{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T20:02:07Z","timestamp":1790884927866,"version":"4.1.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":660,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2011,11]]},"DOI":"10.1016\/j.ajhg.2011.09.014","type":"journal-article","created":{"date-parts":[[2011,10,16]],"date-time":"2011-10-16T09:43:02Z","timestamp":1318758182000},"page":"628-633","source":"Crossref","is-referenced-by-count":244,"title":["Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract"],"prefix":"10.1016","volume":"89","author":[{"given":"Anne\u00a0E.","family":"Hughes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Declan\u00a0T.","family":"Bradley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Lechner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Durga\u00a0P.","family":"Dash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David\u00a0A.","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin\u00a0E.","family":"Willoughby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2011.09.014_bib1","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/0002-9394(86)90817-2","article-title":"A 48-year clinical and epidemiologic study of keratoconus","volume":"101","author":"Kennedy","year":"1986","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.ajhg.2011.09.014_bib2","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/s10792-007-9177-z","article-title":"Trends in penetrating keratoplasty in the United States 1980-2005","volume":"28","author":"Ghosheh","year":"2008","journal-title":"Int. Ophthalmol."},{"key":"10.1016\/j.ajhg.2011.09.014_bib3","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1093\/hmg\/11.9.1029","article-title":"VSX1: A gene for posterior polymorphous dystrophy and keratoconus","volume":"11","author":"H\u00e9on","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2011.09.014_bib4","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1038\/eye.2009.217","article-title":"Mutational screening of VSX1 in keratoconus patients from the\u00a0European population","volume":"24","author":"Dash","year":"2010","journal-title":"Eye (Lond.)"},{"key":"10.1016\/j.ajhg.2011.09.014_bib5","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1006\/exer.1999.0719","article-title":"Keratocyte apoptosis associated with keratoconus","volume":"69","author":"Kim","year":"1999","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.ajhg.2011.09.014_bib6","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.exer.2007.06.009","article-title":"Apoptosis in the initiation, modulation and termination of the corneal wound healing response","volume":"85","author":"Wilson","year":"2007","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.ajhg.2011.09.014_bib7","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/0092-8674(93)90529-Y","article-title":"The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14","volume":"75","author":"Lee","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2011.09.014_bib8","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1755-8417-2-7","article-title":"microRNAs and genetic diseases","volume":"2","author":"Meola","year":"2009","journal-title":"Pathogenetics"},{"key":"10.1016\/j.ajhg.2011.09.014_bib9","first-page":"1175","article-title":"MicroRNAs of the mammalian eye display distinct and overlapping tissue specificity","volume":"12","author":"Ryan","year":"2006","journal-title":"Mol. Vis."},{"key":"10.1016\/j.ajhg.2011.09.014_bib10","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1186\/1471-2164-11-715","article-title":"miRNeye: A microRNA expression atlas of the mouse eye","volume":"11","author":"Karali","year":"2010","journal-title":"BMC Genomics"},{"key":"10.1016\/j.ajhg.2011.09.014_bib11","doi-asserted-by":"crossref","first-page":"19300","DOI":"10.1073\/pnas.0803992105","article-title":"MicroRNA-184 antagonizes microRNA-205 to maintain SHIP2 levels in epithelia","volume":"105","author":"Yu","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2011.09.014_bib12","doi-asserted-by":"crossref","first-page":"5063","DOI":"10.1167\/iovs.03-0399","article-title":"Familial keratoconus with cataract: Linkage to the long arm of chromosome 15 and exclusion of candidate genes","volume":"44","author":"Hughes","year":"2003","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ajhg.2011.09.014_bib13","first-page":"499","article-title":"Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis","volume":"12","author":"Dash","year":"2006","journal-title":"Mol. Vis."},{"key":"10.1016\/j.ajhg.2011.09.014_bib14","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1101\/gr.194201","article-title":"SSAHA: A fast search method for large DNA databases","volume":"11","author":"Ning","year":"2001","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2011.09.014_bib15","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.2011.09.014_bib16","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2011.09.014_bib17","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.2011.09.014_bib18","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"Robinson","year":"2011","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2011.09.014_bib19","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1016\/j.bbalip.2006.07.007","article-title":"DnaJA4 is a SREBP-regulated chaperone involved in the cholesterol biosynthesis pathway","volume":"1761","author":"Robichon","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2011.09.014_bib20","doi-asserted-by":"crossref","first-page":"2087","DOI":"10.1126\/science.1103786","article-title":"Mammalian tissue oxygen levels modulate iron-regulatory protein activities in\u00a0vivo","volume":"306","author":"Meyron-Holtz","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2011.09.014_bib21","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1186\/gb-2003-5-1-r1","article-title":"MicroRNA targets in Drosophila","volume":"5","author":"Enright","year":"2003","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2011.09.014_bib22","unstructured":"Enright Lab. (2011). MicroCosm Targets Version 5, http:\/\/www.ebi.ac.uk\/enright-srv\/microcosm\/htdocs\/targets\/."},{"key":"10.1016\/j.ajhg.2011.09.014_bib23","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2011.09.014_bib24","doi-asserted-by":"crossref","first-page":"3406","DOI":"10.1093\/nar\/gkg595","article-title":"Mfold web server for nucleic acid folding and hybridization prediction","volume":"31","author":"Zuker","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.09.014_bib25","doi-asserted-by":"crossref","first-page":"2486","DOI":"10.1101\/gr.2845604","article-title":"MicroRNA expression detected by oligonucleotide microarrays: System establishment and expression profiling in human tissues","volume":"14","author":"Barad","year":"2004","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2011.09.014_bib26","doi-asserted-by":"crossref","first-page":"13129","DOI":"10.1074\/jbc.M410289200","article-title":"SH2-containing 5\u2032-inositol phosphatase, SHIP2, regulates cytoskeleton organization and ligand-dependent down-regulation of the epidermal growth factor receptor","volume":"280","author":"Prasad","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.09.014_bib27","doi-asserted-by":"crossref","first-page":"e363","DOI":"10.1371\/journal.pbio.0020363","article-title":"Human MicroRNA targets","volume":"2","author":"John","year":"2004","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ajhg.2011.09.014_bib28","series-title":"Cornea","first-page":"17","article-title":"Cornea and Sclera: Anatomy and Physiology","author":"Nishida","year":"2011"},{"key":"10.1016\/j.ajhg.2011.09.014_bib29","series-title":"R: A Language and Environment for Statistical Computing","year":"2009"},{"key":"10.1016\/j.ajhg.2011.09.014_bib30","series-title":"Ophthalmology","first-page":"381","article-title":"Basic Science of the lens","author":"Dai","year":"2009"},{"key":"10.1016\/j.ajhg.2011.09.014_bib31","first-page":"1705","article-title":"Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia","volume":"16","author":"Br\u00e9mond-Gignac","year":"2010","journal-title":"Mol. Vis."},{"key":"10.1016\/j.ajhg.2011.09.014_bib32","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1038\/ng.664","article-title":"A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25","volume":"42","author":"Hysi","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.09.014_bib33","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1038\/ng.355","article-title":"Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss","volume":"41","author":"Menc\u00eda","year":"2009","journal-title":"Nat. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711004046?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711004046?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,29]],"date-time":"2018-11-29T13:23:52Z","timestamp":1543497832000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929711004046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":33,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["S0002929711004046"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.09.014","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}