{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T11:18:04Z","timestamp":1780485484366,"version":"3.54.1"},"reference-count":47,"publisher":"Public Library of Science (PLoS)","issue":"4","license":[{"start":{"date-parts":[[2014,4,23]],"date-time":"2014-04-23T00:00:00Z","timestamp":1398211200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0095037","type":"journal-article","created":{"date-parts":[[2014,4,23]],"date-time":"2014-04-23T22:25:21Z","timestamp":1398291921000},"page":"e95037","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":33,"title":["Posterior Amorphous Corneal Dystrophy Is Associated with a Deletion of Small Leucine-rich Proteoglycans on Chromosome 12"],"prefix":"10.1371","volume":"9","author":[{"given":"Michelle J.","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo F.","family":"Frausto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George O. D.","family":"Rosenwasser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Bui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek J.","family":"Le","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Aldave","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2014,4,23]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"4006","DOI":"10.1167\/iovs.09-4067","article-title":"Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC","volume":"51","author":"AJ Aldave","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/0002-9394(77)90127-1","article-title":"Posterior amorphous corneal dystrophy","volume":"83","author":"EF Carpel","year":"1977","journal-title":"Am J Ophthalmol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1097\/00003226-200203000-00020","article-title":"Posterior amorphous corneal dystrophy: ultrasound biomicroscopy findings in two cases","volume":"21","author":"B Castelo Branco","year":"2002","journal-title":"Cornea"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1001\/archopht.1984.01040030186023","article-title":"New findings in posterior amorphous corneal dystrophy","volume":"102","author":"SP Dunn","year":"1984","journal-title":"Arch Ophthalmol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1111\/j.1442-9071.2007.01426.x","article-title":"In vivo confocal microscopy findings in a patient with posterior amorphous corneal dystrophy","volume":"35","author":"U Erdem","year":"2007","journal-title":"Clin Experiment Ophthalmol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/S0002-9394(14)72658-3","article-title":"Posterior amorphous corneal dysgenesis","volume":"120","author":"BB Grimm","year":"1995","journal-title":"Am J Ophthalmol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/S0161-6420(90)32638-6","article-title":"The pathology of posterior amorphous corneal dystrophy","volume":"97","author":"AT Johnson","year":"1990","journal-title":"Ophthalmology"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/S0161-6420(96)30669-6","article-title":"Posterior amorphous corneal dystrophy. A new pedigree with phenotypic variation","volume":"103","author":"CN Moshegov","year":"1996","journal-title":"Ophthalmology"},{"key":"ref9","first-page":"945","article-title":"[Posterior amorphous corneal dystrophy: case report]","volume":"69","author":"LA Oliveira","year":"2006","journal-title":"Arq Bras Oftalmol"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1097\/00003226-199203000-00013","article-title":"Posterior amorphous corneal dystrophy. An ultrastructural study of a variant with histopathological features of an endothelial dystrophy","volume":"11","author":"SI Roth","year":"1992","journal-title":"Cornea"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.exer.2010.06.021","article-title":"The molecular basis of corneal transparency","volume":"91","author":"JR Hassell","year":"2010","journal-title":"Exp Eye Res"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1146\/annurev.biochem.67.1.609","article-title":"Matrix proteoglycans: from molecular design to cellular function","volume":"67","author":"RV Iozzo","year":"1998","journal-title":"Annu Rev Biochem"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1001\/archopht.123.9.1248","article-title":"Clinical and molecular characterization of a family with autosomal recessive cornea plana","volume":"123","author":"ND Ebenezer","year":"2005","journal-title":"Arch Ophthalmol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1080\/13816810490514397","article-title":"A novel KERA mutation associated with autosomal recessive cornea plana","volume":"25","author":"A Khan","year":"2004","journal-title":"Ophthalmic Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1136\/bjo.2005.073510","article-title":"Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation","volume":"89","author":"AO Khan","year":"2005","journal-title":"Br J Ophthalmol"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1016\/j.ophtha.2006.04.026","article-title":"Recessive cornea plana in the Kingdom of Saudi Arabia","volume":"113","author":"AO Khan","year":"2006","journal-title":"Ophthalmology"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1080\/13816810902937084","article-title":"Corneal decompensation in recessive cornea plana","volume":"30","author":"AO Khan","year":"2009","journal-title":"Ophthalmic Genet"},{"key":"ref18","first-page":"3118","article-title":"A novel keratocan mutation causing autosomal recessive cornea plana","volume":"42","author":"OJ Lehmann","year":"2001","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref19","first-page":"1339","article-title":"Study of p.N247S KERA mutation in a British family with cornea plana","volume":"13","author":"P Liskova","year":"2007","journal-title":"Mol Vis"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/75664","article-title":"Mutations in KERA, encoding keratocan, cause cornea plana","volume":"25","author":"NS Pellegata","year":"2000","journal-title":"Nat Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"5578","DOI":"10.1167\/iovs.09-4933","article-title":"Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy","volume":"51","author":"C Bredrup","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.ajo.2006.03.064","article-title":"A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy","volume":"142","author":"E Rodahl","year":"2006","journal-title":"Am J Ophthalmol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1167\/iovs.04-0804","article-title":"Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene","volume":"46","author":"C Bredrup","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ymeth.2009.12.007","article-title":"Accurate and objective copy number profiling using real-time quantitative PCR","volume":"50","author":"B D'Haene","year":"2010","journal-title":"Methods"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/gepi.20584","article-title":"Linkage analysis without defined pedigrees","volume":"35","author":"AG Day-Williams","year":"2011","journal-title":"Genet Epidemiol"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1186\/1471-2164-9-633","article-title":"A comprehensive collection of experimentally validated primers for Polymerase Chain Reaction quantitation of murine transcript abundance","volume":"9","author":"A Spandidos","year":"2008","journal-title":"BMC Genomics"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"D792","DOI":"10.1093\/nar\/gkp1005","article-title":"PrimerBank: a resource of human and mouse PCR primer pairs for gene expression detection and quantification","volume":"38","author":"A Spandidos","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"e154","DOI":"10.1093\/nar\/gng154","article-title":"A PCR primer bank for quantitative gene expression analysis","volume":"31","author":"X Wang","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"21672","DOI":"10.1074\/jbc.M301169200","article-title":"Keratocan-deficient mice display alterations in corneal structure","volume":"278","author":"CY Liu","year":"2003","journal-title":"J Biol Chem"},{"key":"ref30","first-page":"3365","article-title":"Corneal opacity in lumican-null mice: defects in collagen fibril structure and packing in the posterior stroma","volume":"41","author":"S Chakravarti","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1002\/dvdy.20868","article-title":"Collagen fibril assembly during postnatal development and dysfunctional regulation in the lumican-deficient murine cornea","volume":"235","author":"S Chakravarti","year":"2006","journal-title":"Dev Dyn"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1083\/jcb.141.5.1277","article-title":"Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican","volume":"141","author":"S Chakravarti","year":"1998","journal-title":"J Cell Biol"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"25541","DOI":"10.1074\/jbc.M500249200","article-title":"Keratocan, a cornea-specific keratan sulfate proteoglycan, is regulated by lumican","volume":"280","author":"EC Carlson","year":"2005","journal-title":"J Biol Chem"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1083\/jcb.136.3.729","article-title":"Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility","volume":"136","author":"KG Danielson","year":"1997","journal-title":"J Cell Biol"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"8888","DOI":"10.1074\/jbc.M806590200","article-title":"Genetic evidence for the coordinated regulation of collagen fibrillogenesis in the cornea by decorin and biglycan","volume":"284","author":"G Zhang","year":"2009","journal-title":"J Biol Chem"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1101\/gr.9.5.449","article-title":"Genomic characterization of human DSPG3","volume":"9","author":"M Deere","year":"1999","journal-title":"Genome Res"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1002\/(SICI)1097-0177(199912)216:4\/5<499::AID-DVDY18>3.0.CO;2-S","article-title":"Expression and localization of PG-Lb\/epiphycan during mouse development","volume":"216","author":"J Johnson","year":"1999","journal-title":"Dev Dyn"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.joca.2009.11.006","article-title":"Phenotypic characterization of epiphycan-deficient and epiphycan\/biglycan double-deficient mice","volume":"18","author":"S Nuka","year":"2010","journal-title":"Osteoarthritis Cartilage"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1086\/510560","article-title":"A comprehensive analysis of common copy-number variations in the human genome","volume":"80","author":"KK Wong","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ajhg.2008.12.014","article-title":"Population analysis of large copy number variants and hotspots of human genetic disease","volume":"84","author":"A Itsara","year":"2009","journal-title":"Am J Hum Genet"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S0945-053X(03)00039-8","article-title":"The keratocan gene is expressed in both ocular and non-ocular tissues during early chick development","volume":"22","author":"AH Conrad","year":"2003","journal-title":"Matrix Biol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"2094","DOI":"10.1167\/iovs.02-1059","article-title":"Response of lens epithelial cells to injury: role of lumican in epithelial-mesenchymal transition","volume":"44","author":"S Saika","year":"2003","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1080\/13816810701351321","article-title":"Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2","volume":"28","author":"AJ Aldave","year":"2007","journal-title":"Ophthalmic Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3109\/13816819709057116","article-title":"Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature","volume":"18","author":"A Sigler-Villanueva","year":"1997","journal-title":"Ophthalmic Genet"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.ajo.2005.09.024","article-title":"Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities","volume":"141","author":"ML Tocyap","year":"2006","journal-title":"Am J Ophthalmol"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1146\/annurev.genom.9.081307.164217","article-title":"Copy number variation in human health, disease, and evolution","volume":"10","author":"F Zhang","year":"2009","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1167\/iovs.04-1453","article-title":"Detection and quantification of sulfated disaccharides from keratan sulfate and chondroitin\/dermatan sulfate during chick corneal development by ESI-MS\/MS","volume":"46","author":"Y Zhang","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0095037","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T05:23:54Z","timestamp":1648877034000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0095037"}},"subtitle":[],"editor":[{"given":"Andreas R.","family":"Janecke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2014,4,23]]},"references-count":47,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2014,4,23]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0095037","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,23]]}}}