{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T17:49:11Z","timestamp":1789753751762,"version":"4.0.1"},"reference-count":36,"publisher":"American Society for Clinical Investigation","issue":"2","license":[{"start":{"date-parts":[[2025,1,23]],"date-time":"2025-01-23T00:00:00Z","timestamp":1737590400000},"content-version":"vor","delay-in-days":51,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Joint Program on Rare Diseases","award":["AAK-INSIGHT,EJPRD20-135"],"award-info":[{"award-number":["AAK-INSIGHT,EJPRD20-135"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,23]]},"abstract":"<jats:p>\n                    Aniridia is a rare congenital condition of abnormal eye development arising principally from heterozygous mutation of the\n                    <jats:italic>PAX6<\/jats:italic>\n                    gene. Among the multiple complications arising in the eye, aniridia-associated keratopathy (AAK) is a severe vision-impairing condition of the cornea associated with a progressive limbal stem cell deficiency that lacks suitable treatment options. Current mouse models of aniridia do not accurately represent the onset and progression dynamics of human AAK, hindering therapy development. Here, we performed deep phenotyping of a haploinsufficient\n                    <jats:italic>Pax6<\/jats:italic>\n                    <jats:sup>+\/\u2013<\/jats:sup>\n                    small-eye (Sey) mouse model on the 129S1\/SvImJ background, which exhibits key features of mild presentation at birth and progressive AAK with aging, mimicking human disease. The model exhibits a slowly progressing AAK phenotype and provides insights into the disease, including disturbed basal epithelial cell organization, function, and marker expression; persistent postnatal lymphangiogenesis; disrupted corneal innervation patterns; and persisting yet altered limbal stem cell marker expression with age. The model recapitulates many of the known features of human disease, enabling investigation of underlying disease mechanisms and, importantly, access to a well-defined temporal window for evaluating future therapeutics.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.183965","type":"journal-article","created":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T12:00:17Z","timestamp":1733227217000},"source":"Crossref","is-referenced-by-count":14,"title":["A human-like model of aniridia-associated keratopathy for mechanistic and therapeutic studies"],"prefix":"10.1172","volume":"10","author":[{"given":"Dina","family":"Javidjam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petros","family":"Moustardas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mojdeh","family":"Abbasi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ava","family":"Dashti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yedizza","family":"Rautavaara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Lagali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2024,12,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtos.2021.09.001"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2021.02.011"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0000000000002729"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2023.04.003"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.148406"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1172\/JCI70462"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2019.09.034"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2023.06.016"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2017.05.002"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aaz4894"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1038\/s41434-018-0043-6"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1136\/bjo-2021-320774"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.3109\/03008207.2010.492062"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-4407"},{"issue":"8","key":"B15","first-page":"5333","article-title":"In vivo morphology of the limbal palisades of vogt correlates with progressive stem cell deficiency in aniridia-related keratopathy. 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