{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T12:58:20Z","timestamp":1793797100673,"version":"4.6.1"},"reference-count":23,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2015,2,1]],"date-time":"2015-02-01T00:00:00Z","timestamp":1422748800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,8,5]],"date-time":"2015-08-05T00:00:00Z","timestamp":1438732800000},"content-version":"vor","delay-in-days":185,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1016\/j.ajhg.2014.12.014","type":"journal-article","created":{"date-parts":[[2015,1,22]],"date-time":"2015-01-22T18:03:52Z","timestamp":1421949832000},"page":"275-282","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":223,"title":["A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome"],"prefix":"10.1016","volume":"96","author":[{"given":"Frank","family":"Rutsch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"MacDougall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changming","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Insa","family":"Buers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Mamaeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Nitschke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian\u00a0I.","family":"Rice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Erlandsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans\u00a0Gerd","family":"Kehl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"H\u00f6hne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanick\u00a0J.","family":"Crow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Feigenbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul\u00a0C.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2014.12.014_bib1","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1007\/BF00972817","article-title":"An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition","volume":"1","author":"Singleton","year":"1973","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.ajhg.2014.12.014_bib2","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/ajmg.a.35732","article-title":"Singleton-Merten syndrome: an autosomal dominant disorder with variable expression","volume":"161A","author":"Feigenbaum","year":"2013","journal-title":"Am. J. Med. Genet. A."},{"issue":"1","key":"10.1016\/j.ajhg.2014.12.014_bib3","doi-asserted-by":"crossref","first-page":"57","DOI":"10.3109\/03008207.2014.923880","article-title":"Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation","volume":"55","author":"Lu","year":"2014","journal-title":"Connect. Tissue Res."},{"key":"10.1016\/j.ajhg.2014.12.014_bib4","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2014.12.014_bib5","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2014.12.014_bib6","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J.\u00a0Comput. Biol."},{"key":"10.1016\/j.ajhg.2014.12.014_bib7","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/j.immuni.2013.05.007","article-title":"Cytosolic sensing of viruses","volume":"38","author":"Goubau","year":"2013","journal-title":"Immunity"},{"key":"10.1016\/j.ajhg.2014.12.014_bib8","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1046\/j.1365-2958.1999.01659.x","article-title":"Helicase motifs: the engine that powers DNA unwinding","volume":"34","author":"Hall","year":"1999","journal-title":"Mol. Microbiol."},{"key":"10.1016\/j.ajhg.2014.12.014_bib9","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.immuni.2013.12.014","article-title":"Autoimmune disorders associated with gain of function of the intracellular sensor MDA5","volume":"40","author":"Funabiki","year":"2014","journal-title":"Immunity"},{"key":"10.1016\/j.ajhg.2014.12.014_bib10","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S1097-2765(01)00329-X","article-title":"DExD\/H box RNA helicases: from generic motors to specific dissociation functions","volume":"8","author":"Tanner","year":"2001","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2014.12.014_bib11","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.gene.2005.10.019","article-title":"The DEAD-box protein family of RNA helicases","volume":"367","author":"Cordin","year":"2006","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2014.12.014_bib12","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.cell.2012.11.048","article-title":"Structural basis for dsRNA recognition, filament formation, and antiviral signal activation by MDA5","volume":"152","author":"Wu","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2014.12.014_bib13","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1038\/ng.694","article-title":"A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1","volume":"42","author":"Strange","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2014.12.014_bib14","doi-asserted-by":"crossref","first-page":"4331","DOI":"10.1038\/ncomms5331","article-title":"Sequencing-based approach identified three new susceptibility loci for psoriasis","volume":"5","author":"Sheng","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2014.12.014_bib15","doi-asserted-by":"crossref","first-page":"627","DOI":"10.3109\/08820139.2014.909455","article-title":"Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a Chinese population","volume":"43","author":"Dou","year":"2014","journal-title":"Immunol. Invest."},{"key":"10.1016\/j.ajhg.2014.12.014_bib16","doi-asserted-by":"crossref","first-page":"3129","DOI":"10.1093\/hmg\/ddr215","article-title":"Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis","volume":"20","author":"Bijlmakers","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2014.12.014_bib17","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1007\/s10753-012-9564-0","article-title":"Association study of IFIH1 rs1990760 polymorphism with systemic lupus erythematosus in a Chinese population","volume":"36","author":"Cen","year":"2013","journal-title":"Inflammation"},{"key":"10.1016\/j.ajhg.2014.12.014_bib18","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1038\/ng1800","article-title":"A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region","volume":"38","author":"Smyth","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2014.12.014_bib19","doi-asserted-by":"crossref","first-page":"2858","DOI":"10.2337\/db08-0753","article-title":"A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3","volume":"57","author":"Concannon","year":"2008","journal-title":"Diabetes"},{"key":"10.1016\/j.ajhg.2014.12.014_bib20","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1126\/science.1167728","article-title":"Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes","volume":"324","author":"Nejentsev","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2014.12.014_bib21","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1038\/ng.2933","article-title":"Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling","volume":"46","author":"Rice","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2014.12.014_bib22","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ajhg.2014.06.007","article-title":"Aicardi-Gouti\u00e8res syndrome is caused by IFIH1 mutations","volume":"95","author":"Oda","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2014.12.014_bib23","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/S1074-7613(00)00053-4","article-title":"Distinct and essential roles of transcription factors IRF-3 and IRF-7 in response to viruses for IFN-alpha\/beta gene induction","volume":"13","author":"Sato","year":"2000","journal-title":"Immunity"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929714005205?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929714005205?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,26]],"date-time":"2018-09-26T04:51:06Z","timestamp":1537937466000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929714005205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["S0002929714005205"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2014.12.014","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2015,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2014.12.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}