin II gene in familial central diabetes insipidus. Exp Clin Endocrinol Diabetes 2002; 110: 134\u2013137.","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"BF5201086_CR11","doi-asserted-by":"publisher","first-page":"1063","DOI":"10.1007\/s00467-002-0985-0","volume":"17","author":"N Kanemitsu","year":"2002","unstructured":"Kanemitsu N, Kawauchi A, Nishida M et al: Familial central diabetes insipidus detected by nocturnal enuresis. Pediatr Nephrol 2002; 17: 1063\u20131065.","journal-title":"Pediatr Nephrol"},{"key":"BF5201086_CR12","doi-asserted-by":"publisher","first-page":"3351","DOI":"10.1210\/jcem.87.7.8677","volume":"87","author":"S Rittig","year":"2002","unstructured":"Rittig S, Siggaard C, Ozata M et al: Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor. J Clin Endocrinol Metab 2002; 87: 3351\u20133355.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR13","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1530\/eje.0.1460649","volume":"146","author":"J Rutishauser","year":"2002","unstructured":"Rutishauser J, Kopp P, Gaskill MB, Kotlar TJ, Robertson GL : Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin\u2013neurophysin II gene. Eur J Endocrinol 2002; 146: 649\u2013656.","journal-title":"Eur J Endocrinol"},{"key":"BF5201086_CR14","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/S1096-7192(02)00118-X","volume":"77","author":"J Santiprabhob","year":"2002","unstructured":"Santiprabhob J, Browning J, Repaske D : A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. Mol Genet Metab 2002; 77: 112\u2013118.","journal-title":"Mol Genet Metab"},{"key":"BF5201086_CR15","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1046\/j.1365-2265.2003.01667.x","volume":"58","author":"WL Boson","year":"2003","unstructured":"Boson WL, Sarubi JC, D'Alva CB et al: A signal peptide mutation of the arginine vasopressin gene in monozygotic twins. Clin Endocrinol (Oxf) 2003; 58: 108\u2013110.","journal-title":"Clin Endocrinol (Oxf)"},{"key":"BF5201086_CR16","doi-asserted-by":"crossref","first-page":"10236","DOI":"10.1016\/S0021-9258(17)39236-0","volume":"260","author":"E Sausville","year":"1985","unstructured":"Sausville E, Carney D, Battey J : The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line. J Biol Chem 1985; 260: 10236\u201310241.","journal-title":"J Biol Chem"},{"key":"BF5201086_CR17","first-page":"107","volume":"58","author":"S Rittig","year":"1996","unstructured":"Rittig S, Robertson GL, Siggaard C et al: Identification of 13 new mutations in the vasopressin\u2013neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet 1996; 58: 107\u2013117.","journal-title":"Am J Hum Genet"},{"key":"BF5201086_CR18","doi-asserted-by":"publisher","first-page":"29671","DOI":"10.1074\/jbc.M103477200","volume":"276","author":"S Eubanks","year":"2001","unstructured":"Eubanks S, Nguyen TL, Deeb R, Villafania A, Alfadhli A, Breslow E : Effects of diabetes insipidus mutations on neurophysin folding and function. J Biol Chem 2001; 276: 29671\u201329680.","journal-title":"J Biol Chem"},{"key":"BF5201086_CR19","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1083\/jcb.126.1.41","volume":"126","author":"C Hammond","year":"1994","unstructured":"Hammond C, Helenius A : Quality control in the secretory pathway: retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus. J Cell Biol 1994; 126: 41\u201352.","journal-title":"J Cell Biol"},{"key":"BF5201086_CR20","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1016\/S0959-440X(98)80148-6","volume":"8","author":"ES Trombetta","year":"1998","unstructured":"Trombetta ES, Helenius A : Lectins as chaperones in glycoprotein folding. Curr Opin Struct Biol 1998; 8: 587\u2013592.","journal-title":"Curr Opin Struct Biol"},{"key":"BF5201086_CR21","doi-asserted-by":"publisher","first-page":"1882","DOI":"10.1126\/science.286.5446.1882","volume":"286","author":"L Ellgaard","year":"1999","unstructured":"Ellgaard L, Molinari M, Helenius A : Setting the standards: quality control in the secretory pathway. Science 1999; 286: 1882\u20131888.","journal-title":"Science"},{"key":"BF5201086_CR22","first-page":"593","volume-title":"Neurohypophysis: recent progress of vasopressin and oxytocin research","author":"GL Robertson","year":"1995","unstructured":"Robertson GL, Rittig S, Gu WX et al: Pathogenesis and pathophysiology of familial neurohypophyseal diabetes insipidus; in Saito T, Kurokawa K, Yoshida S (eds): Neurohypophysis: recent progress of vasopressin and oxytocin research. Amsterdam: Elsevier Science B.V., 1995, pp 593\u2013603."},{"key":"BF5201086_CR23","doi-asserted-by":"publisher","first-page":"1897","DOI":"10.1172\/JCI119357","volume":"99","author":"M Ito","year":"1997","unstructured":"Ito M, Jameson JL : Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. J Clin Invest 1997; 99: 1897\u20131905.","journal-title":"J Clin Invest"},{"key":"BF5201086_CR24","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1089\/dna.1996.15.929","volume":"15","author":"G Olias","year":"1996","unstructured":"Olias G, Richter D, Schmale H : Heterologous expression of human vasopressin\u2013neurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus. DNA Cell Biol 1996; 15: 929\u2013935.","journal-title":"DNA Cell Biol"},{"key":"BF5201086_CR25","doi-asserted-by":"publisher","first-page":"18965","DOI":"10.1074\/jbc.274.27.18965","volume":"274","author":"N Beuret","year":"1999","unstructured":"Beuret N, Rutishauser J, Bider MD, Spiess M : Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus. J Biol Chem 1999; 274: 18965\u201318972.","journal-title":"J Biol Chem"},{"key":"BF5201086_CR26","doi-asserted-by":"publisher","first-page":"21200","DOI":"10.1074\/jbc.274.30.21200","volume":"274","author":"M Nijenhuis","year":"1999","unstructured":"Nijenhuis M, Zalm R, Burbach JP : Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting. J Biol Chem 1999; 274: 21200\u201321208.","journal-title":"J Biol Chem"},{"key":"BF5201086_CR27","first-page":"2933","volume":"84","author":"C Siggaard","year":"1999","unstructured":"Siggaard C, Rittig S, Corydon TJ et al: Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J Clin Endocrinol Metab 1999; 84: 2933\u20132941.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR28","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/S0303-7207(00)00288-4","volume":"167","author":"M Nijenhuis","year":"2000","unstructured":"Nijenhuis M, Zalm R, Burbach JP : A diabetes insipidus vasopressin prohormone altered outside the central core of neurophysin accumulates in the endoplasmic reticulum. Mol Cell Endocrinol 2000; 167: 55\u201367.","journal-title":"Mol Cell Endocrinol"},{"key":"BF5201086_CR29","doi-asserted-by":"publisher","first-page":"1680","DOI":"10.1096\/fj.99-0892fje","volume":"14","author":"S Si-Hoe","year":"2000","unstructured":"Si-Hoe S, de Bree FM, Nijenhuis M et al: Endoplasmic reticulum derangement in hypothalamic neurons of rats expressing a familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. FASEB J 2000; 14: 1680\u20131684.","journal-title":"FASEB J"},{"key":"BF5201086_CR30","first-page":"3410","volume":"86","author":"M Nijenhuis","year":"2001","unstructured":"Nijenhuis M, van den Akker EL, Zalm R et al: 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. J Clin Endocrinol Metab 2001; 86: 3410\u20133420.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR31","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1046\/j.1365-2826.2002.00822.x","volume":"14","author":"J Davies","year":"2002","unstructured":"Davies J, Murphy D : Autophagy in hypothalamic neurones of rats expressing a familial neurohypophysial diabetes insipidus transgene. J Neuroendocrinol 2002; 14: 629\u2013637.","journal-title":"J Neuroendocrinol"},{"key":"BF5201086_CR32","first-page":"600","volume":"77","author":"H Yuasa","year":"1993","unstructured":"Yuasa H, Ito M, Nagasaki H et al: Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus (see comments). J Clin Endocrinol Metab 1993; 77: 600\u2013604.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR33","doi-asserted-by":"publisher","first-page":"2565","DOI":"10.1172\/JCI116494","volume":"91","author":"M Ito","year":"1993","unstructured":"Ito M, Oiso Y, Murase T et al: Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus. J Clin Invest 1993; 91: 2565\u20132571.","journal-title":"J Clin Invest"},{"key":"BF5201086_CR34","first-page":"600","volume-title":"Vasopressin","author":"S Rittig","year":"1993","unstructured":"Rittig S, Kovacs L, Gregersen N, Robertson GL : Familial neurogenic diabetes insipidus in 5 Danish kindreds; in Gross P, Richter D, Robertson GL (eds): Vasopressin. Paris: John Libbey Eurotext, 1993, pp 600."},{"key":"BF5201086_CR35","first-page":"2328","volume":"81","author":"DR Repaske","year":"1996","unstructured":"Repaske DR, Summar ML, Krishnamani MR et al.: Recurrent mutations in the vasopressin\u2013neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 1996; 81: 2328\u20132334.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR36","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1210\/jcem.83.3.4658","volume":"83","author":"B Calvo","year":"1998","unstructured":"Calvo B, Bilbao JR, Urrutia I, Eizaguirre J, Gaztambide S, Castano L : Identification of a novel nonsense mutation and a missense substitution in the vasopressin\u2013neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 1998; 83: 995\u2013997.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR37","first-page":"51","volume":"82","author":"DR Repaske","year":"1997","unstructured":"Repaske DR, Medlej R, Gultekin EK et al: Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1 \u2192 Val in the signal peptide of the arginine vasopressin\/neurophysin II\/copeptin precursor. J Clin Endocrinol Metab 1997; 82: 51\u201356.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR38","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1210\/jcem.83.2.4571","volume":"83","author":"C Heppner","year":"1998","unstructured":"Heppner C, Kotzka J, Bullmann C, Krone W, Muller-Wieland D : Identification of mutations of the arginine vasopressin\u2013neurophysin II gene in two kindreds with familial central diabetes insipidus. J Clin Endocrinol Metab 1998; 83: 693\u2013696.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR39","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1055\/s-2001-18994","volume":"109","author":"J Mundschenk","year":"2001","unstructured":"Mundschenk J, Rittig S, Siggaard C, Hensen J, Lehnert H : A new mutation of the arginine vasopressin\u2013neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus. Exp Clin Endocrinol Diabetes 2001; 109: 406\u2013409.","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"BF5201086_CR40","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1172\/JCI115052","volume":"87","author":"M Ito","year":"1991","unstructured":"Ito M, Mori Y, Oiso Y, Saito H : A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest 1991; 87: 725\u2013728.","journal-title":"J Clin Invest"},{"key":"BF5201086_CR41","doi-asserted-by":"publisher","first-page":"4240","DOI":"10.1073\/pnas.88.10.4240","volume":"88","author":"LQ Chen","year":"1991","unstructured":"Chen LQ, Rose JP, Breslow E et al: Crystal structure of a bovine neurophysin II dipeptide complex at 2.8 A determined from the single-wavelength anomalous scattering signal of an incorporated iodine atom. Proc Natl Acad Sci USA 1991; 88: 4240\u20134244.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201086_CR42","first-page":"192","volume":"81","author":"J Rutishauser","year":"1996","unstructured":"Rutishauser J, Boni-Schnetzler M, Boni J et al: A novel point mutation in the translation initiation codon of the pre- pro-vasopressin\u2013neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 1996; 81: 192\u2013198.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR43","doi-asserted-by":"publisher","first-page":"3565","DOI":"10.1021\/bi00556a023","volume":"19","author":"P Nicolas","year":"1980","unstructured":"Nicolas P, Batelier G, Rholam M, Cohen P : Bovine neurophysin dimerization and neurohypophyseal hormone binding. Biochemistry 1980; 19: 3565\u20133573.","journal-title":"Biochemistry"},{"key":"BF5201086_CR44","doi-asserted-by":"crossref","first-page":"8474","DOI":"10.1016\/S0021-9258(17)39497-8","volume":"260","author":"T Kanmera","year":"1985","unstructured":"Kanmera T, Chaiken IM : Molecular properties of the oxytocin\/bovine neurophysin biosynthetic precursor. Studies using a semisynthetic precursor. J Biol Chem 1985; 260: 8474\u20138482.","journal-title":"J Biol Chem"},{"key":"BF5201086_CR45","first-page":"1","volume":"63","author":"E Breslow","year":"1990","unstructured":"Breslow E, Burman S : Molecular, thermodynamic, and biological aspects of recognition and function in neurophysin-hormone systems: a model system for the analysis of protein-peptide interactions. Adv Enzymol Relat Areas Mol Biol 1990; 63: 1\u201367.","journal-title":"Adv Enzymol Relat Areas Mol Biol"},{"key":"BF5201086_CR46","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1038\/nsb0296-163","volume":"3","author":"JP Rose","year":"1996","unstructured":"Rose JP, Wu CK, Hsiao CD, Breslow E, Wang BC : Crystal structure of the neurophysin\u2013oxytocin complex. Nat Struct Biol 1996; 3: 163\u2013169.","journal-title":"Nat Struct Biol"},{"key":"BF5201086_CR47","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1023\/A:1022564803093","volume":"18","author":"FM de Bree","year":"1998","unstructured":"de Bree FM, Burbach JP : Structure\u2013function relationships of the vasopressin prohormone domains. Cell Mol Neurobiol 1998; 18: 173\u2013191.","journal-title":"Cell Mol Neurobiol"},{"key":"BF5201086_CR48","first-page":"173","volume":"19","author":"PS Kim","year":"1998","unstructured":"Kim PS, Arvan P : Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: disorders of protein trafficking and the role of ER molecular chaperones. Endocr Rev 1998; 19: 173\u2013202.","journal-title":"Endocr Rev"},{"key":"BF5201086_CR49","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/BF01868635","volume":"115","author":"G von Heijne","year":"1990","unstructured":"von Heijne G : The signal peptide. J Membr Biol 1990; 115: 195\u2013201.","journal-title":"J Membr Biol"},{"key":"BF5201086_CR50","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1046\/j.1365-2265.1996.628449.x","volume":"44","author":"F Rauch","year":"1996","unstructured":"Rauch F, Lenzner C, Nurnberg P, Frommel C, Vetter U : A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus. Clin Endocrinol (Oxf) 1996; 44: 45\u201351.","journal-title":"Clin Endocrinol (Oxf)"},{"key":"BF5201086_CR51","first-page":"1787","volume":"81","author":"Y Ueta","year":"1996","unstructured":"Ueta Y, Taniguchi S, Yoshida A et al: 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 1996; 81: 1787\u20131790.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF5201086_CR52","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1507\/endocrj.48.459","volume":"48","author":"T Kubota","year":"2001","unstructured":"Kubota T, Yamamoto T, Ozono K, Shimotsuji T : Hyperintensity of posterior pituitary on MR T1WI in a boy with central diabetes insipidus caused by missense mutation of neurophysin II gene. Endocr J 2001; 48: 459\u2013463.","journal-title":"Endocr J"},{"key":"BF5201086_CR53","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1093\/clinchem\/46.10.1699","volume":"46","author":"AP Abbes","year":"2000","unstructured":"Abbes AP, Bruggeman B, van den Akker EL et al: Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin\u2013neurophysin II gene (AVP\u2013NP II) in two Dutch families with familial neurohypophyseal diabetes insipidus. Clin Chem 2000; 46: 1699\u20131702.","journal-title":"Clin Chem"},{"key":"BF5201086_CR54","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/0167-0115(93)90175-8","volume":"45","author":"E Breslow","year":"1993","unstructured":"Breslow E : Structure and folding properties of neurophysin and its peptide complexes: biological implications. Regul Pept 1993; 45: 15\u201319.","journal-title":"Regul Pept"},{"key":"BF5201086_CR55","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O","volume":"11","author":"SE Antonarakis","year":"1998","unstructured":"Antonarakis SE : Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998; 11: 1\u20133.","journal-title":"Hum Mutat"},{"key":"BF5201086_CR56","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","volume":"15","author":"JT den Dunnen","year":"2000","unstructured":"den Dunnen JT, Antonarakis SE : Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7\u201312.","journal-title":"Hum Mutat"},{"key":"BF5201086_CR57","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.1093\/hmg\/8.7.1303","volume":"8","author":"MD Willcutts","year":"1999","unstructured":"Willcutts MD, Felner E, White PC : Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Hum Mol Genet 1999; 8: 1303\u20131307.","journal-title":"Hum Mol Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201086.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201086","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201086.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:30:18Z","timestamp":1684373418000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201086"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,12,3]]},"references-count":57,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["BF5201086"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201086","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,12,3]]}}}