{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T05:05:53Z","timestamp":1793423153793,"version":"4.5.0"},"reference-count":88,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,5]],"date-time":"2023-12-05T00:00:00Z","timestamp":1701734400000},"content-version":"am","delay-in-days":338,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100002738","name":"Assistance Publique - Hopitaux de Paris","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002738","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular and Cellular Endocrinology"],"published-print":{"date-parts":[[2023,1]]},"DOI":"10.1016\/j.mce.2022.111825","type":"journal-article","created":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T02:23:19Z","timestamp":1669774999000},"page":"111825","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"special_numbering":"C","title":["Genetic basis of nephrogenic diabetes insipidus"],"prefix":"10.1016","volume":"560","author":[{"given":"Marguerite","family":"Hureaux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4169-0680","authenticated-orcid":false,"given":"Rosa","family":"Vargas-Poussou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.mce.2022.111825_bib1","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1681\/ASN.V9101861","article-title":"Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype","volume":"9","author":"Ala","year":"1998","journal-title":"J. Am. Soc. Nephrol."},{"issue":"8","key":"10.1016\/j.mce.2022.111825_bib2","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1136\/adc.49.8.654","article-title":"DDAVP test for estimation of renal concentrating capacity in infants and children","volume":"49","author":"Aronson","year":"1974","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.mce.2022.111825_bib3","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1681\/ASN.V1161044","article-title":"Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrognicdiabetes insipidus","volume":"11","author":"Arthus","year":"2000","journal-title":"J. Am. Soc. Nephrol."},{"issue":"4","key":"10.1016\/j.mce.2022.111825_bib4","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1016\/j.kint.2017.10.016","article-title":"Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies","volume":"93","author":"Ashton","year":"2018","journal-title":"Kidney Int."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib5","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1159\/000439065","article-title":"Sildenafil for the treatment of congenital nephrogenic diabetes insipidus","volume":"42","author":"Assadi","year":"2015","journal-title":"Am. J. Nephrol."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib6","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1073\/pnas.98.1.93","article-title":"Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus","volume":"98","author":"Barak","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"7","key":"10.1016\/j.mce.2022.111825_bib7","article-title":"Effects of sildenafil, metformin, and simvastatin on ADH-independent urine concentration in healthy volunteers","volume":"6","author":"Bech","year":"2018","journal-title":"Phys. Rep."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib8","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1681\/ASN.2005080854","article-title":"Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus [published correction appears in J Am Soc Nephrol. 2006 Feb;17(2):591. Dosage error in article text]","volume":"17","author":"Bernier","year":"2006","journal-title":"J. Am. Soc. Nephrol."},{"issue":"2","key":"10.1016\/j.mce.2022.111825_bib9","doi-asserted-by":"crossref","first-page":"R29","DOI":"10.1530\/EJE-20-0114","article-title":"Genetics in Endocrinology Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus","volume":"183","author":"Bichet","year":"2020","journal-title":"Eur. J. Endocrinol."},{"issue":"2","key":"10.1016\/j.mce.2022.111825_bib10","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.beem.2016.02.010","article-title":"Genetic forms of nephrogenic diabetes insipidus (NDI): vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant)","volume":"30","author":"Bichet","year":"2016","journal-title":"Best Pract. Res. Clin. Endocrinol. Metabol."},{"key":"10.1016\/j.mce.2022.111825_bib11","doi-asserted-by":"crossref","DOI":"10.1172\/JCI116698","article-title":"X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypo-thesis","volume":"92","author":"Bichet","year":"1993","journal-title":"J. Clin. Invest."},{"issue":"2","key":"10.1016\/j.mce.2022.111825_bib12","first-page":"278","article-title":"Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus","volume":"55","author":"Bichet","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mce.2022.111825_bib13","doi-asserted-by":"crossref","DOI":"10.1681\/ASN.V8121951","article-title":"Congenital nephrogenic diabetes insipidus","volume":"8","author":"Bichet","year":"1997","journal-title":"J. Am. Soc. Nephrol."},{"issue":"7","key":"10.1016\/j.mce.2022.111825_bib14","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1016\/S0092-8674(05)80056-X","article-title":"Receptor-to-effector signaling through G proteins: roles for beta gamma dimers as well as alpha subunits","volume":"71","author":"Birnbaumer","year":"1992","journal-title":"Cell"},{"issue":"6376","key":"10.1016\/j.mce.2022.111825_bib15","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/357333a0","article-title":"Molecular cloning of the receptor for human antidiuretic hormone","volume":"357","author":"Birnbaumer","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.mce.2022.111825_bib16","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/nrneph.2015.89","article-title":"Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus","volume":"11","author":"Bockenhauer","year":"2015","journal-title":"Nat. Rev. Nephrol."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib17","doi-asserted-by":"crossref","first-page":"p1","DOI":"10.1159\/000245059","article-title":"Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus","volume":"114","author":"Bockenhauer","year":"2010","journal-title":"Nephron. Physiol."},{"issue":"2","key":"10.1016\/j.mce.2022.111825_bib18","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1007\/s100380200002","article-title":"Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients","volume":"47","author":"Chen","year":"2002","journal-title":"J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.mce.2022.111825_bib19","doi-asserted-by":"crossref","first-page":"3105","DOI":"10.1681\/ASN.2015080903","article-title":"EGF receptor inhibition by erlotinib increases aquaporin 2-mediated renal water reabsorption","volume":"27","author":"Cheung","year":"2016","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.mce.2022.111825_bib20","series-title":"Clinical Paediatric Dietetics, Ed 2, Oxford","article-title":"Diseases of organ system: the kidney","author":"Coleman","year":"2001"},{"issue":"4665","key":"10.1016\/j.mce.2022.111825_bib21","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1038\/183891a0","article-title":"Chlorothiazid in diabetes insipidus","volume":"183","author":"Crawford","year":"1959","journal-title":"Nature"},{"key":"10.1016\/j.mce.2022.111825_bib22","series-title":"Diagnostics of Endocrine Function in Children and Adolescents, Ed 4. Basel","first-page":"194","author":"Czernichow","year":"2011"},{"key":"10.1016\/j.mce.2022.111825_bib23","doi-asserted-by":"crossref","first-page":"550","DOI":"10.3389\/fped.2019.00550","article-title":"Diagnosis, treatment, and Outcomes in children with congenital nephrogenic diabetes insipidus: a pediatric Nephrology research consortium study","volume":"7","author":"D'Alessandri-Silva","year":"2020","journal-title":"Front Pediatr"},{"key":"10.1016\/j.mce.2022.111825_bib24","doi-asserted-by":"crossref","first-page":"3045","DOI":"10.1093\/hmg\/ddh339","article-title":"A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L","volume":"13","author":"De Mattia","year":"2004","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib25","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1097\/00041552-199801000-00007","article-title":"Physiology and pathophysiology of the aquaporin-2 water channel","volume":"7","author":"Deen","year":"1998","journal-title":"Curr. Opin. Nephrol. Hypertens."},{"issue":"5155","key":"10.1016\/j.mce.2022.111825_bib26","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"},{"issue":"5","key":"10.1016\/j.mce.2022.111825_bib27","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1002\/ajmg.a.61516","article-title":"A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: case report and review of the literature","volume":"182","author":"Ding","year":"2020","journal-title":"Am. J. Med. Genet."},{"issue":"11","key":"10.1016\/j.mce.2022.111825_bib28","doi-asserted-by":"crossref","first-page":"1988","DOI":"10.1172\/JCI104657","article-title":"The mechanism of antidiuresis associated with the administration of hydrochlorothiazide to patients with vasopressin-resistant diabetes insipidus","volume":"41","author":"Earley","year":"1962","journal-title":"J. Clin. Invest."},{"issue":"5 Pt 2","key":"10.1016\/j.mce.2022.111825_bib29","first-page":"F663","article-title":"Aquaporin-3 water channel localization and regulation in rat kidney","volume":"269","author":"Ecelbarger","year":"1995","journal-title":"Am. J. Physiol."},{"issue":"11","key":"10.1016\/j.mce.2022.111825_bib30","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.88409","article-title":"Metformin improves urine concentration in rodents with nephrogenic diabetes insipidus","volume":"1","author":"Efe","year":"2016","journal-title":"JCI Insight"},{"issue":"52","key":"10.1016\/j.mce.2022.111825_bib31","doi-asserted-by":"crossref","first-page":"40777","DOI":"10.1074\/jbc.M110.151928","article-title":"Phosphorylation of aquaporin-2 regulates its water permeability","volume":"285","author":"Eto","year":"2010","journal-title":"J. Biol. Chem."},{"issue":"3","key":"10.1016\/j.mce.2022.111825_bib32","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1111\/j.1365-2265.2007.03054.x","article-title":"Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene","volume":"68","author":"Faerch","year":"2008","journal-title":"Clin. Endocrinol."},{"issue":"6","key":"10.1016\/j.mce.2022.111825_bib33","doi-asserted-by":"crossref","first-page":"F1518","DOI":"10.1152\/ajprenal.00331.2009","article-title":"Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus","volume":"297","author":"Faerch","year":"2009","journal-title":"Am. J. Physiol. Ren. Physiol."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib34","doi-asserted-by":"crossref","first-page":"C1","DOI":"10.1152\/ajpcell.00150.2020","article-title":"Advances in Aquaporin-2 trafficking mechanisms and their implications for treatment of water balance disorders","volume":"319","author":"Fenton","year":"2020","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"10.1016\/j.mce.2022.111825_bib35","article-title":"On the mode of hereditary transmission in diabetes insipidus","volume":"16","author":"Forsman","year":"1942","journal-title":"Nordisc Medecin"},{"key":"10.1016\/j.mce.2022.111825_bib36","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1146\/annurev.med.46.1.331","article-title":"Molecular biology of diabetes insipidus","volume":"46","author":"Fujiwara","year":"1995","journal-title":"Annu. Rev. Med."},{"issue":"12","key":"10.1016\/j.mce.2022.111825_bib37","doi-asserted-by":"crossref","first-page":"10379","DOI":"10.1074\/jbc.M111880200","article-title":"Long term regulation of aquaporin-2 expression in vasopressin-responsive renal collecting duct principal cells","volume":"277","author":"Hasler","year":"2002","journal-title":"J. Biol. Chem."},{"issue":"28","key":"10.1016\/j.mce.2022.111825_bib38","doi-asserted-by":"crossref","first-page":"16602","DOI":"10.1074\/jbc.270.28.16602","article-title":"A conserved NPLFY sequence contributes to agonist binding and signal transduction but is not an internalization signal for the type 1 angiotensin II receptor","volume":"270","author":"Hunyady","year":"1995","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib39","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1210\/jcem.86.1.7165","article-title":"The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus","volume":"86","author":"Inaba","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"10","key":"10.1016\/j.mce.2022.111825_bib40","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1681\/ASN.2008121289","article-title":"Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus","volume":"20","author":"Jean-Alphonse","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"issue":"5","key":"10.1016\/j.mce.2022.111825_bib41","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1083\/jcb.200309017","article-title":"Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus","volume":"163","author":"Kamsteeg","year":"2003","journal-title":"J. Cell Biol."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib42","first-page":"227","article-title":"Nephrogenic diabetes insipidus","volume":"66","author":"Kavanagh","year":"2019","journal-title":"Pediatr. Clin."},{"issue":"3","key":"10.1016\/j.mce.2022.111825_bib43","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.semnephrol.2006.03.004","article-title":"Acquired nephrogenic diabetes insipidus","volume":"26","author":"Khanna","year":"2006","journal-title":"Semin. Nephrol."},{"issue":"6","key":"10.1016\/j.mce.2022.111825_bib44","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1136\/adc.80.6.548","article-title":"Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride","volume":"80","author":"Kirchlechner","year":"1999","journal-title":"Arch. Dis. Child."},{"issue":"8","key":"10.1016\/j.mce.2022.111825_bib45","doi-asserted-by":"crossref","first-page":"4934","DOI":"10.1074\/jbc.274.8.4934","article-title":"Protein kinase A anchoring proteins are required for vasopressin-mediated translocation of aquaporin-2 into cell membranes of renal principal cells","volume":"274","author":"Klussmann","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mce.2022.111825_bib46","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1086\/323643","article-title":"Three families with autosomal dominant nephrogenic diabetes insipidus caused byaquaporin-2 mutations in the C-terminus","volume":"69","author":"Kuwahara","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mce.2022.111825_bib47","first-page":"1","article-title":"Treatment and long-term outcome in primary nephrogenic diabetes insipidus","author":"Lopez-Garcia","year":"2020","journal-title":"Nephrol. Dial. Transplant."},{"issue":"5","key":"10.1016\/j.mce.2022.111825_bib48","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1111\/j.1365-2826.2010.01983.x","article-title":"Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus","volume":"22","author":"Los","year":"2010","journal-title":"J. Neuroendocrinol."},{"issue":"12","key":"10.1016\/j.mce.2022.111825_bib49","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1093\/ndt\/15.12.1903","article-title":"New insights into the paradoxical effect of thiazides in diabetes insipidus therapy","volume":"15","author":"Magaldi","year":"2000","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.mce.2022.111825_bib50","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/bs.vh.2019.08.012","article-title":"V2 vasopressin receptor mutations","volume":"113","author":"Makita","year":"2020","journal-title":"Vitam. Horm."},{"issue":"9","key":"10.1016\/j.mce.2022.111825_bib51","doi-asserted-by":"crossref","first-page":"2267","DOI":"10.1097\/01.ASN.0000027355.41663.14","article-title":"Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus","volume":"13","author":"Marr","year":"2002","journal-title":"J. Am. Soc. Nephrol."},{"issue":"11","key":"10.1016\/j.mce.2022.111825_bib52","doi-asserted-by":"crossref","first-page":"2385","DOI":"10.3390\/ijms18112385","article-title":"Hereditary nephrogenic diabetes insipidus: pathophysiology and possible treatment. An update","volume":"18","author":"Milano","year":"2017","journal-title":"Int. J. Mol. Sci."},{"issue":"2","key":"10.1016\/j.mce.2022.111825_bib53","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1210\/er.2012-1044","article-title":"Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment","volume":"34","author":"Moeller","year":"2013","journal-title":"Endocr. Rev."},{"issue":"7","key":"10.1016\/j.mce.2022.111825_bib54","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1172\/JCI8688","article-title":"Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants","volume":"105","author":"Morello","year":"2000","journal-title":"J. Clin. Invest."},{"issue":"23","key":"10.1016\/j.mce.2022.111825_bib55","doi-asserted-by":"crossref","first-page":"6766","DOI":"10.1021\/bi002699r","article-title":"Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus","volume":"40","author":"Morello","year":"2001","journal-title":"Biochemistry"},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib56","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1172\/JCI2605","article-title":"An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex","volume":"102","author":"Mulders","year":"1998","journal-title":"J. Clin. Invest."},{"issue":"3","key":"10.1016\/j.mce.2022.111825_bib57","first-page":"158","article-title":"Novel mutation in the AVPR2 gene in a Danish male with nephrogenic diabetes insipidus caused by ER retention and subsequent lysosomal degradation of the mutant receptor","volume":"4","author":"Nejsum","year":"2011","journal-title":"NDT Plus"},{"issue":"7","key":"10.1016\/j.mce.2022.111825_bib58","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.metabol.2012.01.005","article-title":"Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature","volume":"61","author":"Neocleous","year":"2012","journal-title":"Metabolism"},{"key":"10.1016\/j.mce.2022.111825_bib59","first-page":"247","article-title":"Nephrogenic diabetes insipidus: clinical and pathophysiological aspects","volume":"13","author":"Niaudet","year":"1984","journal-title":"Adv. Nephrol. Necker. Hosp."},{"issue":"3","key":"10.1016\/j.mce.2022.111825_bib60","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1111\/imj.13627","article-title":"Polyuria-polydipsia syndrome: a diagnostic challenge","volume":"48","author":"Nigro","year":"2018","journal-title":"Intern. Med. J."},{"issue":"10","key":"10.1016\/j.mce.2022.111825_bib61","doi-asserted-by":"crossref","first-page":"3434","DOI":"10.1210\/jcem.82.10.4312","article-title":"Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation","volume":"82","author":"Nomura","year":"1997","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"6","key":"10.1016\/j.mce.2022.111825_bib62","doi-asserted-by":"crossref","first-page":"F1303","DOI":"10.1152\/ajprenal.00665.2010","article-title":"COX-2 disruption leads to increased central vasopressin stores and impaired urine concentrating ability in mice","volume":"301","author":"N\u00f8rregaard","year":"2011","journal-title":"Am. J. Physiol. Ren. Physiol."},{"issue":"4","key":"10.1016\/j.mce.2022.111825_bib63","first-page":"1703","article-title":"Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families","volume":"85","author":"Pasel","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"10","key":"10.1016\/j.mce.2022.111825_bib64","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1007\/s00467-003-1195-0","article-title":"Treatment of congenital nephrogenic diabetes insipidus by hydrochlorothiazide and cyclooxygenase-2 inhibitor","volume":"18","author":"Pattaragarn","year":"2003","journal-title":"Pediatr. Nephrol."},{"issue":"5","key":"10.1016\/j.mce.2022.111825_bib65","doi-asserted-by":"crossref","DOI":"10.1016\/j.beem.2020.101440","article-title":"Central diabetes insipidus in children: diagnosis and management","volume":"34","author":"Patti","year":"2020","journal-title":"Best Pract. Res. Clin. Endocrinol. Metabol."},{"issue":"13","key":"10.1016\/j.mce.2022.111825_bib66","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.1096\/fj.02-0870fje","article-title":"Ser-256 phosphorylation dynamics of Aquaporin 2 during maturation from the ER to the vesicular compartment in renal cells","volume":"17","author":"Procino","year":"2003","journal-title":"Faseb. J."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib67","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/ki.2014.10","article-title":"Combination of secretin and fluvastatin ameliorates the polyuria associated with X-linked nephrogenic diabetes insipidus in mice","volume":"86","author":"Procino","year":"2014","journal-title":"Kidney Int."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib68","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-020-73089-x","article-title":"Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation","volume":"10","author":"Prosperi","year":"2020","journal-title":"Sci. Rep."},{"issue":"5","key":"10.1016\/j.mce.2022.111825_bib69","doi-asserted-by":"crossref","DOI":"10.1016\/j.beem.2020.101398","article-title":"Diagnosis and differential diagnosis of diabetes insipidus: Update","volume":"34","author":"Refardt","year":"2020","journal-title":"Best Pract. Res. Clin. Endocrinol. Metabol."},{"issue":"2","key":"10.1016\/j.mce.2022.111825_bib70","doi-asserted-by":"crossref","first-page":"F265","DOI":"10.1152\/ajprenal.00404.2004","article-title":"Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model","volume":"289","author":"Robben","year":"2005","journal-title":"Am. J. Physiol. Ren. Physiol."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib71","doi-asserted-by":"crossref","first-page":"F253","DOI":"10.1152\/ajprenal.00247.2006","article-title":"Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus","volume":"292","author":"Robben","year":"2007","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"10.1016\/j.mce.2022.111825_bib72","series-title":"Posterior Pituitary. Williams Textbook of Endocrinology, Ed 13","first-page":"300","author":"Robinson","year":"2015"},{"issue":"18","key":"10.1016\/j.mce.2022.111825_bib73","doi-asserted-by":"crossref","first-page":"13030","DOI":"10.1016\/S0021-9258(19)38614-4","article-title":"Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase","volume":"268","author":"Rosenthal","year":"1993","journal-title":"J. Biol. Chem."},{"issue":"5","key":"10.1016\/j.mce.2022.111825_bib74","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1159\/000308167","article-title":"Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families","volume":"73","author":"Sahakitrungruang","year":"2010","journal-title":"Horm Res Paediatr"},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib75","doi-asserted-by":"crossref","first-page":"F216","DOI":"10.1152\/ajprenal.00439.2010","article-title":"Sildenafil reduces polyuria in rats with lithium-induced NDI","volume":"302","author":"Sanches","year":"2012","journal-title":"Am. J. Physiol. Ren. Physiol."},{"issue":"6","key":"10.1016\/j.mce.2022.111825_bib76","doi-asserted-by":"crossref","first-page":"F1149","DOI":"10.1152\/ajprenal.00418.2016","article-title":"Physiological insights into novel therapies for nephrogenic diabetes insipidus","volume":"311","author":"Sands","year":"2016","journal-title":"Am. J. Physiol. Ren. Physiol."},{"issue":"3","key":"10.1016\/j.mce.2022.111825_bib77","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1007\/s10157-012-0726-z","article-title":"Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2","volume":"17","author":"Sasaki","year":"2013","journal-title":"Clin. Exp. Nephrol."},{"issue":"2","key":"10.1016\/j.mce.2022.111825_bib78","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1507\/endocrj.K07-083","article-title":"Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations","volume":"55","author":"Satoh","year":"2008","journal-title":"Endocr. J."},{"issue":"4","key":"10.1016\/j.mce.2022.111825_bib79","doi-asserted-by":"crossref","first-page":"2381","DOI":"10.1074\/jbc.275.4.2381","article-title":"Structural implication for receptor oligomerization from functional reconstitution studies of mutant V2 vasopressin receptors","volume":"275","author":"Schulz","year":"2000","journal-title":"J. Biol. Chem."},{"issue":"3","key":"10.1016\/j.mce.2022.111825_bib80","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1002\/jcp.21552","article-title":"AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance","volume":"217","author":"Spanakis","year":"2008","journal-title":"J. Cell. Physiol."},{"key":"10.1016\/j.mce.2022.111825_bib81","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1172\/JCI2303","article-title":"Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus andcorrection by chemical chaperones","volume":"101","author":"Tamarappoo","year":"1998","journal-title":"J. Clin. Investig."},{"issue":"6 Pt 2","key":"10.1016\/j.mce.2022.111825_bib82","first-page":"F775","article-title":"Distribution of aquaporin-4 water channel expression within rat kidney","volume":"269","author":"Terris","year":"1995","journal-title":"Am. J. Physiol."},{"issue":"4","key":"10.1016\/j.mce.2022.111825_bib83","first-page":"648","article-title":"Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene","volume":"55","author":"van Lieburg","year":"1994","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib84","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/j.1460-2075.1993.tb05661.x","article-title":"Functional role of proline and tryptophan residues highly conserved among G protein-coupled receptors studied by mutational analysis of the m3 muscarinic receptor","volume":"12","author":"Wess","year":"1993","journal-title":"EMBO J."},{"issue":"6","key":"10.1016\/j.mce.2022.111825_bib85","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1046\/j.1523-1755.1998.00214.x","article-title":"AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus","volume":"54","author":"Wildin","year":"1998","journal-title":"Kidney Int."},{"key":"10.1016\/j.mce.2022.111825_bib86","doi-asserted-by":"crossref","first-page":"84","DOI":"10.7326\/0003-4819-27-1-84","article-title":"Nephrogenic diabetes insipidus transmitted by females and appearing during infancy in males","volume":"27","author":"Williams","year":"1947","journal-title":"Ann. Intern. Med."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib87","doi-asserted-by":"crossref","first-page":"126","DOI":"10.3349\/ymj.2006.47.1.126","article-title":"Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations","volume":"47","author":"Yoo","year":"2006","journal-title":"Yonsei Med. J."},{"issue":"1","key":"10.1016\/j.mce.2022.111825_bib88","doi-asserted-by":"crossref","first-page":"F85","DOI":"10.1152\/ajprenal.0054.2001","article-title":"Vasopressin rapidly increases phosphorylation of UT-A1 urea transporter in rat IMCDs through PKA","volume":"282","author":"Zhang","year":"2002","journal-title":"Am. J. Physiol. Ren. Physiol."}],"container-title":["Molecular and Cellular Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303720722002738?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303720722002738?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T14:22:17Z","timestamp":1759587737000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0303720722002738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":88,"alternative-id":["S0303720722002738"],"URL":"https:\/\/doi.org\/10.1016\/j.mce.2022.111825","relation":{},"ISSN":["0303-7207"],"issn-type":[{"value":"0303-7207","type":"print"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic basis of nephrogenic diabetes insipidus","name":"articletitle","label":"Article Title"},{"value":"Molecular and Cellular Endocrinology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mce.2022.111825","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"111825"}}