{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:23:27Z","timestamp":1760909007170},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2016,10,5]],"date-time":"2016-10-05T00:00:00Z","timestamp":1475625600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2017,1]]},"DOI":"10.1038\/ejhg.2016.130","type":"journal-article","created":{"date-parts":[[2016,10,5]],"date-time":"2016-10-05T10:22:36Z","timestamp":1475662956000},"page":"73-78","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1\u2013q35.3 susceptibility locus identified by whole-exome sequencing"],"prefix":"10.1038","volume":"25","author":[{"given":"Justyna A","family":"Karolak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Gambin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose A","family":"Pitarque","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Molinari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shalini","family":"Jhangiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawel","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzena","family":"Gajecka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,10,5]]},"reference":[{"key":"BFejhg2016130_CR1","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/S0039-6257(97)00119-7","volume":"42","author":"YS Rabinowitz","year":"1998","unstructured":"Rabinowitz YS : Keratoconus. Surv Ophthalmol 1998; 42: 297\u2013319.","journal-title":"Surv Ophthalmol"},{"key":"BFejhg2016130_CR2","doi-asserted-by":"crossref","first-page":"571","DOI":"10.5694\/j.1326-5377.1975.tb111590.x","volume":"1","author":"I Robertson","year":"1975","unstructured":"Robertson I : Keratoconus and the Ehlers-Danlos syndrome: a new aspect of keratoconus. Med J Aust 1975; 1: 571\u2013573.","journal-title":"Med J Aust"},{"key":"BFejhg2016130_CR3","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1177\/014107689208500807","volume":"85","author":"KW Sharif","year":"1992","unstructured":"Sharif KW, Casey TA, Coltart J : Prevalence of mitral valve prolapse in keratoconus patients. J R Soc Med 1992; 85: 446\u2013448.","journal-title":"J R Soc Med"},{"key":"BFejhg2016130_CR4","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1055\/s-2008-1035438","volume":"206","author":"U Beckh","year":"1995","unstructured":"Beckh U, Sch\u00f6nherr U, Naumann GO : Autosomal dominant keratoconus as the chief ocular symptom in Lobstein osteogenesis imperfecta tarda. Klin Monbl Augenheilkd 1995; 206: 268\u2013272.","journal-title":"Klin Monbl Augenheilkd"},{"key":"BFejhg2016130_CR5","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1136\/bjo.47.6.321","volume":"47","author":"JF Cullen","year":"1963","unstructured":"Cullen JF, Butler HG : Mongolism (Down's syndrome) and keratoconus. Br J Ophthalmol 1963; 47: 321\u2013330.","journal-title":"Br J Ophthalmol"},{"key":"BFejhg2016130_CR6","doi-asserted-by":"crossref","first-page":"38","DOI":"10.3928\/0191-3913-19940101-08","volume":"31","author":"MJ Elder","year":"1994","unstructured":"Elder MJ : Leber congenital amaurosis and its association with keratoconus and keratoglobus. J Pediatr Ophthalmol Strabismus 1994; 31: 38\u201340.","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"BFejhg2016130_CR7","doi-asserted-by":"publisher","first-page":"795738","DOI":"10.1155\/2015\/795738","volume":"2015","author":"A Gordon-Shaag","year":"2015","unstructured":"Gordon-Shaag A, Millodot M, Shneor E, Liu Y : The genetic and environmental factors for keratoconus. Biomed Res Int 2015; 2015: 795738.","journal-title":"Biomed Res Int"},{"key":"BFejhg2016130_CR8","first-page":"641708","volume":"2014","author":"KK Abu-Amero","year":"2014","unstructured":"Abu-Amero KK, Al-Muammar AM, Kondkar AA : Genetics of keratoconus: where do we stand? J Ophthalmol 2014; 2014: 641708.","journal-title":"J Ophthalmol"},{"key":"BFejhg2016130_CR9","doi-asserted-by":"publisher","first-page":"e482","DOI":"10.1111\/j.1755-3768.2012.02448.x","volume":"90","author":"SJ Tuft","year":"2012","unstructured":"Tuft SJ, Hassan H, George S, Frazer DG, Willoughby CE, Liskova P : Keratoconus in 18 pairs of twins. Acta Ophthalmol 2012; 90: e482\u2013e486.","journal-title":"Acta Ophthalmol"},{"key":"BFejhg2016130_CR10","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1038\/ejhg.2011.203","volume":"20","author":"M Czugala","year":"2012","unstructured":"Czugala M, Karolak JA, Nowak DM et al: Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. Eur J Hum Genet 2012; 20: 389\u2013397.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2016130_CR11","doi-asserted-by":"crossref","unstructured":"Hughes AE, Bradley DT, Campbell M et al: Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Am J Hum Genet 89: 628\u2013633.","DOI":"10.1016\/j.ajhg.2011.09.014"},{"key":"BFejhg2016130_CR12","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1136\/jmg.2003.012872","volume":"41","author":"F Brancati","year":"2004","unstructured":"Brancati F, Valente EM, Sarkozy A et al: A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet 2004; 41: 188\u2013192.","journal-title":"J Med Genet"},{"key":"BFejhg2016130_CR13","doi-asserted-by":"publisher","first-page":"3791","DOI":"10.1167\/iovs.06-0214","volume":"47","author":"X Li","year":"2006","unstructured":"Li X, Rabinowitz YS, Tang YG et al: Two-stage genome-wide linkage scan in keratoconus sib pair families. Invest Ophthalmol Vis Sci 2006; 47: 3791\u20133795.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2016130_CR14","doi-asserted-by":"publisher","first-page":"1531","DOI":"10.1167\/iovs.08-2173","volume":"50","author":"M Gajecka","year":"2009","unstructured":"Gajecka M, Radhakrishna U, Winters D et al: Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci 2009; 50: 1531\u20131539.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2016130_CR15","doi-asserted-by":"publisher","first-page":"2207","DOI":"10.1167\/iovs.13-11592","volume":"54","author":"DM Nowak","year":"2013","unstructured":"Nowak DM, Karolak JA, Kubiak J et al: Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus. Invest Ophthalmol Vis Sci 2013; 54: 2207\u20132215.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2016130_CR16","doi-asserted-by":"publisher","first-page":"1906","DOI":"10.1002\/ajmg.a.34100","volume":"155A","author":"JA Rosenfeld","year":"2011","unstructured":"Rosenfeld JA, Drautz JM, Clericuzio CL et al: Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. Am J Med Genet A 2011; 155A: 1906\u20131916.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2016130_CR17","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1186\/gm461","volume":"5","author":"JR Lupski","year":"2013","unstructured":"Lupski JR, Gonzaga-Jauregui C, Yang Y et al: Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med 2013; 5: 57.","journal-title":"Genome Med"},{"key":"BFejhg2016130_CR18","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A et alGenome Project Data Processing Subgroup: The sequence alignment\/map format and SAMtools. Bioinformatics 2009; 25: 2078\u20132079.","journal-title":"Bioinformatics"},{"key":"BFejhg2016130_CR19","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H : ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2016130_CR20","doi-asserted-by":"publisher","first-page":"87re83","DOI":"10.1126\/scitranslmed.3002243","volume":"3","author":"MN Bainbridge","year":"2011","unstructured":"Bainbridge MN, Wiszniewski W, Murdock DR et al: Whole-genome sequencing for optimized patient management. Sci Transl Med 2011; 3: 87re83.","journal-title":"Sci Transl Med"},{"key":"BFejhg2016130_CR21","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC : Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073\u20131081.","journal-title":"Nat Protoc"},{"key":"BFejhg2016130_CR22","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1101\/gr.097857.109","volume":"20","author":"KS Pollard","year":"2010","unstructured":"Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A : Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res 2010; 20: 110\u2013121.","journal-title":"Genome Res"},{"key":"BFejhg2016130_CR23","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L et al: A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248\u2013249.","journal-title":"Nat Methods"},{"key":"BFejhg2016130_CR24","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, R\u00f6delsperger C, Schuelke M, Seelow D : MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575\u2013576.","journal-title":"Nat Methods"},{"key":"BFejhg2016130_CR25","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1097\/01.GIM.0000170772.41860.54","volume":"7","author":"YG Tang","year":"2005","unstructured":"Tang YG, Rabinowitz YS, Taylor KD et al: Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1. Genet Med 2005; 7: 397\u2013405.","journal-title":"Genet Med"},{"key":"BFejhg2016130_CR26","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1167\/iovs.08-2382","volume":"50","author":"L Bisceglia","year":"2009","unstructured":"Bisceglia L, De Bonis P, Pizzicoli C et al: Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. Invest Ophthalmol Vis Sci 2009; 50: 1081\u20131086.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2016130_CR27","first-page":"109","volume":"37","author":"Y Bykhovskaya","year":"2014","unstructured":"Bykhovskaya Y, Li X, Taylor KD, Haritunians T, Rotter JI, Rabinowitz YS : Linkage analysis of high-density SNPs confirms keratoconus locus at 5q chromosomal region. Ophthalmic Genet 2014; 37: 109\u2013110.","journal-title":"Ophthalmic Genet"},{"key":"BFejhg2016130_CR28","first-page":"2482","volume":"17","author":"P De Bonis","year":"2011","unstructured":"De Bonis P, Laborante A, Pizzicoli C et al: Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. Mol Vis 2011; 17: 2482\u20132494.","journal-title":"Mol Vis"},{"key":"BFejhg2016130_CR29","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1016\/j.cbd.2007.11.002","volume":"3","author":"DM Irwin","year":"2008","unstructured":"Irwin DM, Tan H : Molecular evolution of the vertebrate hexokinase gene family: identification of a conserved fifth vertebrate hexokinase gene. Comp Biochem Physiol Part D Genomics Proteomics 2008; 3: 96\u2013107.","journal-title":"Comp Biochem Physiol Part D Genomics Proteomics"},{"key":"BFejhg2016130_CR30","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1093\/bioinformatics\/btt606","volume":"30","author":"GH Li","year":"2014","unstructured":"Li GH, Huang JF : Inferring therapeutic targets from heterogeneous data: HKDC1 is a novel potential therapeutic target for cancer. Bioinformatics 2014; 30: 748\u2013752.","journal-title":"Bioinformatics"},{"key":"BFejhg2016130_CR31","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1038\/35042620","volume":"408","author":"BA Schulman","year":"2000","unstructured":"Schulman BA, Carrano AC, Jeffrey PD et al: Insights into SCF ubiquitin ligases from the structure of the Skp1-Skp2 complex. Nature 2000; 408: 381\u2013386.","journal-title":"Nature"},{"key":"BFejhg2016130_CR32","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1167\/iovs.07-0855","volume":"49","author":"JG Lee","year":"2008","unstructured":"Lee JG, Kay EP : Involvement of two distinct ubiquitin E3 ligase systems for p27 degradation in corneal endothelial cells. Invest Ophthalmol Vis Sci 2008; 49: 189\u2013196.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2016130_CR33","doi-asserted-by":"publisher","first-page":"5897","DOI":"10.4049\/jimmunol.169.10.5897","volume":"169","author":"J Maertzdorf","year":"2002","unstructured":"Maertzdorf J, Osterhaus AD, Verjans GM : IL-17 expression in human herpetic stromal keratitis: modulatory effects on chemokine production by corneal fibroblasts. J Immunol 2002; 169: 5897\u20135903.","journal-title":"J Immunol"},{"key":"BFejhg2016130_CR34","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1038\/eye.2015.63","volume":"29","author":"V Galvis","year":"2015","unstructured":"Galvis V, Sherwin T, Tello A, Merayo J, Barrera R, Acera A : Keratoconus: an inflammatory disorder? Eye (Lond) 2015; 29: 843\u2013859.","journal-title":"Eye (Lond)"},{"key":"BFejhg2016130_CR35","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1016\/j.jtos.2015.04.006","volume":"13","author":"RP Wisse","year":"2015","unstructured":"Wisse RP, Kuiper JJ, Gans R, Imhof S, Radstake TR, Van der Lelij A : Cytokine expression in keratoconus and its corneal microenvironment: a systematic review. Ocul Surf 2015; 13: 272\u2013283.","journal-title":"Ocul Surf"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2016130.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2016130","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2016130.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T10:09:08Z","timestamp":1692526148000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2016130"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,5]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["BFejhg2016130"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2016.130","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,5]]},"assertion":[{"value":"9 February 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 July 2016","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 August 2016","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 October 2016","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}