{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T07:13:50Z","timestamp":1792653230506,"version":"4.5.0"},"reference-count":312,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T00:00:00Z","timestamp":1632441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000921","name":"European Cooperation in Science and Technology","doi-asserted-by":"publisher","award":["CA18116"],"award-info":[{"award-number":["CA18116"]}],"id":[{"id":"10.13039\/501100000921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020027","name":"Dr Rolf M Schwiete Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020027","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Ocular Surface"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1016\/j.jtos.2021.09.001","type":"journal-article","created":{"date-parts":[[2021,9,11]],"date-time":"2021-09-11T10:53:15Z","timestamp":1631357595000},"page":"245-266","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":82,"special_numbering":"C","title":["Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions"],"prefix":"10.1016","volume":"22","author":[{"given":"L.","family":"Latta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.C.","family":"Figueiredo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Ashery-Padan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M.","family":"Collinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Daniels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Szentm\u00e1ry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Sol\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Shalom-Feuerstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Lako","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Xapelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Aberdam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Lagali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jtos.2021.09.001_bib1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s13353-017-0426-1","article-title":"The genetics of aniridia - simple things become complicated","volume":"59","author":"Wawrocka","year":"2018","journal-title":"J Appl Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib2","doi-asserted-by":"crossref","DOI":"10.3390\/genes10121050","article-title":"The spectrum of PAX6 mutations and genotype-phenotype correlations in the eye","volume":"10","author":"Lima Cunha","year":"2019","journal-title":"Genes"},{"key":"10.1016\/j.jtos.2021.09.001_bib3","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/j.ajhg.2016.03.004","article-title":"Recessive and dominant de novo ITPR1 mutations cause Gillespie syndrome","volume":"98","author":"Gerber","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib4","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ophtha.2019.09.034","article-title":"em>PAX6<\/em> mutational status determines aniridia-associated keratopathy phenotype","volume":"127","author":"Lagali","year":"2020","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib5","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/S0002-9394(14)72167-1","article-title":"Ocular surface abnormalities in aniridia","volume":"120","author":"Nishida","year":"1995","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib6","doi-asserted-by":"crossref","first-page":"5333","DOI":"10.1167\/iovs.13-11780","article-title":"In vivo morphology of the limbal palisades of vogt correlates with progressive stem cell deficiency in aniridia-related keratopathy","volume":"54","author":"Lagali","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib7","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.jtos.2017.11.003","article-title":"Stage-related central corneal epithelial transformation in congenital aniridia-associated keratopathy","volume":"16","author":"Lagali","year":"2018","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib8","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1093\/hmg\/5.Supplement_1.1471","article-title":"Transcription factor genes and the developing eye: a genetic perspective","author":"Freund","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib9","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1038\/355750a0","article-title":"Mouse Small eye results from mutations in a paired-like homeobox-containing gene","volume":"355","author":"Hill","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.jtos.2021.09.001_bib10","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/0027-5107(79)90113-1","article-title":"Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation","volume":"63","author":"Lyon","year":"1979","journal-title":"Mutat Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib11","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1126\/science.2173141","article-title":"A mouse model of the aniridia-Wilms tumor deletion syndrome","volume":"250","author":"Glaser","year":"1990","journal-title":"Science"},{"key":"10.1016\/j.jtos.2021.09.001_bib12","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/BF00304672","article-title":"Development of Dickie's small eye: an early lethal mutation in the house mouse","volume":"161","author":"Theiler","year":"1980","journal-title":"Anat Embryol"},{"key":"10.1016\/j.jtos.2021.09.001_bib13","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1093\/hmg\/11.7.755","article-title":"Novel ENU-induced eye mutations in the mouse: models for human eye disease","volume":"11","author":"Thaung","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib14","first-page":"199","article-title":"Further genetic analysis of two autosomal dominant mouse eye defects, Ccw and Pax6(coop)","volume":"6","author":"Lyon","year":"2000","journal-title":"Mol Vis"},{"key":"10.1016\/j.jtos.2021.09.001_bib15","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1093\/genetics\/159.4.1689","article-title":"Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus","volume":"159","author":"Favor","year":"2001","journal-title":"Genetics"},{"key":"10.1016\/j.jtos.2021.09.001_bib16","doi-asserted-by":"crossref","first-page":"4671","DOI":"10.1167\/iovs.04-1407","article-title":"Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters","volume":"46","author":"Graw","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib17","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1749-8104-4-19","article-title":"Normal ventral telencephalic expression of Pax6 is required for normal development of thalamocortical axons in embryonic mice","volume":"4","author":"Simpson","year":"2009","journal-title":"Neural Dev"},{"key":"10.1016\/j.jtos.2021.09.001_bib18","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/387406a0","article-title":"Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas","volume":"387","author":"St-Onge","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.jtos.2021.09.001_bib19","doi-asserted-by":"crossref","first-page":"2701","DOI":"10.1101\/gad.184000","article-title":"Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye","volume":"14","author":"Ashery-Padan","year":"2000","journal-title":"Genes Dev"},{"key":"10.1016\/j.jtos.2021.09.001_bib20","doi-asserted-by":"crossref","first-page":"108371","DOI":"10.1016\/j.exer.2020.108371","article-title":"Morphometric analysis of the lens in human aniridia and mouse Small eye","volume":"203","author":"Voskresenskaya","year":"2021","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib21","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1002\/dvdy.21528","article-title":"PAX6 dosage effects on corneal development, growth, and wound healing","volume":"237","author":"Dor\u00e0","year":"2008","journal-title":"Dev Dynam : an official publication of the American Association of Anatomists"},{"key":"10.1016\/j.jtos.2021.09.001_bib22","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/S0092-8674(00)80078-1","article-title":"Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities","volume":"86","author":"Schedl","year":"1996","journal-title":"Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib23","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.exer.2005.02.002","article-title":"Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6+\/\u2212 mouse model of aniridia","volume":"81","author":"Ramaesh","year":"2005","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib24","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1242\/jcs.00441","article-title":"Requirement for Pax6 in corneal morphogenesis: a role in adhesion","volume":"116","author":"Davis","year":"2003","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib25","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1038\/s41434-018-0043-6","article-title":"Epistasis between Pax6(Sey) and genetic background reinforces the value of defined hybrid mouse models for therapeutic trials","volume":"25","author":"Hickmott","year":"2018","journal-title":"Gene Ther"},{"key":"10.1016\/j.jtos.2021.09.001_bib26","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.brainres.2007.03.043","article-title":"Iris development in vertebrates; genetic and molecular considerations","volume":"1192","author":"Davis-Silberman","year":"2008","journal-title":"Brain Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib27","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1007\/s00439-014-1481-x","article-title":"Whole exome sequence analysis of Peters anomaly","volume":"133","author":"Weh","year":"2014","journal-title":"Hum Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib28","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1167\/iovs.02-0576","article-title":"Corneal abnormalities in Pax6 +\/\u2212 small eye mice mimic human aniridia-related keratopathy","volume":"44","author":"Ramaesh","year":"2003","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib29","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.jtos.2019.11.002","article-title":"Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations","volume":"18","author":"Lagali","year":"2020","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib30","first-page":"5978293","article-title":"Phenotypic variation in a four-generation family with aniridia carrying a novel PAX6 mutation","author":"Wang","year":"2018","journal-title":"J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib31","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/0959-437X(95)80029-8","article-title":"New perspectives on eye evolution","volume":"5","author":"Halder","year":"1995","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.jtos.2021.09.001_bib32","doi-asserted-by":"crossref","first-page":"4213","DOI":"10.1242\/dev.126.19.4213","article-title":"Pax6 induces ectopic eyes in a vertebrate","volume":"126","author":"Chow","year":"1999","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib33","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1242\/dev.113.4.1435","article-title":"Pax-6, a murine paired box gene, is expressed in the developing CNS","volume":"113","author":"Walther","year":"1991","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib34","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1101\/gad.11.13.1662","article-title":"Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development","volume":"11","author":"Sander","year":"1997","journal-title":"Genes Dev"},{"key":"10.1016\/j.jtos.2021.09.001_bib35","doi-asserted-by":"crossref","first-page":"33381","DOI":"10.1074\/jbc.M110.147215","article-title":"Pax6 controls the expression of critical genes involved in pancreatic \u03b1 cell differentiation and function","volume":"285","author":"Gosmain","year":"2010","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtos.2021.09.001_bib36","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.exer.2016.04.017","article-title":"PAX6: 25th anniversary and more to learn","volume":"156","author":"Cvekl","year":"2017","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib37","doi-asserted-by":"crossref","first-page":"2136","DOI":"10.1210\/en.2008-1006","article-title":"Pax6 haploinsufficiency causes abnormal metabolic homeostasis by down-regulating glucagon-like peptide 1 in mice","volume":"150","author":"Ding","year":"2009","journal-title":"Endocrinology"},{"key":"10.1016\/j.jtos.2021.09.001_bib38","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/90042","article-title":"PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans","volume":"28","author":"Sisodiya","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib39","doi-asserted-by":"crossref","DOI":"10.1111\/jsr.12982","article-title":"Aniridia with PAX6 mutations and narcolepsy","volume":"29","author":"Berntsson","year":"2020","journal-title":"J Sleep Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib40","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.preteyeres.2012.04.002","article-title":"Pax6: a multi-level regulator of ocular development","volume":"31","author":"Shaham","year":"2012","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib41","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1186\/s13104-018-3812-9","article-title":"A conditional Pax6 depletion study with no morphological effect on the adult mouse corneal epithelium","volume":"11","author":"Dor\u00e0","year":"2018","journal-title":"BMC Res Notes"},{"key":"10.1016\/j.jtos.2021.09.001_bib42","doi-asserted-by":"crossref","first-page":"5155","DOI":"10.1242\/dev.00723","article-title":"Specification of the vertebrate eye by a network of eye field transcription factors","volume":"130","author":"Zuber","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib43","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1242\/dev.121.5.1433","article-title":"The role of Pax-6 in eye and nasal development","volume":"121","author":"Grindley","year":"1995","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib44","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1002\/bdrc.21095","article-title":"Neural crest derivatives in ocular development: discerning the eye of the storm","volume":"105","author":"Williams","year":"2015","journal-title":"Birth Defects Res C Embryo Today"},{"key":"10.1016\/j.jtos.2021.09.001_bib45","series-title":"Neural crest cells","first-page":"189","article-title":"Chapter 10 - neural crest cells in ocular development","author":"Jasrapuria-Agrawal","year":"2014"},{"key":"10.1016\/j.jtos.2021.09.001_bib46","series-title":"Progress in molecular biology and translational science","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/bs.pmbts.2015.04.003","article-title":"Chapter four - corneal development: different cells from a common progenitor","author":"Lwigale","year":"2015"},{"key":"10.1016\/j.jtos.2021.09.001_bib47","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/bies.20009","article-title":"Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases","volume":"26","author":"Cvekl","year":"2004","journal-title":"Bioessays"},{"key":"10.1016\/j.jtos.2021.09.001_bib48","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/B978-0-12-385044-7.00003-5","article-title":"Eye morphogenesis and patterning of the optic vesicle","volume":"93","author":"Fuhrmann","year":"2010","journal-title":"Curr Top Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2007.01.045","article-title":"Molecular mechanisms of optic vesicle development: complexities, ambiguities and controversies","volume":"305","author":"Adler","year":"2007","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib50","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1242\/dev.120022","article-title":"Wnt ligands from the embryonic surface ectoderm regulate 'bimetallic strip' optic cup morphogenesis in mouse","volume":"142","author":"Carpenter","year":"2015","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib51","doi-asserted-by":"crossref","first-page":"2265","DOI":"10.1093\/hmg\/ddi231","article-title":"Genetic dissection of Pax6 dosage requirements in the developing mouse eye","volume":"14","author":"Davis-Silberman","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib52","doi-asserted-by":"crossref","first-page":"4959","DOI":"10.1242\/dev.096990","article-title":"RPE specification in the chick is mediated by surface ectoderm-derived BMP and Wnt signalling","volume":"140","author":"Steinfeld","year":"2013","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib53","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1242\/dev.127.5.945","article-title":"Different roles for Pax6 in the optic vesicle and facial epithelium mediate early morphogenesis of the murine eye","volume":"127","author":"Collinson","year":"2000","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib54","doi-asserted-by":"crossref","first-page":"4432","DOI":"10.1242\/dev.107953","article-title":"The cellular and molecular mechanisms of vertebrate lens development","volume":"141","author":"Cvekl","year":"2014","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib55","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0012-1606(03)00058-7","article-title":"Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene","volume":"257","author":"Aota","year":"2003","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib56","doi-asserted-by":"crossref","first-page":"2521","DOI":"10.1242\/dev.125.13.2521","article-title":"Involvement of Sox1, 2 and 3 in the early and subsequent molecular events of lens induction","volume":"125","author":"Kamachi","year":"1998","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib57","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1242\/dev.032888","article-title":"Pax6 is essential for lens fiber cell differentiation","volume":"136","author":"Shaham","year":"2009","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib58","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.tig.2017.08.001","article-title":"Signaling and gene regulatory networks in mammalian lens development","volume":"33","author":"Cvekl","year":"2017","journal-title":"Trends Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib59","doi-asserted-by":"crossref","first-page":"4200","DOI":"10.1167\/iovs.05-0691","article-title":"Fate maps of neural crest and mesoderm in the mammalian eye","volume":"46","author":"Gage","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib60","doi-asserted-by":"crossref","first-page":"2569","DOI":"10.1242\/dev.121.8.2569","article-title":"Cranial paraxial mesoderm and neural crest cells of the mouse embryo: co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches","volume":"121","author":"Trainor","year":"1995","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib61","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1634\/stemcells.2006-0156","article-title":"Isolation of multipotent neural crest-derived stem cells from the adult mouse cornea","volume":"24","author":"Yoshida","year":"2006","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib62","first-page":"312","article-title":"Prenatal and postnatal cellularity of the human corneal endothelium. A quantitative histologic study","volume":"25","author":"Murphy","year":"1984","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib63","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0014-4835(79)90164-7","article-title":"Origins of avian ocular and periocular tissues","volume":"29","author":"Johnston","year":"1979","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib64","first-page":"1","article-title":"Periocular mesenchyme: neural crest and mesodermal interactions","volume":"1","author":"Noden","year":"1993","journal-title":"Duane's fundations of clinical ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib65","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1111\/j.1365-2443.2006.00992.x","article-title":"Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases","volume":"11","author":"Kanakubo","year":"2006","journal-title":"Gene Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib66","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/jnr.24245","article-title":"Relationship between neural crest cell specification and rare ocular diseases","volume":"97","author":"Akula","year":"2019","journal-title":"J Neurosci Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib67","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/1471-213X-1-3","article-title":"The mouse anterior chamber angle and trabecular meshwork develop without cell death","volume":"1","author":"Smith","year":"2001","journal-title":"BMC Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib68","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/BF00143888","article-title":"Periods of development of the normal human chamber angle","volume":"51","author":"Rem\u00e9","year":"1981","journal-title":"Doc Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib69","doi-asserted-by":"crossref","first-page":"727","DOI":"10.3109\/02713688909025808","article-title":"A morphological study of the inner surface of the anterior chamber angle in pre and postnatal human eyes","volume":"8","author":"McMenamin","year":"1989","journal-title":"Curr Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib70","series-title":"A single cell atlas of human cornea that defines its development, limbal progenitor cells and their interactions with the immune cells Ocul Surf","author":"Collin","year":"2021"},{"key":"10.1016\/j.jtos.2021.09.001_bib71","doi-asserted-by":"crossref","first-page":"2781","DOI":"10.1002\/stem.209","article-title":"Stem cell activity in the developing human cornea","volume":"27","author":"Davies","year":"2009","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib72","first-page":"178","article-title":"A re-evaluation of corneal development","volume":"86","author":"Sevel","year":"1988","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1016\/j.jtos.2021.09.001_bib73","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1167\/iovs.16-20737","article-title":"The corneal epithelial barrier and its developmental role in isolating corneal epithelial and conjunctival cells from one AnotherDevelopment of the corneal-conjunctival barrier","volume":"58","author":"Kubilus","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib74","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1076\/ceyr.24.6.430.8599","article-title":"Changes in connexin43 in early ocular surface development","volume":"24","author":"Wolosin","year":"2002","journal-title":"Curr Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib75","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1387\/ijdb.041876jw","article-title":"Ocular surface epithelial and stem cell development","volume":"48","author":"Wolosin","year":"2004","journal-title":"Int J Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib76","first-page":"1903","article-title":"Conjunctival transdifferentiation is due to the incomplete removal of limbal basal epithelium","volume":"31","author":"Kruse","year":"1990","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib77","first-page":"1814","article-title":"In vitro growth and differentiation of rabbit bulbar, fornix, and palpebral conjunctival epithelia. Implications on conjunctival epithelial transdifferentiation and stem cells","volume":"34","author":"Wei","year":"1993","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib78","first-page":"523","article-title":"Rabbit conjunctival and corneal epithelial cells belong to two separate lineages","volume":"37","author":"Wei","year":"1996","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib79","doi-asserted-by":"crossref","first-page":"5082","DOI":"10.1523\/JNEUROSCI.16-16-05082.1996","article-title":"Role of olf-1 and pax-6 transcription factors in neurodevelopment","volume":"16","author":"Davis","year":"1996","journal-title":"J Neurosci"},{"key":"10.1016\/j.jtos.2021.09.001_bib80","first-page":"108","article-title":"The Pax-6 homeobox gene is expressed throughout the corneal and conjunctival epithelia","volume":"38","author":"Koroma","year":"1997","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib81","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1083\/jcb.145.4.769","article-title":"Location and clonal analysis of stem cells and their differentiated progeny in the human ocular surface","volume":"145","author":"Pellegrini","year":"1999","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib82","first-page":"753","article-title":"Clonal analysis of the in vivo differentiation potential of keratinocytes","volume":"38","author":"Wei","year":"1997","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib83","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ajpath.2013.03.017","article-title":"Spdef null mice lack conjunctival goblet cells and provide a model of dry eye","volume":"183","author":"Marko","year":"2013","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jtos.2021.09.001_bib84","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/BF02170014","article-title":"Ultrastructural observations on the development of the human conjunctival epithelium","volume":"226","author":"Sellheyer","year":"1988","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib85","first-page":"169","article-title":"Morphological and histochemical studies of goblet cells in developing human conjunctiva","volume":"36","author":"Miyashita","year":"1992","journal-title":"Jpn J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib86","first-page":"2127","article-title":"Development of conjunctival goblet cells and their neuroreceptor subtype expression","volume":"41","author":"R\u00edos","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib87","first-page":"22","article-title":"Ocular surface development and gene expression","author":"Swamynathan","year":"2013","journal-title":"Journal of Ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib88","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1002\/dvdy.24165","article-title":"The homeodomain transcription factor PITX2 is required for specifying correct cell fates and establishing angiogenic privilege in the developing cornea","volume":"243","author":"Gage","year":"2014","journal-title":"Dev Dynam"},{"key":"10.1016\/j.jtos.2021.09.001_bib89","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ydbio.2008.02.030","article-title":"The canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development","volume":"317","author":"Gage","year":"2008","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib90","first-page":"2199","article-title":"Localization of corneal epithelial stem cells in the developing rat","volume":"33","author":"Chung","year":"1992","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib91","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1387\/ijdb.041860jz","article-title":"Corneal development associated with eyelid opening","volume":"48","author":"Zieske","year":"2004","journal-title":"Int J Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib92","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1167\/iovs.05-1182","article-title":"Expression of keratin 12 and maturation of corneal epithelium during development and postnatal growth","volume":"47","author":"Tanifuji-Terai","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib93","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1006\/exer.1998.0593","article-title":"Corneal epithelium-specific mouse keratin K12 promoter","volume":"68","author":"Liu","year":"1999","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib94","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/0922-3371(90)90103-4","article-title":"Appearance of the keratin pair K3\/K12 during embryonic and adult corneal epithelial differentiation in the chick and in the rabbit","volume":"32","author":"Chaloin-Dufau","year":"1990","journal-title":"Cell Differ Dev"},{"key":"10.1016\/j.jtos.2021.09.001_bib95","doi-asserted-by":"crossref","first-page":"963","DOI":"10.3109\/02713689309029222","article-title":"Cornea-specific expression of K12 keratin during mouse development","volume":"12","author":"Liu","year":"1993","journal-title":"Curr Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib96","doi-asserted-by":"crossref","first-page":"805","DOI":"10.3109\/02713689409025135","article-title":"Expression of keratins K12, K4 and K14 during development of ocular surface epithelium","volume":"13","author":"Kurpakus","year":"1994","journal-title":"Curr Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib97","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1634\/stemcells.22-3-355","article-title":"Characterization of putative stem cell phenotype in human limbal epithelia","volume":"22","author":"Chen","year":"2004","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib98","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1002\/dvdy.20050","article-title":"Regional distribution of \u03b19\u03b21 integrin within the limbus of the mouse ocular surface","volume":"230","author":"Pajoohesh-Ganji","year":"2004","journal-title":"Dev Dynam"},{"key":"10.1016\/j.jtos.2021.09.001_bib99","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1002\/stem.2767","article-title":"Bmi1+ progenitor cell dynamics in murine cornea during homeostasis and wound healing","volume":"36","author":"Kalha","year":"2018","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib100","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1007\/s12015-010-9199-1","article-title":"Tissue-regenerating, vision-restoring corneal epithelial stem cells","volume":"7","author":"Echevarria","year":"2011","journal-title":"Stem Cell Reviews and Reports"},{"key":"10.1016\/j.jtos.2021.09.001_bib101","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/dvdy.10124","article-title":"Clonal analysis of patterns of growth, stem cell activity, and cell movement during the development and maintenance of the murine corneal epithelium","volume":"224","author":"Collinson","year":"2002","journal-title":"Dev Dynam"},{"key":"10.1016\/j.jtos.2021.09.001_bib102","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.scr.2011.08.007","article-title":"Rare corneal clones in mice suggest an age-related decrease of stem cell activity and support the limbal epithelial stem cell hypothesis","volume":"8","author":"Douvaras","year":"2012","journal-title":"Stem Cell Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib103","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/stem.1840","article-title":"Lineage tracing of stem and progenitor cells of the murine corneal epithelium","volume":"33","author":"Amitai-Lange","year":"2015","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib104","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/stem.1769","article-title":"Tracing the fate of limbal epithelial progenitor cells in the murine cornea","volume":"33","author":"Di Girolamo","year":"2015","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib105","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1016\/j.stemcr.2017.08.015","article-title":"Keratin-14-positive precursor cells spawn a population of migratory corneal epithelia that maintain tissue mass throughout life","volume":"9","author":"Richardson","year":"2017","journal-title":"Stem cell reports"},{"key":"10.1016\/j.jtos.2021.09.001_bib106","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.celrep.2017.12.040","article-title":"Corneal-committed cells restore the stem cell pool and tissue boundary following injury","volume":"22","author":"Nasser","year":"2018","journal-title":"Cell Rep"},{"key":"10.1016\/j.jtos.2021.09.001_bib107","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1016\/j.stem.2021.04.003","article-title":"Discrete limbal epithelial stem cell populations mediate corneal homeostasis and wound healing","volume":"28","author":"Altshuler","year":"2021","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib108","first-page":"2021","article-title":"Soft limbal niche maintains stem cell compartmentalization and function through YAP","author":"Bhattacharya","year":"2021","journal-title":"bioRxiv"},{"key":"10.1016\/j.jtos.2021.09.001_bib109","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1167\/iovs.10-5902","article-title":"Innervation of the mouse cornea during development","volume":"52","author":"McKenna","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib110","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1006\/dbio.2001.0450","article-title":"Embryonic origin of avian corneal sensory nerves","volume":"239","author":"Lwigale","year":"2001","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib111","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1242\/dev.127.3.533","article-title":"Formation of corneal endothelium is essential for anterior segment development - a transgenic mouse model of anterior segment dysgenesis","volume":"127","author":"Reneker","year":"2000","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib112","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2016.00138","article-title":"WNT\/\u03b2-Catenin signaling in vertebrate eye development","volume":"4","author":"Fujimura","year":"2016","journal-title":"Frontiers in Cell and Developmental Biology"},{"key":"10.1016\/j.jtos.2021.09.001_bib113","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0925-4773(97)00097-X","article-title":"Distributions of PAX6 and PAX7 proteins suggest their involvement in both early and late phases of chick brain development","volume":"66","author":"Kawakami","year":"1997","journal-title":"Mech Dev"},{"key":"10.1016\/j.jtos.2021.09.001_bib114","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1136\/bjo.83.6.723","article-title":"PAX6 expression in the developing human eye","volume":"83","author":"Nishina","year":"1999","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib115","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/ar.1091680109","article-title":"The prenatal development of the mouse eye","volume":"168","author":"Pei","year":"1970","journal-title":"Anat Rec"},{"key":"10.1016\/j.jtos.2021.09.001_bib116","first-page":"451","article-title":"Electron microscopic observations of the early development of the human corneal endothelium and descemet's membrane","volume":"157","author":"Wulle","year":"1969","journal-title":"Ophthalmologica"},{"key":"10.1016\/j.jtos.2021.09.001_bib117","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1167\/iovs.61.6.5","article-title":"Identification of a primary stroma and novel endothelial cell projections in the developing human cornea","volume":"61","author":"Feneck","year":"2020","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib118","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/0014-4835(75)90075-5","article-title":"The prenatal development of the human eye","volume":"21","author":"O'Rahilly","year":"1975","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib119","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1159\/000353648","article-title":"Development of the ciliary body: morphological changes in the distal portion of the optic cup in the human","volume":"198","author":"Peces-Pe\u00f1a","year":"2013","journal-title":"Cells Tissues Organs"},{"key":"10.1016\/j.jtos.2021.09.001_bib120","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/0012-1606(75)90339-5","article-title":"Formation of the endothelium of the avian cornea: a study of cell movement in vivo","volume":"42","author":"Bard","year":"1975","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib121","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/BF00410509","article-title":"The development of the irido-corneal angle in the chick embryo","volume":"212","author":"Renard","year":"1980","journal-title":"Albrecht Von Graefes Arch Klin Exp Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib122","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1136\/bjo.2005.080846","article-title":"Proteomic analysis of human meibomian gland secretions","volume":"90","author":"Tsai","year":"2006","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib123","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ydbio.2010.01.027","article-title":"Retinoic acid signaling in perioptic mesenchyme represses Wnt signaling via induction of Pitx2 and Dkk2","volume":"340","author":"Kumar","year":"2010","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib124","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1006\/dbio.2000.9652","article-title":"Altered retinoid signaling in the heads of small eye mouse embryos","volume":"221","author":"Enwright","year":"2000","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib125","article-title":"Abnormal neovascular and proliferative conjunctival phenotype in limbal stem cell deficiency is associated with altered microRNA and gene expression modulated by PAX6 mutational status in congenital aniridia","author":"Latta","year":"2020","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib126","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aaz4894","article-title":"Gene dosage manipulation alleviates manifestations of hereditary <em>PAX6<\/em> haploinsufficiency in mice","volume":"12","author":"Rabiee","year":"2020","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.jtos.2021.09.001_bib127","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1038\/nature07406","article-title":"Oligopotent stem cells are distributed throughout the mammalian ocular surface","volume":"456","author":"Majo","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.jtos.2021.09.001_bib128","doi-asserted-by":"crossref","first-page":"3156","DOI":"10.1073\/pnas.061032098","article-title":"p63 identifies keratinocyte stem cells","volume":"98","author":"Pellegrini","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jtos.2021.09.001_bib129","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1038\/cdd.2010.159","article-title":"\u0394Np63 is an ectodermal gatekeeper of epidermal morphogenesis","volume":"18","author":"Shalom-Feuerstein","year":"2011","journal-title":"Cell Death Differ"},{"key":"10.1016\/j.jtos.2021.09.001_bib130","doi-asserted-by":"crossref","first-page":"20448","DOI":"10.1074\/jbc.M115.662940","article-title":"Transcription Factor PAX6 (Paired Box 6) controls limbal stem cell lineage in development and disease","volume":"290","author":"Li","year":"2015","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtos.2021.09.001_bib131","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/stem.2959","article-title":"SOX2 regulates P63 and stem\/progenitor cell state in the corneal epithelium","volume":"37","author":"Bhattacharya","year":"2019","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib132","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/dvdy.24551","article-title":"Lacrimal gland development: from signaling interactions to regenerative medicine","volume":"246","author":"Garg","year":"2017","journal-title":"Dev Dynam"},{"key":"10.1016\/j.jtos.2021.09.001_bib133","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/j.oftal.2018.06.005","article-title":"Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome","volume":"93","author":"Garza-Leon","year":"2018","journal-title":"Arch Soc Esp Oftalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib134","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.ophtha.2011.06.044","article-title":"Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations","volume":"119","author":"Di Iorio","year":"2012","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib135","doi-asserted-by":"crossref","first-page":"9523","DOI":"10.1073\/pnas.0503437102","article-title":"Isoforms of DeltaNp63 and the migration of ocular limbal cells in human corneal regeneration","volume":"102","author":"Di Iorio","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jtos.2021.09.001_bib136","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.3390\/ijms19071982","article-title":"An insight into the difficulties in the discovery of specific biomarkers of limbal stem cells","volume":"19","author":"Guo","year":"2018","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib137","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1210\/me.2005-0270","article-title":"A glycoprotein hormone expressed in corticotrophs exhibits unique binding properties on thyroid-stimulating hormone receptor","volume":"20","author":"Okada","year":"2006","journal-title":"Mol Endocrinol"},{"key":"10.1016\/j.jtos.2021.09.001_bib138","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.jtos.2021.04.010","article-title":"Molecular identity of human limbal heterogeneity involved in corneal homeostasis and privilege","volume":"21","author":"Dou","year":"2021","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib139","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1167\/iovs.03-1118","article-title":"Corneal development, limbal stem cell function, and corneal epithelial cell migration in the Pax6 +\/\u2212 mouse","volume":"45","author":"Collinson","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib140","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1006\/dbio.2000.9638","article-title":"The lens organizes the anterior segment: specification of neural crest cell differentiation in the avian eye","volume":"220","author":"Beebe","year":"2000","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib141","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1002\/dvdy.23925","article-title":"The corneal epithelium and lens develop independently from a common pool of precursors","volume":"242","author":"Collomb","year":"2013","journal-title":"Dev Dynam"},{"key":"10.1016\/j.jtos.2021.09.001_bib142","doi-asserted-by":"crossref","first-page":"dev167171","DOI":"10.1242\/dev.167171","article-title":"Lens-regulated retinoic acid signalling controls expansion of the developing eye","volume":"145","author":"Smith","year":"2018","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib143","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1126\/science.289.5479.631","article-title":"Central role for the lens in cave fish eye degeneration","volume":"289","author":"Yamamoto","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.jtos.2021.09.001_bib144","doi-asserted-by":"crossref","first-page":"9688","DOI":"10.1073\/pnas.161144098","article-title":"Primary defects in the lens underlie complex anterior segment abnormalities of the <em>Pax6<\/em> heterozygous eye","volume":"98","author":"Collinson","year":"2001","journal-title":"Proc Natl Acad Sci Unit States Am"},{"key":"10.1016\/j.jtos.2021.09.001_bib145","doi-asserted-by":"crossref","first-page":"3332","DOI":"10.1093\/hmg\/ddq237","article-title":"Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma","volume":"19","author":"Kroeber","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib146","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1242\/dev.098822","article-title":"Stage-dependent requirement of neuroretinal Pax6 for lens and retina development","volume":"141","author":"Klimova","year":"2014","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib147","first-page":"291","article-title":"Keratopathy, cataract, and dry eye in a survey of aniridia subjects","volume":"9","author":"Shiple","year":"2015","journal-title":"Clin Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib148","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/S0886-3350(02)01602-4","article-title":"Thinning of the anterior capsule associated with congenital aniridia","volume":"29","author":"Schneider","year":"2003","journal-title":"J Cataract Refract Surg"},{"key":"10.1016\/j.jtos.2021.09.001_bib149","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1016\/j.biocel.2010.09.012","article-title":"The lens epithelium in ocular health and disease","volume":"42","author":"Martinez","year":"2010","journal-title":"Int J Biochem Cell Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib150","doi-asserted-by":"crossref","first-page":"e165","DOI":"10.1111\/aos.12225","article-title":"Cataract development in Norwegian patients with congenital aniridia","volume":"92","author":"Ed\u00e9n","year":"2014","journal-title":"Acta Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib151","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1007\/s003470050361","article-title":"[Molecular genetic study of the PAX6 gene in aniridia patients]","volume":"95","author":"Wolf","year":"1998","journal-title":"Ophthalmologe"},{"key":"10.1016\/j.jtos.2021.09.001_bib152","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1111\/j.1755-3768.2008.01402.x","article-title":"Aniridia: sight-threatening and hard to cure","volume":"86","author":"Tornqvist","year":"2008","journal-title":"Acta Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib153","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1167\/iovs.09-4023","article-title":"Cytoskeletal and cell adhesion defects in wounded and Pax6+\/- corneal epithelia","volume":"51","author":"Ou","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib154","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1002\/path.2371","article-title":"Chronic wound state exacerbated by oxidative stress in Pax6+\/- aniridia-related keratopathy","volume":"215","author":"Ou","year":"2008","journal-title":"J Pathol"},{"key":"10.1016\/j.jtos.2021.09.001_bib155","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.ydbio.2009.06.023","article-title":"Pax6 dosage requirements in iris and ciliary body differentiation","volume":"333","author":"Davis","year":"2009","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib156","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.bbadis.2016.10.018","article-title":"A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye","volume":"1863","author":"Wang","year":"2017","journal-title":"Biochim Biophys Acta (BBA) - Mol Basis Dis"},{"key":"10.1016\/j.jtos.2021.09.001_bib157","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/jbiol29","article-title":"Compound developmental eye disorders following inactivation of TGF\u03b2 signaling in neural-crest stem cells","volume":"4","author":"Ittner","year":"2005","journal-title":"J Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib158","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/0039-6257(84)90184-X","volume":"28","author":"Nelson","year":"1984","journal-title":"Aniridia. A review. Survey of Ophthalmology."},{"key":"10.1016\/j.jtos.2021.09.001_bib159","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/S0181-5512(07)89576-3","article-title":"Le glaucome dans l\u2019aniridie","volume":"30","author":"Br\u00e9mond-Gignac","year":"2007","journal-title":"J Fr Ophtalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib160","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1016\/j.ajo.2003.09.038","article-title":"Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia","volume":"137","author":"Brandt","year":"2004","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib161","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1097\/01.ICL.0000152487.16012.40","article-title":"Central corneal thickness in patients with congenital aniridia","volume":"31","author":"Whitson","year":"2005","journal-title":"Eye Contact Lens"},{"key":"10.1016\/j.jtos.2021.09.001_bib162","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1111\/j.1600-0420.2005.00559.x","article-title":"Central corneal thickness and corneal diameter in premature infants","volume":"83","author":"Kirwan","year":"2005","journal-title":"Acta Ophthalmol Scand"},{"key":"10.1016\/j.jtos.2021.09.001_bib163","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0925-4773(02)00260-5","article-title":"Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities","volume":"118","author":"Baulmann","year":"2002","journal-title":"Mech Dev"},{"key":"10.1016\/j.jtos.2021.09.001_bib164","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/S0012-1606(02)00095-7","article-title":"The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo","volume":"255","author":"Collinson","year":"2003","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib165","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1096\/fj.04-2770fje","article-title":"PAX6 expression identifies progenitor cells for corneal keratocytes","volume":"19","author":"Funderburgh","year":"2005","journal-title":"Faseb J"},{"key":"10.1016\/j.jtos.2021.09.001_bib166","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/bies.20009","article-title":"Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases","volume":"26","author":"Cvekl","year":"2004","journal-title":"Bioessays : news and reviews in molecular, cellular and developmental biology"},{"key":"10.1016\/j.jtos.2021.09.001_bib167","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1101\/gad.887101","article-title":"Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development","volume":"15","author":"Kamachi","year":"2001","journal-title":"Genes Dev"},{"key":"10.1016\/j.jtos.2021.09.001_bib168","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1471-2156-6-43","article-title":"A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11","volume":"6","author":"Cooper","year":"2005","journal-title":"BMC Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib169","doi-asserted-by":"crossref","first-page":"11539","DOI":"10.1074\/jbc.M110531200","article-title":"Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays","volume":"277","author":"Chauhan","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtos.2021.09.001_bib170","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng0493-299","article-title":"A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells","volume":"3","author":"Matsuo","year":"1993","journal-title":"Nat Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib171","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1136\/bjophthalmol-2012-302568","article-title":"Towards a dynamic customised therapy for ocular surface dysfunctions","volume":"97","author":"Aragona","year":"2013","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib172","first-page":"95","article-title":"em>Small eyes<\/em> (<em>Sey<\/em>): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse","volume":"97","author":"Hogan","year":"1986","journal-title":"J Embryol Exp Morphol"},{"key":"10.1016\/j.jtos.2021.09.001_bib173","doi-asserted-by":"crossref","first-page":"2563","DOI":"10.1242\/dev.127.12.2563","article-title":"FGF10 is an inducer and Pax6 a competence factor for lacrimal gland development","volume":"127","author":"Makarenkova","year":"2000","journal-title":"Development"},{"key":"10.1016\/j.jtos.2021.09.001_bib174","doi-asserted-by":"crossref","DOI":"10.1016\/j.stem.2021.02.024","article-title":"Exploring the human lacrimal gland using organoids and single-cell sequencing","author":"Bannier-H\u00e9laou\u00ebt","year":"2021","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib175","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41514-016-0001-8","article-title":"Identification of transcription factors that promote the differentiation of human pluripotent stem cells into lacrimal gland epithelium-like cells","volume":"3","author":"Hirayama","year":"2017","journal-title":"npj Aging and Mechanisms of Disease"},{"key":"10.1016\/j.jtos.2021.09.001_bib176","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1016\/j.jtos.2017.03.002","article-title":"Meibomian gland morphogenesis requires developmental eyelid closure and lid fusion","volume":"15","author":"Wang","year":"2017","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib177","article-title":"The expression of Pax6 variants is subject to posttranscriptional regulation in the developing mouse eyelid","volume":"8","author":"Shi","year":"2013","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib178","first-page":"168","article-title":"A unique lineage gives rise to the meibomian gland","volume":"22","author":"Call","year":"2016","journal-title":"Mol Vis"},{"key":"10.1016\/j.jtos.2021.09.001_bib179","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.1167\/iovs.18-24027","article-title":"The level of inflammatory tear cytokines is elevated in congenital aniridia and associated with meibomian gland dysfunction","volume":"59","author":"Landsend","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib180","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1016\/j.ophtha.2005.04.014","article-title":"Association of aniridia and dry eyes","volume":"112","author":"Jastaneiah","year":"2005","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib181","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1136\/bjophthalmol-2017-310927","article-title":"Meibomian gland dysfunction and keratopathy are associated with dry eye disease in aniridia","volume":"103","author":"Landsend","year":"2019","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib182","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.jprot.2013.09.003","article-title":"Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia","volume":"94","author":"Ihnatko","year":"2013","journal-title":"Journal of Proteomics"},{"key":"10.1016\/j.jtos.2021.09.001_bib183","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.1167\/iovs.18-24027","article-title":"The level of inflammatory tear cytokines is elevated in congenital aniridia and associated with meibomian gland dysfunction","volume":"59","author":"Landsend","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib184","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1038\/eye.1996.73","article-title":"Absent meibomian glands: a marker for EEC syndrome","volume":"10","author":"Bonnar","year":"1996","journal-title":"Eye"},{"key":"10.1016\/j.jtos.2021.09.001_bib185","first-page":"721","article-title":"The limbal palisades of Vogt","volume":"89","author":"Townsend","year":"1991","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1016\/j.jtos.2021.09.001_bib186","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1634\/stemcells.2006-0580","article-title":"Characterization of the limbal epithelial stem cell niche: novel imaging techniques permit in vivo observation and targeted biopsy of limbal epithelial stem cells","volume":"25","author":"Shortt","year":"2007","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib187","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/sj.cr.7310137","article-title":"Niche regulation of corneal epithelial stem cells at the limbus","volume":"17","author":"Li","year":"2007","journal-title":"Cell Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib188","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1136\/bjo.2006.102640","article-title":"Morphological characteristics of the limbal epithelial crypt","volume":"91","author":"Shanmuganathan","year":"2007","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib189","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/0092-8674(89)90958-6","article-title":"Existence of slow-cycling limbal epithelial basal cells that can be preferentially stimulated to proliferate: implications on epithelial stem cells","volume":"57","author":"Cotsarelis","year":"1989","journal-title":"Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib190","doi-asserted-by":"crossref","first-page":"E10","DOI":"10.1038\/nature08805","article-title":"Location of corneal epithelial stem cells","volume":"463","author":"Sun","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.jtos.2021.09.001_bib191","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1046\/j.1524-475x.2001.00483.x","article-title":"Corneal stem cells in review","volume":"9","author":"Daniels","year":"2001","journal-title":"Wound Repair Regen"},{"key":"10.1016\/j.jtos.2021.09.001_bib192","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1016\/j.stem.2021.02.022","article-title":"Two-photon live imaging of single corneal stem cells reveals compartmentalized organization of the limbal niche","volume":"28","author":"Farrelly","year":"2021","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib193","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/BF00357072","article-title":"Regulation and clinical implications of corneal epithelial stem cells","volume":"23","author":"Tseng","year":"1996","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.jtos.2021.09.001_bib194","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/S0039-6257(00)00109-0","article-title":"Limbal stem cells of the corneal epithelium","volume":"44","author":"Dua","year":"2000","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib195","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1016\/S0161-6420(95)30842-1","article-title":"Cytologic evidence of corneal diseases with limbal stem cell deficiency","volume":"102","author":"Puangsricharern","year":"1995","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib196","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/path.2256","article-title":"Down-regulation of Pax6 is associated with abnormal differentiation of corneal epithelial cells in severe ocular surface diseases","volume":"214","author":"Li","year":"2008","journal-title":"J Pathol"},{"key":"10.1016\/j.jtos.2021.09.001_bib197","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.jtos.2016.04.002","article-title":"Anatomical features and cell-cell interactions in the human limbal epithelial stem cell niche","volume":"14","author":"Dziasko","year":"2016","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib198","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1016\/j.ophtha.2008.12.017","article-title":"The role of limbal stem cells in corneal epithelial maintenance: testing the dogma","volume":"116","author":"Dua","year":"2009","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib199","first-page":"96","article-title":"Corneal epithelial wound healing in the absence of limbal epithelium","volume":"32","author":"Huang","year":"1991","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib200","doi-asserted-by":"crossref","first-page":"1242281","DOI":"10.1126\/science.1242281","article-title":"Stem cell plasticity. Plasticity of epithelial stem cells in tissue regeneration","volume":"344","author":"Blanpain","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.jtos.2021.09.001_bib201","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1056\/NEJMoa0905955","article-title":"Limbal stem-cell therapy and long-term corneal regeneration","volume":"363","author":"Rama","year":"2010","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jtos.2021.09.001_bib202","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/stem.276","article-title":"Successful clinical implementation of corneal epithelial stem cell therapy for treatment of unilateral limbal stem cell deficiency","volume":"28","author":"Kolli","year":"2010","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib203","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/nature13465","article-title":"WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis","volume":"511","author":"Ouyang","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.jtos.2021.09.001_bib204","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1038\/eye.2013.50","article-title":"In vivo confocal microscopy of congenital aniridia-associated keratopathy","volume":"27","author":"Le","year":"2013","journal-title":"Eye"},{"key":"10.1016\/j.jtos.2021.09.001_bib205","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.jtos.2021.06.002","article-title":"Dysfunction of the limbal epithelial stem cell niche in aniridia-associated keratopathy","volume":"21","author":"Schl\u00f6tzer-Schrehardt","year":"2021","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib206","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/j.jtos.2017.07.001","article-title":"Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy","volume":"15","author":"Voskresenskaya","year":"2017","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib207","doi-asserted-by":"crossref","first-page":"5333","DOI":"10.1167\/iovs.13-11780","article-title":"In vivo morphology of the limbal palisades of vogt correlates with progressive stem cell deficiency in aniridia-related keratopathy","volume":"54","author":"Lagali","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib208","article-title":"Pax6 downregulation mediates abnormal lineage commitment of the ocular surface epithelium in aqueous-deficient dry eye disease","volume":"8","author":"Chen","year":"2013","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib209","doi-asserted-by":"crossref","first-page":"7079","DOI":"10.1167\/iovs.14-14828","article-title":"Establishing PAX6 as a biomarker to detect early loss of ocular phenotype in human patients with Sjogren's syndrome","volume":"55","author":"McNamara","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib210","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.preteyeres.2015.07.002","article-title":"Progress in corneal wound healing","volume":"49","author":"Ljubimov","year":"2015","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib211","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1128\/MCB.00846-06","article-title":"Conditional deletion of the mouse Klf4 gene results in corneal epithelial fragility, stromal edema, and loss of conjunctival goblet cells","volume":"27","author":"Swamynathan","year":"2007","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib212","doi-asserted-by":"crossref","first-page":"2785","DOI":"10.1167\/iovs.17-21826","article-title":"KLF4 plays an essential role in corneal epithelial homeostasis by promoting epithelial cell fate and suppressing epithelial-mesenchymal transition","volume":"58","author":"Tiwari","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib213","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1038\/ejhg.2012.80","article-title":"PITX2 and FOXC1 spectrum of mutations in ocular syndromes","volume":"20","author":"Reis","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib214","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1586\/17469899.2016.1152182","article-title":"Congenital aniridia: etiology, manifestations and management","volume":"11","author":"Samant","year":"2016","journal-title":"Expet Rev Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib215","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/1741-7007-4-27","article-title":"The roles of calcium signaling and ERK1\/2 phosphorylation in a Pax6+\/- mouse model of epithelial wound-healing delay","volume":"4","author":"Leiper","year":"2006","journal-title":"BMC Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib216","doi-asserted-by":"crossref","first-page":"1556","DOI":"10.1172\/JCI65220","article-title":"Desmoglein-1\/Erbin interaction suppresses ERK activation to support epidermal differentiation","volume":"123","author":"Harmon","year":"2013","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jtos.2021.09.001_bib217","doi-asserted-by":"crossref","first-page":"2032","DOI":"10.1002\/stem.1176","article-title":"Corneal goblet cells and their niche: implications for corneal stem cell deficiency","volume":"30","author":"Pajoohesh-Ganji","year":"2012","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib218","first-page":"601731","article-title":"An update on ocular surface epithelial stem cells: cornea and conjunctiva","volume":"2015","author":"Ramos","year":"2015","journal-title":"Stem Cell Int"},{"key":"10.1016\/j.jtos.2021.09.001_bib219","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1097\/ICO.0000000000001670","article-title":"Optimized protocol for regeneration of the conjunctival epithelium using the cell suspension technique","volume":"38","author":"Bertolin","year":"2019","journal-title":"Cornea"},{"key":"10.1016\/j.jtos.2021.09.001_bib220","doi-asserted-by":"crossref","DOI":"10.1002\/stem.2858","article-title":"Modeling of aniridia-related keratopathy by CRISPR\/Cas9 genome editing of human limbal epithelial cells and rescue by recombinant PAX6 protein","author":"Roux","year":"2018","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib221","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0071117","article-title":"Increased corneal epithelial turnover contributes to abnormal homeostasis in the Pax6(+\/-) mouse model of aniridia","volume":"8","author":"Douvaras","year":"2013","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib222","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1002\/stem.2343","article-title":"Correction of mutant p63 in EEC syndrome using siRNA mediated allele-specific silencing restores defective stem cell function","volume":"34","author":"Barbaro","year":"2016","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib223","first-page":"990","article-title":"Contact-mediated control of radial migration of corneal epithelial cells","volume":"22","author":"Walczysko","year":"2016","journal-title":"Mol Vis"},{"key":"10.1016\/j.jtos.2021.09.001_bib224","first-page":"264","article-title":"Corneal angiogenic privilege: angiogenic and antiangiogenic factors in corneal avascularity, vasculogenesis, and wound healing (an American Ophthalmological Society thesis)","volume":"104","author":"Azar","year":"2006","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1016\/j.jtos.2021.09.001_bib225","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1038\/nature05249","article-title":"Corneal avascularity is due to soluble VEGF receptor-1","volume":"443","author":"Ambati","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.jtos.2021.09.001_bib226","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1002\/stem.1068","article-title":"Pluripotent stem cell model reveals essential roles for miR-450b-5p and miR-184 in embryonic corneal lineage specification","volume":"30","author":"Shalom-Feuerstein","year":"2012","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib227","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.jtos.2021.09.001_bib228","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1096\/fj.201600746r","article-title":"miR-184 exhibits angiostatic properties via regulation of Akt and VEGF signaling pathways","volume":"31","author":"Park","year":"2017","journal-title":"Faseb J"},{"key":"10.1016\/j.jtos.2021.09.001_bib229","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1167\/iovs.14-15913","article-title":"MicroRNA-204-5p-Mediated regulation of SIRT1 contributes to the delay of epithelial cell cycle traversal in diabetic corneas","volume":"56","author":"Gao","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib230","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.omtn.2017.12.019","article-title":"Transcriptome profiling of neovascularized corneas reveals miR-204 as a multi-target biotherapy deliverable by rAAVs","volume":"10","author":"Lu","year":"2018","journal-title":"Mol Ther Nucleic Acids"},{"key":"10.1016\/j.jtos.2021.09.001_bib231","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s40246-020-00258-4","article-title":"TRPM3_miR-204: a complex locus for eye development and disease","volume":"14","author":"Shiels","year":"2020","journal-title":"Hum Genom"},{"key":"10.1016\/j.jtos.2021.09.001_bib232","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003357","article-title":"Pax6 regulates gene expression in the vertebrate lens through miR-204","volume":"9","author":"Shaham","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib233","article-title":"Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain","volume":"8","author":"Xie","year":"2013","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib234","first-page":"270","article-title":"Gene regulation by PAX6: structural-functional correlations of missense mutants and transcriptional control of Trpm3\/miR-204","volume":"20","author":"Xie","year":"2014","journal-title":"Mol Vis"},{"key":"10.1016\/j.jtos.2021.09.001_bib235","doi-asserted-by":"crossref","first-page":"15491","DOI":"10.1073\/pnas.0914785107","article-title":"miR-204 is required for lens and retinal development via <em>Meis2<\/em> targeting","volume":"107","author":"Conte","year":"2010","journal-title":"Proc Natl Acad Sci Unit States Am"},{"key":"10.1016\/j.jtos.2021.09.001_bib236","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.jtos.2019.04.002","article-title":"MicroRNAs in the cornea: role and implications for treatment of corneal neovascularization","volume":"17","author":"Mukwaya","year":"2019","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib237","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1007\/s10792-017-0605-4","article-title":"Topical bevacizumab treatment in aniridia","volume":"38","author":"Lapid-Gortzak","year":"2018","journal-title":"Int Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib238","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.stem.2008.05.009","article-title":"Hair follicle stem cells are specified and function in early skin morphogenesis","volume":"3","author":"Nowak","year":"2008","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib239","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.semcdb.2013.12.005","article-title":"Stem cell dynamics in the hair follicle niche","volume":"25\u201326","author":"Rompolas","year":"2014","journal-title":"Semin Cell Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib240","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.cell.2011.01.014","article-title":"The basement membrane of hair follicle stem cells is a muscle cell niche","volume":"144","author":"Fujiwara","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib241","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1002\/stem.1100","article-title":"Concise review: stem cells in the corneal stroma","volume":"30","author":"Pinnamaneni","year":"2012","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib242","doi-asserted-by":"crossref","first-page":"3714","DOI":"10.1073\/pnas.0500344102","article-title":"Transdifferentiation of corneal epithelium into epidermis occurs by means of a multistep process triggered by dermal developmental signals","volume":"102","author":"Pearton","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jtos.2021.09.001_bib243","doi-asserted-by":"crossref","first-page":"1874","DOI":"10.1002\/stem.743","article-title":"Limbal epithelial stem\/progenitor cells attract stromal niche cells by SDF-1\/CXCR4 signaling to prevent differentiation","volume":"29","author":"Xie","year":"2011","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib244","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1126\/science.aay4509","article-title":"Stem cell\u2013driven lymphatic remodeling coordinates tissue regeneration","volume":"366","author":"Gur-Cohen","year":"2019","journal-title":"Science"},{"key":"10.1016\/j.jtos.2021.09.001_bib245","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1111\/j.1432-0436.1989.tb00607.x","article-title":"Basement membrane heterogeneity and variation in corneal epithelial differentiation","volume":"42","author":"Kolega","year":"1989","journal-title":"Differentiation"},{"key":"10.1016\/j.jtos.2021.09.001_bib246","first-page":"461","article-title":"Human corneal basement membrane heterogeneity: topographical differences in the expression of type IV collagen and laminin isoforms","volume":"72","author":"Ljubimov","year":"1995","journal-title":"Lab Invest"},{"key":"10.1016\/j.jtos.2021.09.001_bib247","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/stem.2191","article-title":"Cell adhesion molecules and stem cell-niche-interactions in the limbal stem cell niche","volume":"34","author":"Polisetti","year":"2016","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib248","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.scr.2012.11.001","article-title":"Aquaporin 1-positive stromal niche-like cells directly interact with N-cadherin-positive clusters in the basal limbal epithelium","volume":"10","author":"Higa","year":"2013","journal-title":"Stem Cell Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib249","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0094283","article-title":"Localisation of epithelial cells capable of holoclone formation in vitro and direct interaction with stromal cells in the native human limbal crypt","volume":"9","author":"Dziasko","year":"2014","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib250","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/stem.2191","article-title":"Cell adhesion molecules and stem cell-niche-interactions in the limbal stem cell niche","volume":"34","author":"Polisetti","year":"2016","journal-title":"Stem Cell"},{"key":"10.1016\/j.jtos.2021.09.001_bib251","doi-asserted-by":"crossref","first-page":"4640","DOI":"10.1167\/iovs.09-3503","article-title":"N-cadherin in the maintenance of human corneal limbal epithelial progenitor cells in vitro","volume":"50","author":"Higa","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib252","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.exer.2015.06.026","article-title":"Limbal melanocytes support limbal epithelial stem cells in 2D and 3D microenvironments","volume":"138","author":"Dziasko","year":"2015","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib253","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.jtos.2015.12.006","article-title":"Stem cells in the limbal stroma","volume":"14","author":"Funderburgh","year":"2016","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib254","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004360","article-title":"PAX6 regulates melanogenesis in the retinal pigmented epithelium through feed-forward regulatory interactions with MITF","volume":"10","author":"Raviv","year":"2014","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib255","doi-asserted-by":"crossref","first-page":"6953","DOI":"10.1167\/iovs.14-14999","article-title":"Human limbal mesenchymal cells support the growth of human corneal epithelial stem\/progenitor cells","volume":"55","author":"Nakatsu","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib256","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1038\/s41467-019-09331-6","article-title":"Assessment of corneal substrate biomechanics and its effect on epithelial stem cell maintenance and differentiation","volume":"10","author":"Gouveia","year":"2019","journal-title":"Nat Commun"},{"key":"10.1016\/j.jtos.2021.09.001_bib257","article-title":"Effects of flow-induced shear stress on limbal epithelial stem cell growth and enrichment","volume":"9","author":"Kang","year":"2014","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib258","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0198822","article-title":"Aniridia-related keratopathy: structural changes in na\u00efve and transplanted corneal buttons","volume":"13","author":"Vicente","year":"2018","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib259","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0028895","article-title":"Effects of aberrant Pax6 gene dosage on mouse corneal pathophysiology and corneal epithelial homeostasis","volume":"6","author":"Mort","year":"2011","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib260","doi-asserted-by":"crossref","first-page":"1911","DOI":"10.1167\/iovs.05-1028","article-title":"Increased apoptosis and abnormal wound-healing responses in the heterozygous Pax6 +\/\u2212 mouse cornea","volume":"47","author":"Ramaesh","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib261","doi-asserted-by":"crossref","first-page":"5130","DOI":"10.1167\/iovs.03-0584","article-title":"Stromal niche controls the plasticity of limbal and corneal epithelial differentiation in a rabbit model of recombined tissue","volume":"44","author":"Espana","year":"2003","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib262","doi-asserted-by":"crossref","first-page":"3383","DOI":"10.1242\/dev.125393","article-title":"Wnt\/\u03b2-catenin signaling modulates corneal epithelium stratification via inhibition of Bmp4 during mouse development","volume":"142","author":"Zhang","year":"2015","journal-title":"Development (Cambridge, England)"},{"key":"10.1016\/j.jtos.2021.09.001_bib263","doi-asserted-by":"crossref","first-page":"5531","DOI":"10.1167\/iovs.18-25175","article-title":"Altered signaling pathways in aniridia-related KeratopathySignaling pathways in aniridia-related keratopathy","volume":"59","author":"Vicente","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib264","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1159\/000444930","article-title":"Histopathology findings of corneal buttons in congenital aniridia patients","volume":"56","author":"Bausili","year":"2016","journal-title":"Ophthalmic Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib265","series-title":"Aniridia: recent developments in scientific and clinical research","first-page":"63","article-title":"Lamellar and penetrating keratoplasty in congenital aniridia","author":"Planella","year":"2015"},{"key":"10.1016\/j.jtos.2021.09.001_bib266","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/j.neuron.2015.01.019","article-title":"Homeoprotein signaling in the developing and adult nervous system","volume":"85","author":"Prochiantz","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/j.jtos.2021.09.001_bib267","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/1749-8104-2-2","article-title":"Direct non-cell autonomous Pax6 activity regulates eye development in the zebrafish","volume":"2","author":"Lesaffre","year":"2007","journal-title":"Neural Dev"},{"key":"10.1016\/j.jtos.2021.09.001_bib268","first-page":"236","article-title":"Label-retaining cells are preferentially located in fornical epithelium: implications on conjunctival epithelial homeostasis","volume":"36","author":"Wei","year":"1995","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib269","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.exer.2018.10.002","article-title":"Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model","volume":"179","author":"Latta","year":"2019","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib270","doi-asserted-by":"crossref","first-page":"1803","DOI":"10.1016\/j.ophtha.2012.02.043","article-title":"Pathologic epithelial and anterior corneal nerve morphology in early-stage congenital aniridic keratopathy","volume":"119","author":"Ed\u00e9n","year":"2012","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib271","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1097\/00003226-199509000-00001","article-title":"Effect of stromal inflammation on the outcome of limbal transplantation for corneal surface reconstruction","volume":"14","author":"Tsai","year":"1995","journal-title":"Cornea"},{"key":"10.1016\/j.jtos.2021.09.001_bib272","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0171712","article-title":"Corneal stromal stem cells reduce corneal scarring by mediating neutrophil infiltration after wounding","volume":"12","author":"Hertsenberg","year":"2017","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib273","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1002\/sctm.18-0297","article-title":"Mesenchymal stem cells reduce corneal fibrosis and inflammation via extracellular vesicle-mediated delivery of miRNA","volume":"8","author":"Shojaati","year":"2019","journal-title":"Stem cells translational medicine"},{"key":"10.1016\/j.jtos.2021.09.001_bib274","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.trsl.2018.11.003","article-title":"A proof-of-concept clinical trial using mesenchymal stem cells for the treatment of corneal epithelial stem cell deficiency","volume":"206","author":"Calonge","year":"2019","journal-title":"Transl Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib275","doi-asserted-by":"crossref","first-page":"838","DOI":"10.2353\/ajpath.2007.070008","article-title":"gamma delta T cells are necessary for platelet and neutrophil accumulation in limbal vessels and efficient epithelial repair after corneal abrasion","volume":"171","author":"Li","year":"2007","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jtos.2021.09.001_bib276","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajo.2006.06.057","article-title":"Epithelial dendritic cell distribution in normal and inflamed human cornea: in vivo confocal microscopy study","volume":"142","author":"Mastropasqua","year":"2006","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib277","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.3109\/02713683.2012.696172","article-title":"Distribution of antigen presenting cells in the human cornea: correlation of in vivo confocal microscopy and immunohistochemistry in different pathologic entities","volume":"37","author":"Mayer","year":"2012","journal-title":"Curr Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib278","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s11357-011-9359-5","article-title":"The impact of age on the physical and cellular properties of the human limbal stem cell niche","volume":"35","author":"Notara","year":"2013","journal-title":"Age (Dordr)."},{"key":"10.1016\/j.jtos.2021.09.001_bib279","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1002\/jcp.25623","article-title":"Understanding the pathogenesis of neurotrophic keratitis: the role of corneal nerves","volume":"232","author":"Mastropasqua","year":"2017","journal-title":"J Cell Physiol"},{"key":"10.1016\/j.jtos.2021.09.001_bib280","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/S0014-4835(03)00050-2","article-title":"Corneal nerves: structure, contents and function","volume":"76","author":"M\u00fcller","year":"2003","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib281","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.survophthal.2013.09.002","article-title":"Corneal nerves in health and disease","volume":"59","author":"Shaheen","year":"2014","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib282","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1007\/s10384-007-0480-z","article-title":"Persistent epithelial defects due to neurotrophic keratopathy treated with a substance p-derived peptide and insulin-like growth factor 1","volume":"51","author":"Nishida","year":"2007","journal-title":"Jpn J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib283","doi-asserted-by":"crossref","first-page":"36414","DOI":"10.1038\/srep36414","article-title":"Intraepithelial dendritic cells and sensory nerves are structurally associated and functional interdependent in the cornea","volume":"6","author":"Gao","year":"2016","journal-title":"Sci Rep"},{"key":"10.1016\/j.jtos.2021.09.001_bib284","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1084\/jem.165.4.1218","article-title":"The macrophage response to central and peripheral nerve injury. A possible role for macrophages in regeneration","volume":"165","author":"Perry","year":"1987","journal-title":"J Exp Med"},{"key":"10.1016\/j.jtos.2021.09.001_bib285","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1167\/iovs.13-12995","article-title":"A novel association between resident tissue macrophages and nerves in the peripheral stroma of the murine cornea","volume":"55","author":"Seyed-Razavi","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib286","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.jtos.2015.10.003","article-title":"Congenital aniridia and the ocular surface","volume":"14","author":"Ihnatko","year":"2016","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib287","first-page":"75","article-title":"The structure of corpuscular nerve endings in the limbal conjunctiva of the human eye","volume":"177","author":"Lawrenson","year":"1991","journal-title":"J Anat"},{"key":"10.1016\/j.jtos.2021.09.001_bib288","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1167\/iovs.11-8438","article-title":"Dependence of corneal stem\/progenitor cells on ocular surface innervation","volume":"53","author":"Ueno","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib289","doi-asserted-by":"crossref","first-page":"102012","DOI":"10.1016\/j.scr.2020.102012","article-title":"Human corneal limbal organoids maintaining limbal stem cell niche function","volume":"49","author":"Higa","year":"2020","journal-title":"Stem Cell Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib290","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1167\/iovs.11-8379","article-title":"Nerves and neovessels inhibit each other in the cornea","volume":"54","author":"Ferrari","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib291","doi-asserted-by":"crossref","first-page":"6229","DOI":"10.1096\/fj.201903236R","article-title":"Sensory neurons directly promote angiogenesis in response to inflammation via substance P signaling","volume":"34","author":"Liu","year":"2020","journal-title":"Faseb J"},{"key":"10.1016\/j.jtos.2021.09.001_bib292","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/j.ajpath.2010.12.001","article-title":"IL-17 and VEGF are necessary for efficient corneal nerve regeneration","volume":"178","author":"Li","year":"2011","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jtos.2021.09.001_bib293","doi-asserted-by":"crossref","first-page":"3870","DOI":"10.1167\/iovs.07-1418","article-title":"Vascular endothelial growth factor mediates corneal nerve repair","volume":"49","author":"Yu","year":"2008","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib294","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1016\/j.jtos.2019.01.009","article-title":"Efficacy of autologous serum tears for treatment of neuropathic corneal pain","volume":"17","author":"Aggarwal","year":"2019","journal-title":"Ocul Surf"},{"key":"10.1016\/j.jtos.2021.09.001_bib295","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/s10792-019-01211-8","article-title":"Effects of topical autologous serum on the ocular surface in patients with toxic corneal epitheliopathy induced by anti-glaucoma drugs","volume":"40","author":"Yoon","year":"2020","journal-title":"Int Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib296","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ophtha.2007.03.087","article-title":"Autologous serum eyedrops in the treatment of aniridic keratopathy","volume":"115","author":"L\u00f3pez-Garc\u00eda","year":"2008","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib297","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.2147\/OPTH.S185184","article-title":"Update on Cenegermin eye drops in the treatment of neurotrophic keratitis","volume":"13","author":"Sheha","year":"2019","journal-title":"Clin Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib298","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.ophtha.2019.08.020","article-title":"Topical recombinant human nerve growth factor (Cenegermin) for neurotrophic keratopathy: a multicenter randomized vehicle-controlled pivotal trial","volume":"127","author":"Pflugfelder","year":"2020","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jtos.2021.09.001_bib299","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.ajo.2020.04.036","article-title":"In vivo evaluation of corneal nerves and epithelial healing after treatment with recombinant nerve growth factor for neurotrophic keratopathy","volume":"217","author":"Mastropasqua","year":"2020","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib300","article-title":"Analysis of genotype-phenotype correlations in PAX6-associated aniridia","author":"Vasilyeva","year":"2020","journal-title":"J Med Genet"},{"key":"10.1016\/j.jtos.2021.09.001_bib301","first-page":"1231","article-title":"Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation","volume":"17","author":"Law","year":"2011","journal-title":"Mol Vis"},{"key":"10.1016\/j.jtos.2021.09.001_bib302","doi-asserted-by":"crossref","first-page":"3573","DOI":"10.1167\/iovs.08-3032","article-title":"Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia","volume":"50","author":"Ito","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jtos.2021.09.001_bib303","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0153757","article-title":"Genetic analysis of \u2018PAX6-negative\u2019 individuals with aniridia or Gillespie syndrome","volume":"11","author":"Ansari","year":"2016","journal-title":"PloS One"},{"key":"10.1016\/j.jtos.2021.09.001_bib304","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.survophthal.2017.09.004","article-title":"The genetics of congenital aniridia-a guide for the ophthalmologist","volume":"63","author":"Landsend","year":"2018","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.jtos.2021.09.001_bib305","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.omtn.2018.08.018","article-title":"Protecting Pax6 3' UTR from MicroRNA-7 partially restores PAX6 in islets from an aniridia mouse model","volume":"13","author":"Yongblah","year":"2018","journal-title":"Mol Ther Nucleic Acids"},{"key":"10.1016\/j.jtos.2021.09.001_bib306","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s004270050065","article-title":"Distribution of Pax6 protein during eye development suggests discrete roles in proliferative and differentiated visual cells","volume":"206","author":"Macdonald","year":"1997","journal-title":"Dev Gene Evol"},{"key":"10.1016\/j.jtos.2021.09.001_bib307","doi-asserted-by":"crossref","first-page":"17700","DOI":"10.1038\/s41598-018-35884-5","article-title":"In vivo evaluation of PAX6 overexpression and NMDA cytotoxicity to stimulate proliferation in the mouse retina","volume":"8","author":"Ranaei Pirmardan","year":"2018","journal-title":"Sci Rep"},{"key":"10.1016\/j.jtos.2021.09.001_bib308","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1083\/jcb.67.2.400","article-title":"The behavior of fibroblasts from the developing avian cornea. Morphology and movement in situ and in vitro","volume":"67","author":"Bard","year":"1975","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib309","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.biocel.2004.09.002","article-title":"Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy","volume":"37","author":"Ramaesh","year":"2005","journal-title":"Int J Biochem Cell Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib310","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.exer.2017.11.005","article-title":"Human aniridia limbal epithelial cells lack expression of keratins K3 and K12","volume":"167","author":"Latta","year":"2018","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.jtos.2021.09.001_bib311","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1006\/dbio.2000.9694","article-title":"Pax-6 expression and activity are induced in the reepithelializing cornea and control activity of the transcriptional promoter for matrix metalloproteinase gelatinase B","volume":"222","author":"Sivak","year":"2000","journal-title":"Dev Biol"},{"key":"10.1016\/j.jtos.2021.09.001_bib312","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1167\/iovs.08-2812","article-title":"Control of patterns of corneal innervation by Pax6","volume":"50","author":"Leiper","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["The Ocular Surface"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1542012421001002?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1542012421001002?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T17:54:53Z","timestamp":1778522093000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1542012421001002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":312,"alternative-id":["S1542012421001002"],"URL":"https:\/\/doi.org\/10.1016\/j.jtos.2021.09.001","relation":{},"ISSN":["1542-0124"],"issn-type":[{"value":"1542-0124","type":"print"}],"subject":[],"published":{"date-parts":[[2021,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions","name":"articletitle","label":"Article Title"},{"value":"The Ocular Surface","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jtos.2021.09.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}