{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T07:14:35Z","timestamp":1769325275983,"version":"3.49.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.1016\/j.ejmg.2016.01.001","type":"journal-article","created":{"date-parts":[[2016,1,7]],"date-time":"2016-01-07T12:49:07Z","timestamp":1452170947000},"page":"65-69","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness"],"prefix":"10.1016","volume":"59","author":[{"given":"Behnam","family":"Safarpour Lima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Ghaedi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narsis","family":"Daftarian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Ahmadieh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6607-418X","authenticated-orcid":false,"given":"Javad","family":"Jamshidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehdi","family":"Khorrami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rezvan","family":"Noroozi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nasim","family":"Sohrabifar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farhad","family":"Assarzadegan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omid","family":"Hesami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaghayegh","family":"Taghavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azadeh","family":"Ahmadifard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minoo","family":"Atakhorrami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simin","family":"Rahimi-Aliabadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neda","family":"Shahmohammadibeni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elham","family":"Alehabib","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monavvar","family":"Andarva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hossein","family":"Darvish","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Babak","family":"Emamalizadeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ejmg.2016.01.001_bib1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Method."},{"issue":"2","key":"10.1016\/j.ejmg.2016.01.001_bib2","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1006\/bbrc.2000.2169","article-title":"Missense variations of the gene responsible for Wolfram syndrome (WFS1\/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis","volume":"268","author":"Awata","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"14","key":"10.1016\/j.ejmg.2016.01.001_bib3","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/ajmg.a.31809","article-title":"Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome","volume":"143A","author":"Cano","year":"2007","journal-title":"Am. J. Med. Genet. Part A"},{"issue":"3","key":"10.1016\/j.ejmg.2016.01.001_bib4","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1002\/ana.22160","article-title":"Neurologic features and genotype-phenotype correlation in Wolfram syndrome","volume":"69","author":"Chaussenot","year":"2011","journal-title":"Ann. Neurol."},{"issue":"5","key":"10.1016\/j.ejmg.2016.01.001_bib5","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1111\/cge.12437","article-title":"Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders","volume":"87","author":"Chaussenot","year":"2015","journal-title":"Clin. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2016.01.001_bib6","first-page":"497","article-title":"Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype","volume":"15","author":"de Heredia","year":"2013","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"10.1016\/j.ejmg.2016.01.001_bib7","series-title":"The PyMOL molecular graphics system","author":"DeLano","year":"2002"},{"issue":"10","key":"10.1016\/j.ejmg.2016.01.001_bib8","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/pd.982","article-title":"First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene","volume":"24","author":"Domenech","year":"2004","journal-title":"Prenat. Diagn."},{"issue":"3","key":"10.1016\/j.ejmg.2016.01.001_bib9","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1172\/JCI39678","article-title":"Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells","volume":"120","author":"Fonseca","year":"2010","journal-title":"J.\u00a0Clin. investigation"},{"issue":"2","key":"10.1016\/j.ejmg.2016.01.001_bib10","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1530\/EJE-08-0698","article-title":"Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome","volume":"160","author":"Gasparin","year":"2009","journal-title":"Eur. J. Endocrinol. \/Eur. Fed. Endocr. Soc."},{"issue":"1","key":"10.1016\/j.ejmg.2016.01.001_bib11","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1006\/mgme.2000.3107","article-title":"Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees","volume":"72","author":"Gomez-Zaera","year":"2001","journal-title":"Mol. Genet. Metab."},{"issue":"5","key":"10.1016\/j.ejmg.2016.01.001_bib12","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1086\/302609","article-title":"Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1","volume":"65","author":"Hardy","year":"1999","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2016.01.001_bib13","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."},{"issue":"2","key":"10.1016\/j.ejmg.2016.01.001_bib14","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.diabres.2005.01.002","article-title":"Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome","volume":"69","author":"Inukai","year":"2005","journal-title":"Diabetes Res. Clin. Pract."},{"issue":"5","key":"10.1016\/j.ejmg.2016.01.001_bib15","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/humu.1110","article-title":"WFS1\/wolframin mutations, Wolfram syndrome, and associated diseases","volume":"17","author":"Khanim","year":"2001","journal-title":"Hum. Mutat."},{"issue":"8","key":"10.1016\/j.ejmg.2016.01.001_bib16","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1038\/jhg.2013.29","article-title":"WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims","volume":"58","author":"Kytovuori","year":"2013","journal-title":"J.\u00a0Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2016.01.001_bib17","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.diabres.2005.12.007","article-title":"A\u00a0novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies","volume":"73","author":"Nakamura","year":"2006","journal-title":"Diabetes Res. Clin. Pract."},{"issue":"13","key":"10.1016\/j.ejmg.2016.01.001_bib18","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic acids Res."},{"issue":"5","key":"10.1016\/j.ejmg.2016.01.001_bib19","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1093\/hmg\/10.5.477","article-title":"WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain","volume":"10","author":"Takeda","year":"2001","journal-title":"Hum. Mol. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2016.01.001_bib20","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1136\/jmg.2005.033878","article-title":"Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral","volume":"43","author":"Tavtigian","year":"2006","journal-title":"J.\u00a0Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2016.01.001_bib21","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/humu.32","article-title":"Identification of novel WFS1 mutations in Italian children with Wolfram syndrome","volume":"17","author":"Tessa","year":"2001","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2016.01.001_bib22","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces","volume":"11","author":"Venselaar","year":"2010","journal-title":"BMC Bioinforma."},{"issue":"1","key":"10.1016\/j.ejmg.2016.01.001_bib23","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/nmeth.3213","article-title":"The I-TASSER Suite: protein structure and function prediction","volume":"12","author":"Yang","year":"2015","journal-title":"Nat. methods"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300015?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300015?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:42:42Z","timestamp":1761709362000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721216300015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["S1769721216300015"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.01.001","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2016,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.01.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}