{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:00:30Z","timestamp":1791928830679,"version":"4.3.4"},"reference-count":73,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"7","license":[{"start":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T00:00:00Z","timestamp":1686009600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2023,6,6]]},"DOI":"10.1167\/iovs.64.7.12","type":"journal-article","created":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T15:58:12Z","timestamp":1686067092000},"page":"12","source":"Crossref","is-referenced-by-count":3,"title":["Meta-Analysis of Keratoconus Transcriptomic Data Revealed Altered RNA Editing Levels Impacting Keratin Genomic Clusters"],"prefix":"10.1167","volume":"64","author":[{"given":"Enrico","family":"Bortoletto","sequence":"first","affiliation":[{"name":"Department of Biology, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Pieretti","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Histology Unit, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Brun","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Histology Unit, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Venier","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Leonardi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Ophthalmology Unit, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"Rosani","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/S0039-6257(97)00119-7","article-title":"Keratoconus","volume":"42","author":"Rabinowitz","year":"1998","journal-title":"Surv Ophthalmol"},{"key":"bib2","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.survophthal.2017.06.009","article-title":"A review of keratoconus: diagnosis, pathophysiology, and genetics","volume":"62","author":"Tur","year":"2017","journal-title":"Surv Ophthalmol"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1038\/eye.2013.278","article-title":"The pathogenesis of keratoconus","volume":"28","author":"Davidson","year":"2014","journal-title":"Eye"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"382","DOI":"10.4103\/0301-4738.116054","article-title":"Epidemiology of keratoconus","volume":"61","author":"Gokhale","year":"2013","journal-title":"Indian J Ophthalmol"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1097\/ICO.0000000000002150","article-title":"The prevalence and risk factors for keratoconus: a systematic review and meta-analysis","volume":"39","author":"Hashemi","year":"2020","journal-title":"Cornea"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.jtos.2020.03.006","article-title":"The keratoconus enigma: a review with emphasis on pathogenesis","volume":"18","author":"Ferrari","year":"2020","journal-title":"Ocul Surf"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1001\/archopht.1990.01070060082054","article-title":"Development of keratoconus after contact lens wear: patient characteristics","volume":"108","author":"Macsai","year":"1990","journal-title":"Arch Ophthalmol"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1097\/ICL.0b013e31814fb64b","article-title":"Abnormal rubbing and keratectasia","volume":"33","author":"McMonnies","year":"2007","journal-title":"Eye Contact Lens"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"407","DOI":"10.4103\/0301-4738.116063","article-title":"Ocular allergy and keratoconus","volume":"61","author":"Sharma","year":"2013","journal-title":"Indian J Ophthalmol"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.jtos.2022.05.002","article-title":"Morphological retinal changes in keratoconus","volume":"25","author":"McMonnies","year":"2022","journal-title":"Ocul Surf"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"766","DOI":"10.1007\/BF00184087","article-title":"Explorative study of interleukin levels in the human cornea","volume":"233","author":"Becker","year":"1995","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1016\/j.jtos.2015.04.006","article-title":"Cytokine expression in keratoconus and its corneal microenvironment: a systematic review","volume":"13","author":"Wisse","year":"2015","journal-title":"Ocul Surf"},{"key":"bib13","first-page":"425","article-title":"Modification of prostaglandin E2 and collagen synthesis in keratoconus fibroblasts, associated with an increase of interleukin 1 alpha receptor number","volume":"316","author":"Bureau","year":"1993","journal-title":"C R Acad Sci III"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"3964","DOI":"10.1167\/iovs.04-0439","article-title":"Inflammatory cytokines induce apoptosis of corneal endothelium through nitric oxide","volume":"45","author":"Sagoo","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib15","first-page":"1285","article-title":"Interleukin-1alpha downregulates extracellular-superoxide dismutase in human corneal keratoconus stromal cells","volume":"13","author":"Olofsson","year":"2007","journal-title":"Mol Vis"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"S85","DOI":"10.1016\/S1542-0124(12)70471-8","article-title":"Lack of TRKA expression in keratoconus: molecular and biochemical evidence of a potential pathogenetic role for nerve growth factor (NGF)","volume":"3","author":"Lambiase","year":"2005","journal-title":"Ocul Surf"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"2205","DOI":"10.1007\/s12325-019-01026-0","article-title":"The proteins of keratoconus: a literature review exploring their contribution to the pathophysiology of the disease","volume":"36","author":"Loukovitis","year":"2019","journal-title":"Adv Ther"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1083\/jcb.103.1.49","article-title":"Differentiation-related expression of a major 64K corneal keratin in vivo and in culture suggests limbal location of corneal epithelial stem cells","volume":"103","author":"Schermer","year":"1986","journal-title":"J Cell Biol"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/S1350-9462(01)00025-8","article-title":"Intermediate-filament expression in ocular tissue","volume":"21","author":"Pitz","year":"2002","journal-title":"Prog Retin Eye Res"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"275","DOI":"10.3109\/08820538.2013.825295","article-title":"The genetics of keratoconus","volume":"28","author":"Chang","year":"2013","journal-title":"Semin Ophthalmol"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/s40662-016-0047-5","article-title":"Genetics in keratoconus: where are we?","volume":"3","author":"Bykhovskaya","year":"2016","journal-title":"Eye and Vision"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"108398","DOI":"10.1016\/j.exer.2020.108398","article-title":"Update on the genetics of keratoconus","volume":"202","author":"Bykhovskaya","year":"2021","journal-title":"Exp Eye Res"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1016\/j.molmed.2018.07.010","article-title":"Epitranscriptomic code and its alterations in human disease","volume":"24","author":"Kadumuri","year":"2018","journal-title":"Trends in Molec Med"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1021\/cb7001494","article-title":"Expanding the nucleotide repertoire of the ribosome with post-transcriptional modifications","volume":"2","author":"Chow","year":"2007","journal-title":"ACS Chem Biol"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1186\/s12967-019-2071-4","article-title":"RNA editing in the forefront of epitranscriptomics and human health","volume":"17","author":"Christofi","year":"2019","journal-title":"J Transl Med"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"170077","DOI":"10.1098\/rsob.170077","article-title":"Understanding RNA modifications: the promises and technological bottlenecks of the \u2018epitranscriptome.","volume":"7","author":"Schaefer","year":"2017","journal-title":"Open Biol"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1186\/gm508","article-title":"Adenosine-to-inosine RNA editing and human disease","volume":"5","author":"Slotkin","year":"2013","journal-title":"Genome Med"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.canlet.2017.09.036","article-title":"Mechanisms and implications of ADAR-mediated RNA editing in cancer","volume":"411","author":"Wang","year":"2017","journal-title":"Cancer Letters"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"12","DOI":"10.3390\/genes10010012","article-title":"ADAR1 editing and its role in cancer","volume":"10","author":"Xu","year":"2018","journal-title":"Genes (Basel)"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1016\/j.trecan.2019.03.004","article-title":"ADAR and immune silencing in cancer","volume":"5","author":"Herbert","year":"2019","journal-title":"Trends in Cancer"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1016\/j.ccell.2015.08.013","article-title":"The genomic landscape and clinical relevance of A-to-I RNA editing in human cancers","volume":"28","author":"Han","year":"2015","journal-title":"Cancer Cell"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1038\/s41576-018-0006-1","article-title":"A-to-I RNA editing \u2014 immune protector and transcriptome diversifier","volume":"19","author":"Eisenberg","year":"2018","journal-title":"Nat Rev Genet"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1038\/427801a","article-title":"Glutamate receptors: RNA editing and death of motor neurons","volume":"427","author":"Kawahara","year":"2004","journal-title":"Nature"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1101\/gr.210740.116","article-title":"Genome-wide analysis of differential RNA editing in epilepsy","volume":"27","author":"Srivastava","year":"2017","journal-title":"Genome Res"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1093\/hmg\/ddr461","article-title":"Deregulation of the A-to-I RNA editing mechanism in psychiatric disorders","volume":"21","author":"Silberberg","year":"2012","journal-title":"Human Molec Genet"},{"key":"bib36","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1038\/mp.2012.118","article-title":"Comparative RNA editing in autistic and neurotypical cerebella","volume":"18","author":"Eran","year":"2013","journal-title":"Mol Psychiatry"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"3053","DOI":"10.1093\/hmg\/ddz110","article-title":"RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways","volume":"28","author":"Gardner","year":"2019","journal-title":"Hum Mol Genet"},{"key":"bib38","doi-asserted-by":"publisher","first-page":"1482","DOI":"10.1016\/j.celrep.2014.10.041","article-title":"The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA","volume":"9","author":"Mannion","year":"2014","journal-title":"Cell Reports"},{"key":"bib39","doi-asserted-by":"publisher","first-page":"4894","DOI":"10.1074\/jbc.M311347200","article-title":"Liver disintegration in the mouse embryo caused by deficiency in the RNA-editing enzyme ADAR1*","volume":"279","author":"Hartner","year":"2004","journal-title":"J Biologic Chem"},{"key":"bib40","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1038\/ni.1680","article-title":"ADAR1 is essential for the maintenance of hematopoiesis and suppression of interferon signaling","volume":"10","author":"Hartner","year":"2009","journal-title":"Nat Immunol"},{"key":"bib41","doi-asserted-by":"publisher","first-page":"D1046","DOI":"10.1093\/nar\/gkaa1070","article-title":"The UCSC genome browser database: 2021 update","volume":"49","author":"Navarro Gonzalez","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"bib42","doi-asserted-by":"publisher","first-page":"D750","DOI":"10.1093\/nar\/gkw767","article-title":"REDIportal: a comprehensive database of A-to-I RNA editing events in humans","volume":"45","author":"Picardi","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1038\/ejhg.2017.4","article-title":"Collagen synthesis disruption and downregulation of core elements of TGF-\u00df, Hippo, and Wnt pathways in keratoconus corneas","volume":"25","author":"Kabza","year":"2017","journal-title":"Eur J Hum Genet"},{"key":"bib44","doi-asserted-by":"publisher","first-page":"9907","DOI":"10.1038\/s41598-020-66735-x","article-title":"RNA sequencing of corneas from two keratoconus patient groups identifies potential biomarkers and decreased NRF2-antioxidant responses","volume":"10","author":"Shinde","year":"2020","journal-title":"Sci Rep"},{"key":"bib45","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: a flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"bib46","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"bib47","doi-asserted-by":"publisher","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":"bib48","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/ncomms5726","article-title":"A genome-wide map of hyper-edited RNA reveals numerous new sites","volume":"5","author":"Porath","year":"2014","journal-title":"Nat Commun"},{"key":"bib49","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/s12859-019-2597-8","article-title":"pblat: a multithread blat algorithm speeding up aligning sequences to genomes","volume":"20","author":"Wang","year":"2019","journal-title":"BMC Bioinformatics"},{"key":"bib50","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1038\/s41596-019-0279-7","article-title":"Investigating RNA editing in deep transcriptome datasets with REDItools and REDIportal","volume":"15","author":"Lo Giudice","year":"2020","journal-title":"Nat Protoc"},{"key":"bib51","doi-asserted-by":"publisher","first-page":"1813","DOI":"10.1093\/bioinformatics\/btt287","article-title":"REDItools: high-throughput RNA editing detection made easy","volume":"29","author":"Picardi","year":"2013","journal-title":"Bioinformatics"},{"key":"bib52","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1038\/s41592-019-0610-9","article-title":"Genome-wide quantification of ADAR adenosine-to-inosine RNA editing activity","volume":"16","author":"Roth","year":"2019","journal-title":"Nat Methods"},{"key":"bib53","doi-asserted-by":"publisher","first-page":"194","DOI":"10.3389\/fgene.2020.00194","article-title":"Quantifying RNA editing in deep transcriptome datasets","volume":"11","author":"Lo Giudice","year":"2020","journal-title":"Front Genet"},{"key":"bib56","doi-asserted-by":"publisher","first-page":"2717","DOI":"10.1167\/iovs.18-24267","article-title":"Differential expression of coding and long noncoding RNAs in keratoconus-affected corneas","volume":"59","author":"Khaled","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib57","doi-asserted-by":"publisher","first-page":"588","DOI":"10.3390\/genes13040588","article-title":"Are miRNAs dynamic biomarkers in keratoconus?","volume":"13","author":"Stunf Pukl","year":"2022","journal-title":"A Review of the Literature. Genes (Basel)"},{"key":"bib58","doi-asserted-by":"crossref","first-page":"3","DOI":"10.4103\/2008-322X.180715","article-title":"Screening for MIR184 mutations in Iranian patients with keratoconus","volume":"11","author":"Farzadfard","year":"2016","journal-title":"J Ophthalmic Vis Res"},{"key":"bib59","doi-asserted-by":"publisher","first-page":"e391","DOI":"10.1371\/journal.pbio.0020391","article-title":"Widespread A-to-I RNA editing of Alu-containing mRNAs in the human transcriptome","volume":"2","author":"Athanasiadis","year":"2004","journal-title":"PLoS Biol"},{"key":"bib60","doi-asserted-by":"publisher","first-page":"6881","DOI":"10.1038\/ncomms7881","article-title":"APOBEC3A cytidine deaminase induces RNA editing in monocytes and macrophages","volume":"6","author":"Sharma","year":"2015","journal-title":"Nat Commun"},{"key":"bib61","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1038\/ng1295-450","article-title":"A mutation in the mucosal keratin K4 is associated with oral white sponge nevus","volume":"11","author":"Rugg","year":"1995","journal-title":"Nat Genet"},{"key":"bib62","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1006\/bbrc.2000.3110","article-title":"Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5","volume":"274","author":"Whittock","year":"2000","journal-title":"Biochem Biophys Res Commun"},{"key":"bib63","doi-asserted-by":"publisher","first-page":"1290","DOI":"10.1111\/bjd.2011.165.issue-6","article-title":"Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation","volume":"165","author":"Akasaka","year":"2011","journal-title":"Br J Dermatol"},{"key":"bib65","first-page":"2572","article-title":"Keratin 12-deficient mice have fragile corneal epithelia","volume":"37","author":"Kao","year":"1996","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib66","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/0092-8674(91)90568-J","article-title":"RNA editing in brain controls a determinant of ion flow in glutamate-gated channels","volume":"67","author":"Sommer","year":"1991","journal-title":"Cell"},{"key":"bib67","doi-asserted-by":"publisher","first-page":"111211","DOI":"10.1016\/j.celrep.2022.111211","article-title":"Molecular insights into the regulation of constitutive activity by RNA editing of 5HT2C serotonin receptors","volume":"40","author":"Gumpper","year":"2022","journal-title":"Cell Reports"},{"key":"bib68","doi-asserted-by":"publisher","first-page":"10435","DOI":"10.1074\/jbc.M111.299669","article-title":"Lack of plakoglobin in epidermis leads to keratoderma","volume":"287","author":"Li","year":"2012","journal-title":"J Biol Chem"},{"key":"bib69","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1016\/j.devcel.2020.05.007","article-title":"Folding keratin gene clusters during skin regional specification","volume":"53","author":"Liang","year":"2020","journal-title":"Dev Cell"},{"key":"bib70","doi-asserted-by":"publisher","first-page":"e0260081","DOI":"10.1371\/journal.pone.0260081","article-title":"Conservation of A-to-I RNA editing in bowhead whale and pig","volume":"16","author":"Larsen","year":"2021","journal-title":"PLoS One"},{"key":"bib71","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1083\/jcb.200202016","article-title":"Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function","volume":"157","author":"Ungar","year":"2002","journal-title":"J Cell Biol"},{"key":"bib72","doi-asserted-by":"publisher","first-page":"132","DOI":"10.3390\/ijms21010132","article-title":"Systems and synthetic microRNA biology: from biogenesis to disease pathogenesis","volume":"21","author":"Matsuyama","year":"2019","journal-title":"Int J Mol Sci"},{"key":"bib73","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41419-022-04734-8","article-title":"A novel mechanism for A-to-I RNA-edited AZIN1 in promoting tumor angiogenesis in colorectal cancer","volume":"13","author":"Wei","year":"2022","journal-title":"Cell Death Dis"},{"key":"bib54","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1007\/978-1-4939-3578-9_16","article-title":"Visualizing genomic data using gviz and bioconductor","volume-title":"Statistical Genomics: methods and Protocols","author":"Hahne","year":"2016"},{"key":"bib55","volume-title":"R: a language and environment for statistical computing","author":"R Core Team","year":"2021"},{"key":"bib64","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/B978-0-7020-5554-6.00004-6","article-title":"Chapter 4 - Biochemistry and cell biology","volume-title":"The Eye","author":"Forrester","year":"2016","edition":"Fourth Edition"}],"container-title":["Investigative Opthalmology & Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2785680","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:38Z","timestamp":1791927098000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2785680"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,6]]},"references-count":73,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,6,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.64.7.12","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6,6]]}}}