{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:38:46Z","timestamp":1790789926673,"version":"4.1.0"},"reference-count":53,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1097\/ico.0b013e3182821c1c","type":"journal-article","created":{"date-parts":[[2013,2,27]],"date-time":"2013-02-27T12:48:21Z","timestamp":1361969301000},"page":"696-701","source":"Crossref","is-referenced-by-count":35,"title":["An Association Between the Calpastatin (CAST) Gene and Keratoconus"],"prefix":"10.1097","volume":"32","author":[{"given":"Xiaohui","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yelena","family":"Bykhovskaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongming G.","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoana","family":"Picornell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talin","family":"Haritunians","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Aldave","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loretta","family":"Szczotka-Flynn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sudha K.","family":"Iyengar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome I.","family":"Rotter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kent D.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaron S.","family":"Rabinowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-38-20210204","doi-asserted-by":"crossref","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":"R2-38-20210204","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1111\/j.1600-0420.2007.00981.x","article-title":". Incidence and prevalence of keratoconus in Denmark.","volume":"85","author":"Nielsen","year":"2007","journal-title":"Acta Ophthalmol Scand"},{"key":"R3-38-20210204","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":"R5-38-20210204","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/S0002-9394(14)77725-6","article-title":"Hard contact lens wear as an environmental risk in keratoconus.","volume":"85","author":"Gasset","year":"1978","journal-title":"Am J Ophthalmol"},{"key":"R6-38-20210204","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/S0896-1549(03)00099-3","article-title":"The genetics of keratoconus.","volume":"16","author":"Rabinowitz","year":"2003","journal-title":"Ophthalmol Clin North Am"},{"key":"R7-38-20210204","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/00003226-199207000-00005","article-title":". Molecular genetic analysis in autosomal dominant keratoconus.","volume":"11","author":"Rabinowitz","year":"1992","journal-title":"Cornea"},{"key":"R8-38-20210204","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1097\/00003226-199601000-00016","article-title":"3rd, Insler MS. Keratoconus in two pairs of identical twins.","volume":"15","author":"Bechara","year":"1996","journal-title":"Cornea"},{"key":"R9-38-20210204","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1097\/00003226-198402000-00004","article-title":"An analysis of contrast sensitivity in identical twins with keratoconus.","volume":"3","author":"Zadnik","year":"1984","journal-title":"Cornea"},{"key":"R10-38-20210204","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1097\/00003226-199201000-00004","article-title":"Accuracy and precision of the corneal analysis system and the topographic modeling system.","volume":"11","author":"Wilson","year":"1992","journal-title":"Cornea"},{"key":"R11-38-20210204","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/1096-8628(20000828)93:5<403::AID-AJMG11>3.0.CO;2-A","article-title":". Genetic epidemiological study of keratoconus: evidence for major gene determination.","volume":"93","author":"Wang","year":"2000","journal-title":"Am J Med Genet"},{"key":"R12-38-20210204","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1136\/bjo.84.8.834","article-title":"Atopy and keratoconus: a multivariate analysis.","volume":"84","author":"Bawazeer","year":"2000","journal-title":"Br J Ophthalmol"},{"key":"R13-38-20210204","first-page":"3160","article-title":". A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families.","volume":"43","author":"Tyynismaa","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R14-38-20210204","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1007\/s00439-002-0705-7","article-title":". Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia.","volume":"110","author":"Fullerton","year":"2002","journal-title":"Hum Genet"},{"key":"R15-38-20210204","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":"R16-38-20210204","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1016\/j.ajhg.2011.09.014","article-title":". Mutation altering the miR-184 seed region causes familial keratoconus with cataract.","volume":"89","author":"Hughes","year":"2011","journal-title":"Am J Hum Genet"},{"key":"R17-38-20210204","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1136\/jmg.2003.012872","article-title":". A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.","volume":"41","author":"Brancati","year":"2004","journal-title":"J Med Genet"},{"key":"R18-38-20210204","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1167\/iovs.08-2382","article-title":". Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci.","volume":"50","author":"Bisceglia","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R19-38-20210204","doi-asserted-by":"crossref","first-page":"3791","DOI":"10.1167\/iovs.06-0214","article-title":". Two-stage genome-wide linkage scan in keratoconus sib pair families.","volume":"47","author":"Li","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R20-38-20210204","doi-asserted-by":"crossref","first-page":"2820","DOI":"10.1167\/iovs.05-1530","article-title":". No VSX1 gene mutations associated with keratoconus.","volume":"47","author":"Aldave","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R21-38-20210204","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1167\/iovs.04-0533","article-title":". VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.","volume":"46","author":"Bisceglia","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R22-38-20210204","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":"Heon","year":"2002","journal-title":"Hum Mol Genet"},{"key":"R23-38-20210204","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1097\/ICO.0b013e31815a50e7","article-title":". Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.","volume":"27","author":"Tang","year":"2008","journal-title":"Cornea"},{"key":"R24-38-20210204","doi-asserted-by":"crossref","first-page":"8514","DOI":"10.1167\/iovs.11-8261","article-title":". Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.","volume":"52","author":"Burdon","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R25-38-20210204","doi-asserted-by":"crossref","first-page":"4152","DOI":"10.1167\/iovs.11-9268","article-title":". Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies.","volume":"53","author":"Bykhovskaya","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R26-38-20210204","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1093\/hmg\/ddr460","article-title":". A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.","volume":"21","author":"Li","year":"2012","journal-title":"Hum Mol Genet"},{"key":"R27-38-20210204","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1097\/01.GIM.0000170772.41860.54","article-title":". Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1.","volume":"7","author":"Tang","year":"2005","journal-title":"Genet Med"},{"key":"R29-38-20210204","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","article-title":". Haploview: analysis and visualization of LD and haplotype maps.","volume":"21","author":"Barrett","year":"2005","journal-title":"Bioinformatics"},{"key":"R30-38-20210204","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1038\/ng1669","article-title":". Efficiency and power in genetic association studies.","volume":"37","author":"de Bakker","year":"2005","journal-title":"Nat Gen"},{"key":"R31-38-20210204","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/nature02168","article-title":"The International HapMap Project.","volume":"426","year":"2003","journal-title":"Nature"},{"key":"R32-38-20210204","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1038\/nature06258","article-title":"International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs.","volume":"449","author":"Frazer","year":"2007","journal-title":"Nature"},{"key":"R33-38-20210204","doi-asserted-by":"crossref","first-page":"641","DOI":"10.2217\/14622416.7.4.641","article-title":". Whole-genome genotyping of haplotype tag single nucleotide polymorphisms.","volume":"7","author":"Gunderson","year":"2006","journal-title":"Pharmacogenomics"},{"key":"R34-38-20210204","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1093\/bioinformatics\/btp710","article-title":"GWAF: an R package for genome-wide association analyses with family data.","volume":"26","author":"Chen","year":"2010","journal-title":"Bioinformatics"},{"key":"R35-38-20210204","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":". PLINK: a tool set for whole-genome association and population-based linkage analyses.","volume":"81","author":"Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"key":"R36-38-20210204","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1093\/bioinformatics\/btq419","article-title":". LocusZoom: regional visualization of genome-wide association scan results.","volume":"26","author":"Pruim","year":"2010","journal-title":"Bioinformatics"},{"key":"R37-38-20210204","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/nature07451","article-title":"Calcium-bound structure of calpain and its mechanism of inhibition by calpastatin.","volume":"456","author":"Hanna","year":"2008","journal-title":"Nature"},{"key":"R38-38-20210204","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1076\/ceyr.17.11.1037.5232","article-title":". Lp82 calpain during rat lens maturation and cataract formation.","volume":"17","author":"Shearer","year":"1998","journal-title":"Curr Eye Res"},{"key":"R39-38-20210204","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.exer.2005.06.011","article-title":". Biochemical properties of lens-specific calpain Lp85.","volume":"82","author":"Shih","year":"2006","journal-title":"Exp Eye Res"},{"key":"R40-38-20210204","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0167-4781(01)00212-3","article-title":". Different expression patterns for ubiquitous calpains and Capn3 splice variants in monkey ocular tissues.","volume":"1519","author":"Nakajima","year":"2001","journal-title":"Biochim Biophys Acta"},{"key":"R41-38-20210204","doi-asserted-by":"crossref","first-page":"2413","DOI":"10.1056\/NEJMra043361","article-title":"Calpains and disease.","volume":"352","author":"Zatz","year":"2005","journal-title":"N Engl J Med"},{"key":"R42-38-20210204","doi-asserted-by":"crossref","first-page":"39","DOI":"10.3109\/02713689009000053","article-title":". Calpain and calpastatin in rabbit corneal epithelium.","volume":"9","author":"Shearer","year":"1990","journal-title":"Curr Eye Res"},{"key":"R43-38-20210204","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/0006-8993(93)90513-M","article-title":"Immunohistochemical localization of calpains and calpastatin in the rabbit eye.","volume":"611","author":"Persson","year":"1993","journal-title":"Brain Res"},{"key":"R44-38-20210204","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.abb.2007.05.007","article-title":". Multiple rat brain calpastatin forms are produced by distinct starting points and alternative splicing of the N-terminal exons.","volume":"465","author":"De Tullio","year":"2007","journal-title":"Arch Biochem Biophys"},{"key":"R45-38-20210204","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1093\/oxfordjournals.jbchem.a022733","article-title":". Four types of calpastatin isoforms with distinct amino-terminal sequences are specified by alternative first exons and differentially expressed in mouse tissues.","volume":"128","author":"Takano","year":"2000","journal-title":"J Biochem"},{"key":"R46-38-20210204","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1167\/iovs.04-1148","article-title":"Gene expression profile studies of human keratoconus cornea for NEIBank: a novel cornea-expressed gene and the absence of transcripts for aquaporin 5.","volume":"46","author":"Rabinowitz","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R47-38-20210204","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1111\/j.1349-7006.2000.tb00967.x","article-title":". Isolation of two novel genes, down-regulated in gastric cancer.","volume":"91","author":"Yoshikawa","year":"2000","journal-title":"Jpn J Cancer Res"},{"key":"R48-38-20210204","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1096\/fj.11-187740","article-title":". Mechanistic involvement of the calpain-calpastatin system in Alzheimer neuropathology.","volume":"26","author":"Higuchi","year":"2012","journal-title":"FASEB J"},{"key":"R49-38-20210204","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/sj.bjp.0703860","article-title":"Transcriptional and translational regulation of calpain in the rat heart after myocardial infarctioneffects of AT(1) and AT(2) receptor antagonists and ACE inhibitor.","volume":"132","author":"Sandmann","year":"2001","journal-title":"Br J Pharmacol"},{"key":"R50-38-20210204","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/79876","article-title":". Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.","volume":"26","author":"Horikawa","year":"2000","journal-title":"Nat Genet"},{"key":"R51-38-20210204","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S1357-2725(99)00095-3","article-title":"Calpains and muscular dystrophies.","volume":"32","author":"Tidball","year":"2000","journal-title":"Int J Biochem Cell Biol"},{"key":"R52-38-20210204","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0092-8674(95)90368-2","article-title":". Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.","volume":"81","author":"Richard","year":"1995","journal-title":"Cell"},{"key":"R53-38-20210204","first-page":"277","article-title":". Calpains in the lens and cataractogenesis.","volume":"144","author":"Shearer","year":"2000","journal-title":"Methods Mol Biol"},{"key":"R54-38-20210204","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/j.exer.2006.02.014","article-title":". Low activity by the calpain system in primate lenses causes resistance to calcium-induced proteolysis.","volume":"83","author":"Nakajima","year":"2006","journal-title":"Exp Eye Res"},{"key":"R55-38-20210204","doi-asserted-by":"crossref","first-page":"2645","DOI":"10.1093\/hmg\/11.21.2645","article-title":"Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology.","volume":"11","author":"Spencer","year":"2002","journal-title":"Hum Mol Genet"}],"container-title":["Cornea"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/ICO.0b013e3182821c1c","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T19:34:50Z","timestamp":1621884890000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00003226-201305000-00038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":53,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1097\/ico.0b013e3182821c1c","relation":{},"ISSN":["0277-3740"],"issn-type":[{"value":"0277-3740","type":"print"}],"subject":[],"published":{"date-parts":[[2013,5]]}}}