{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:22:50Z","timestamp":1791246170938,"version":"4.1.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T00:00:00Z","timestamp":1364342400000},"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":[[2013,12]]},"DOI":"10.1038\/ejhg.2013.52","type":"journal-article","created":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T11:28:04Z","timestamp":1364383684000},"page":"1356-1360","source":"Crossref","is-referenced-by-count":60,"title":["Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans"],"prefix":"10.1038","volume":"21","author":[{"given":"Vanita","family":"Berry","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Gregory-Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren","family":"Emmett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naushin","family":"Waseem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Raby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DeQuincy","family":"Prescott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony T","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shomi S","family":"Bhattacharya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,3,27]]},"reference":[{"key":"BFejhg201352_CR1","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/j.survophthal.2004.02.013","volume":"49","author":"MA Reddy","year":"2004","unstructured":"Reddy MA, Francis PA, Berry V, Bhattacharya SS, Moore AT : Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004; 49: 300\u2013315.","journal-title":"Surv Ophthalmol"},{"key":"BFejhg201352_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000310663","volume":"210","author":"HG Krumpaszky","year":"1996","unstructured":"Krumpaszky HG, Klauss V : Epidemiology of blindness and eye disease. Ophthalmologica 1996; 210: 1\u201384.","journal-title":"Ophthalmologica"},{"key":"BFejhg201352_CR3","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1136\/jmg.37.7.481","volume":"37","author":"PJ Francis","year":"2000","unstructured":"Francis PJ, Berry V, Bhattacharya SS, Moore AT : The genetics of childhood cataract. J Med Genet 2000a; 37: 481\u2013488.","journal-title":"J Med Genet"},{"key":"BFejhg201352_CR4","first-page":"2007","volume":"16","author":"A Shiels","year":"2010","unstructured":"Shiels A, Bennett TM, Hejtmancik JF : Cat-Map: putting cataract on the map. Mol Vis 2010; 16: 2007\u20132015.","journal-title":"Mol Vis"},{"key":"BFejhg201352_CR5","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1016\/j.exer.2009.05.007","volume":"89","author":"R Schmidt-Kastner","year":"2009","unstructured":"Schmidt-Kastner R, Kreczmanski P, Preising M et al: Expression of the diabetes risk gene wolframin (WFS1) in the human retina. Exp Eye Res 2009; 89: 568\u2013574.","journal-title":"Exp Eye Res"},{"key":"BFejhg201352_CR6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/cne.21734","volume":"510","author":"J Kawano","year":"2008","unstructured":"Kawano J, Tanizawa Y, Shinoda K : Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system. J.Comp Neurol 2008; 510: 1\u201323.","journal-title":"J.Comp Neurol"},{"key":"BFejhg201352_CR7","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1093\/hmg\/10.5.477","volume":"10","author":"K Takeda","year":"2001","unstructured":"Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y et al: WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 2001; 10: 477\u2013484.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201352_CR8","doi-asserted-by":"publisher","first-page":"2003","DOI":"10.1093\/hmg\/ddg214","volume":"12","author":"S Hofmann","year":"2003","unstructured":"Hofmann S, Philbrook C, Gerbitz KD, Bauer MF : Wolfram syndrome: structural and functional analyses of mutant and wild-type Wolframin, the WFS1 gene product. Hum Mol Genet 2003; 12: 2003\u20132012.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201352_CR9","doi-asserted-by":"publisher","first-page":"2021","DOI":"10.1093\/hmg\/7.13.2021","volume":"7","author":"TM Strom","year":"1998","unstructured":"Strom TM, H\u00f6rtnagel K, Hofmann S et al: Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (Wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998; 7: 2021\u20132028.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201352_CR10","first-page":"715","volume":"13","author":"DJ Wolfram","year":"1938","unstructured":"Wolfram DJ, Wagener HP : Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 1938; 13: 715\u2013718.","journal-title":"Mayo Clin Proc"},{"key":"BFejhg201352_CR11","doi-asserted-by":"publisher","first-page":"1458","DOI":"10.1016\/S0140-6736(95)92473-6","volume":"346","author":"TG Barrett","year":"1995","unstructured":"Barrett TG, Bundey SE, Macleod AF : Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995; 346: 1458\u20131463.","journal-title":"Lancet"},{"key":"BFejhg201352_CR12","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1002\/humu.10258","volume":"22","author":"K Cryns","year":"2003","unstructured":"Cryns K, Sivakumaran TA, Van den Ouweland JM et al: Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutation 2003; 22: 275\u2013287.","journal-title":"Hum Mutation"},{"key":"BFejhg201352_CR13","first-page":"1997","volume-title":"GeneReviews at GeneTests: Medical Genetics Information Resource","author":"L Tranebjaerg","year":"2009","unstructured":"Tranebjaerg L, Barrett T, Rendtorff ND : WFS1-related disorders. GeneReviews at GeneTests: Medical Genetics Information Resource. University of Washington: Seattle, 2009, pp 1997\u20132008."},{"key":"BFejhg201352_CR14","doi-asserted-by":"publisher","first-page":"2509","DOI":"10.1093\/hmg\/10.22.2509","volume":"10","author":"TL Young","year":"2001","unstructured":"Young TL, Ives E, Lynch E et al: Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 2001; 10: 2509\u20132514.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201352_CR15","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.1038\/sj.ejhg.5201491","volume":"12","author":"L Hansen","year":"2005","unstructured":"Hansen L, Eiberg H, Barrett T et al: Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet 2005; 12: 1275\u20131284.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg201352_CR16","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1136\/jmg.2005.034892","volume":"43","author":"H Eiberg","year":"2006","unstructured":"Eiberg H, Hansen L, Kjer B et al: Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 2006; 43: 435\u2013440.","journal-title":"J Med Genet"},{"key":"BFejhg201352_CR17","doi-asserted-by":"publisher","first-page":"1298","DOI":"10.1002\/ajmg.a.33970","volume":"6","author":"ND Rendtorff","year":"2011","unstructured":"Rendtorff ND, Lodahl M, Boulahbel H et al: Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A 2011; 6: 1298\u20131313.","journal-title":"Am J Med Genet A"},{"key":"BFejhg201352_CR18","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/j.jns.2010.08.044","volume":"300","author":"A Waschbisch","year":"2011","unstructured":"Waschbisch A, Volbers B, Struffert T et al: Primary diagnosis of Wolfram syndrome in an adult patient-case report and description of a novel pathogenic mutation. J Neurol Sci 2011; 300: 191\u2013193.","journal-title":"J Neurol Sci"},{"key":"BFejhg201352_CR19","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1111\/j.1399-0004.2010.01522.x","volume":"79","author":"L Rigoli","year":"2011","unstructured":"Rigoli L, Lombardo F, Di Bella C : Wolfram syndrome and WFS1 gene. Clin Genet 2011; 79: 103\u2013117.","journal-title":"Clin Genet"},{"key":"BFejhg201352_CR20","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1016\/j.devcel.2011.07.012","volume":"21","author":"UJ Pyati","year":"2011","unstructured":"Pyati UJ, Gjini E, Carbonneau S et al: Look AT. p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis. Dev Cell 2011; 21: 492\u2013505.","journal-title":"Dev Cell"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201352.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201352","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201352.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:10:32Z","timestamp":1684429832000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,27]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["BFejhg201352"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2013.52","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,27]]}}}