{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T18:43:36Z","timestamp":1783536216355,"version":"3.55.0"},"reference-count":70,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:00:00Z","timestamp":1783382400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>This study aimed to measure mRNA and miRNA expression profile in corneal impression cytology (IC) samples from patients with congenital aniridia (CA) and healthy controls, and to elucidate the key genes and signaling pathways involved in aniridia-associated keratopathy (AAK). Corneal IC samples were collected from 14 patients with CA and 14 healthy controls. RNA sequencing was performed to identify differentially expressed genes (DEGs) and miRNAs. Correlations with age and AAK grade were analyzed, selected miRNAs were validated by RT-qPCR, and Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were conducted to characterize biological functions and pathways. A total of 695 DEGs and 19 differentially expressed miRNAs were identified. KRT24 expression was negatively associated with age, whereas LY6D expression positively correlated with AAK grade. Several miRNAs were linked to disease severity, including positive correlations for miR-224-5p, miR-224-3p, and miR-452-5p, and negative correlations for miR-204-3p, miR-181b-5p, and miR-181a-5p. RT-qPCR confirmed significant downregulation of miR-204-5p and miR-138-5p in aniridia samples. Functional enrichment analyses showed that DEGs were mainly involved in cell adhesion, extracellular matrix remodeling, inflammatory and immune responses, and neural-related processes. Target genes of dysregulated miRNAs were enriched in transcriptional regulation, cell proliferation, apoptosis, and migration, with significant involvement of PI3K-Akt, AGE-RAGE, and EGFR signaling pathways. Corneal epithelial cells from patients with CA exhibit coordinated mRNA and miRNA dysregulation associated with extracellular matrix disruption, inflammation, and altered signaling pathways. These findings improve understanding of AAK pathogenesis and identify potential biomarkers and therapeutic targets.<\/jats:p>","DOI":"10.3390\/ijms27136088","type":"journal-article","created":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T17:27:31Z","timestamp":1783531651000},"page":"6088","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Integrated Analysis of mRNA and microRNA Expression in Corneal Impression Cytology Samples from Patients with PAX6-Related Congenital Aniridia"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-2251-6242","authenticated-orcid":false,"given":"Shuailin","family":"Li","sequence":"first","affiliation":[{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, 66424 Homburg, Germany"},{"name":"Department of Experimental Ophthalmology, Saarland University, 66424 Homburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Stachon","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, 66424 Homburg, Germany"},{"name":"Department of Experimental Ophthalmology, Saarland University, 66424 Homburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8526-4712","authenticated-orcid":false,"given":"Fabian Norbert","family":"Fries","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, 66424 Homburg, Germany"},{"name":"Department of Ophthalmology, Saarland University Medical Center, 66424 Homburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1542-6592","authenticated-orcid":false,"given":"M\u00e1ria","family":"Csidey","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annam\u00e1ria","family":"N\u00e1ray","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, 66424 Homburg, Germany"},{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Csorba","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1gnes","family":"\u00c9l\u0151","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9701-8204","authenticated-orcid":false,"given":"Berthold","family":"Seitz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Saarland University Medical Center, 66424 Homburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zolt\u00e1n Zsolt","family":"Nagy","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3631-3506","authenticated-orcid":false,"given":"Erika","family":"Maka","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Corton","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7834-8854","authenticated-orcid":false,"given":"Eszter","family":"J\u00e1vorszky","sequence":"additional","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory, Hungarian Academy of Sciences, 1051 Budapest, Hungary"},{"name":"1st Department of Pediatrics, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0316-6212","authenticated-orcid":false,"given":"K\u00e1lm\u00e1n","family":"Tory","sequence":"additional","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory, Hungarian Academy of Sciences, 1051 Budapest, Hungary"},{"name":"1st Department of Pediatrics, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4703-7567","authenticated-orcid":false,"given":"Nicole","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Saarland University, 66424 Homburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00f3ra","family":"Szentm\u00e1ry","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, 66424 Homburg, Germany"},{"name":"Department of Experimental Ophthalmology, Saarland University, 66424 Homburg, Germany"},{"name":"Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1038\/ejhg.2012.100","article-title":"Aniridia","volume":"20","author":"Hingorani","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"101133","DOI":"10.1016\/j.preteyeres.2022.101133","article-title":"Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches","volume":"95","author":"Daruich","year":"2023","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_3","first-page":"305350","article-title":"Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis","volume":"2014","year":"2014","journal-title":"Int. Sch. Res. Not."},{"key":"ref_4","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","volume":"5","author":"Freund","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"467","DOI":"10.4103\/tjo.TJO-D-23-00140","article-title":"New horizons in aniridia management: Clinical insights and therapeutic advances","volume":"13","author":"Gour","year":"2023","journal-title":"Taiwan J. Ophthalmol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1016\/j.survophthal.2023.04.003","article-title":"Future directions in managing aniridia-associated keratopathy","volume":"68","author":"Utheim","year":"2023","journal-title":"Surv. Ophthalmol."},{"key":"ref_7","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":"ref_8","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ajo.2017.10.017","article-title":"Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy","volume":"185","author":"Lee","year":"2018","journal-title":"Am. J. Ophthalmol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1167\/iovs.66.14.33","article-title":"Central Corneal Epithelial Wounding Accelerates Aniridia-Associated Keratopathy in PAX6-Deficient Mice","volume":"66","author":"Rautavaara","year":"2025","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1167\/iovs.67.1.56","article-title":"PAX6 Deficiency Compromises the Ability of Limbal Epithelial Stem Cells to Properly Differentiate Into Mature Corneal Epithelial Cells","volume":"67","author":"Foroozandeh","year":"2026","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"86","DOI":"10.7150\/ijbs.120764","article-title":"Therapy-induced mRNA, rRNA and tRNA methylation alterations confer tolerance phenotype in tumor cells: Mechanism and implications","volume":"22","author":"Jiang","year":"2026","journal-title":"Int. J. Biol. Sci."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Hsu, S.L., Stachon, T., Fries, F.N., Li, Z., Li, S., Liu, S., Seitz, B., Kundu, S., Amini, M., and Suiwal, S. (2025). Effect of retinoic acid treatment on the retinoic acid signaling pathway in a human siRNA-based aniridia limbal epithelial cell model, in vitro. PLoS ONE, 20.","DOI":"10.1371\/journal.pone.0324946"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"5531","DOI":"10.1167\/iovs.18-25175","article-title":"Altered Signaling Pathways in Aniridia-Related Keratopathy","volume":"59","author":"Vicente","year":"2018","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"233","DOI":"10.12688\/f1000research.94159.1","article-title":"miND (miRNA NGS Discovery pipeline): A small RNA-seq analysis pipeline and report generator for microRNA biomarker discovery studies","volume":"11","author":"Diendorfer","year":"2022","journal-title":"F1000Research"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"102745","DOI":"10.1016\/j.omtn.2025.102745","article-title":"MicroRNA chemical modifications in post-transcriptional gene silencing and human diseases","volume":"36","author":"Alaei","year":"2025","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/nrm3838","article-title":"Regulation of microRNA biogenesis","volume":"15","author":"Ha","year":"2014","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"O\u2019Brien, J., Hayder, H., Zayed, Y., and Peng, C. (2018). Overview of MicroRNA Biogenesis, Mechanisms of Actions, and Circulation. Front. Endocrinol., 9.","DOI":"10.3389\/fendo.2018.00402"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"26436","DOI":"10.1038\/s41598-024-76654-w","article-title":"Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation","volume":"14","author":"Abbasi","year":"2024","journal-title":"Sci. Rep."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Amini, M., Stachon, T., Hsu, S.L., Li, Z., Chai, N., Fries, F.N., Seitz, B., Kundu, S., Suiwal, S., and Szentmary, N. (2025). Effect of MiRNA 204-5P Mimics and Lipopolysaccharide-Induced Inflammation on Transcription Factor Levels, Cell Maintenance, and Retinoic Acid Signaling in Primary Limbal Epithelial Cells. Int. J. Mol. Sci., 26.","DOI":"10.3390\/ijms26083809"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.omtn.2018.08.018","article-title":"Protecting Pax6 3\u2019 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":"ref_21","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1167\/iovs.66.1.20","article-title":"miRNA Expression Profile in Primary Limbal Epithelial Cells of Aniridia Patients","volume":"66","author":"Nastaranpour","year":"2025","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Lent-Schochet, D., Akbar, M., Hou, J.H., and Farooq, A.V. (2024). Diagnostic approach to limbal stem cell deficiency. Front. Ophthalmol., 4.","DOI":"10.3389\/fopht.2024.1524595"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.jtos.2020.04.014","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","volume":"19","author":"Latta","year":"2021","journal-title":"Ocul. Surf."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Szentmary, N., Suiwal, S., Amini, M., Fries, F.N., Naray, A., Latta, L., Li, Z., Li, S., Liu, S., and Hsu, S.L. (2026). Aniridia-associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets. Acta Ophthalmol., Early View.","DOI":"10.1111\/aos.70086"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Ramos, T., Parekh, M., Kaye, S.B., and Ahmad, S. (2022). Epithelial Cell-Derived Extracellular Vesicles Trigger the Differentiation of Two Epithelial Cell Lines. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23031718"},{"key":"ref_26","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":"ref_27","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.jtos.2025.05.008","article-title":"Transcriptional landscape of aniridia-associated keratopathy through single-cell RNA sequencing","volume":"38","author":"Yoshihara","year":"2025","journal-title":"Ocul. Surf."},{"key":"ref_28","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":"ref_29","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":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1007\/s12672-025-03752-0","article-title":"Recent advances in the study of FAT family genes in lung cancer","volume":"16","author":"Deng","year":"2025","journal-title":"Discov. Oncol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.neuron.2020.01.003","article-title":"LRRTMs Organize Synapses through Differential Engagement of Neurexin and PTPsigma","volume":"106","author":"Roppongi","year":"2020","journal-title":"Neuron"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol."},{"key":"ref_33","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":"ref_34","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":"ref_35","doi-asserted-by":"crossref","first-page":"3383","DOI":"10.1242\/dev.125393","article-title":"Wnt\/beta-catenin signaling modulates corneal epithelium stratification via inhibition of Bmp4 during mouse development","volume":"142","author":"Zhang","year":"2015","journal-title":"Development"},{"key":"ref_36","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":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Wu, J., Zhang, D., Wu, J., and Zhang, S. (2022). Construction of ceRNA network and identification of hub genes in aniridia-associated keratopathy using bioinformatics analysis. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.997581"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"153104","DOI":"10.1016\/j.bbrc.2025.153104","article-title":"PHLPP: A Janus-faced regulator in oncogenesis","volume":"795","author":"Huang","year":"2026","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"104485","DOI":"10.1016\/j.ijgc.2026.104485","article-title":"Targeting RAS-RAF-MEK-ERK signaling in mucinous ovarian cancer: A translational evidence synthesis and clinical framework","volume":"36","author":"Bartl","year":"2026","journal-title":"Int. J. Gynecol. Cancer"},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Kulkarni, B.B., Tighe, P.J., Mohammed, I., Yeung, A.M., Powe, D.G., Hopkinson, A., Shanmuganathan, V.A., and Dua, H.S. (2010). Comparative transcriptional profiling of the limbal epithelial crypt demonstrates its putative stem cell niche characteristics. BMC Genom., 11.","DOI":"10.1186\/1471-2164-11-526"},{"key":"ref_41","first-page":"71","article-title":"Exosome-Transmitted miR-224-5p Promotes Colorectal Cancer Cell Proliferation via Targeting ULK2 in p53-Dependent Manner","volume":"37","author":"Yang","year":"2024","journal-title":"Biomed. Environ. Sci."},{"key":"ref_42","first-page":"1093","article-title":"HCC control by lycorine-based restraining of the MiR-224-5p\/COLEC10 axis","volume":"37","author":"Chen","year":"2024","journal-title":"Pak. J. Pharm. Sci."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Min, M., Chen, X.B., Wang, P., Landeck, L., Chen, J.Q., Li, W., Cai, S.Q., Zheng, M., and Man, X.Y. (2017). Role of keratin 24 in human epidermal keratinocytes. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0174626"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s40364-020-00232-1","article-title":"Lymphocyte antigen 6 superfamily member D is a marker of urothelial and squamous differentiation: Implications for risk stratification of bladder cancer","volume":"8","author":"Andersson","year":"2020","journal-title":"Biomark. Res."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"3456","DOI":"10.1038\/s41467-022-31054-4","article-title":"Ly6D(+)Siglec-H(+) precursors contribute to conventional dendritic cells via a Zbtb46(+)Ly6D(+) intermediary stage","volume":"13","author":"Lutz","year":"2022","journal-title":"Nat. Commun."},{"key":"ref_46","first-page":"e635","article-title":"Protein profiling of conjunctival impression cytology samples of aniridia subjects","volume":"102","author":"Stachon","year":"2023","journal-title":"Acta Ophthalmol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"110934","DOI":"10.1016\/j.exer.2026.110934","article-title":"miR-138-5p overexpression inhibits limbal epithelial cell proliferation and induces cell cycle arrest, in vitro","volume":"266","author":"Suiwal","year":"2026","journal-title":"Exp. Eye Res."},{"key":"ref_48","first-page":"4","article-title":"Genetics and epidemiology of aniridia: Updated guidelines for genetic study","volume":"96","author":"Tarilonte","year":"2021","journal-title":"Arch. Soc. Esp. Oftalmol. (Engl. Ed.)"},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Stachon, T., Suiwal, S., Amini, M., Corton, M., Fries, F.N., Seitz, B., Ludwig, N., Rishik, S., Keller, A., and Szentmary, N. (2026). mRNA Sequencing of Limbal Epithelial Cells and mRNA\/miRNA Profiling of Limbal Stromal Cells in PAX6-Related Congenital Aniridia. Cells, 15.","DOI":"10.3390\/cells15040340"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"e183965","DOI":"10.1172\/jci.insight.183965","article-title":"A human-like model of aniridia-associated keratopathy for mechanistic and therapeutic studies","volume":"10","author":"Javidjam","year":"2024","journal-title":"JCI Insight"},{"key":"ref_51","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":"Eden","year":"2012","journal-title":"Ophthalmology"},{"key":"ref_52","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":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Acosta, M.C., Naray, A., Csidey, M., Maka, E., Nagy, Z.Z., Javorszky, E., Zobor, D., Tory, K., Corton, M., and Kovacs, I. (2026). Age Impairs Corneal Sensitivity and Reflex Tearing in Congenital Aniridia. Cornea, Early View.","DOI":"10.1097\/ICO.0000000000004117"},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Willems, M., Vialaret, J., Girard, M., Feret, N., Bremond-Gignac, D., Chassaing, N., Kindermans, J., Fichter, L., Hirtz, C., and Mollevi, C. (2026). High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridia. BMC Ophthalmol., Early View.","DOI":"10.1186\/s12886-026-04958-8"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"bbaf700","DOI":"10.1093\/bib\/bbaf700","article-title":"Emerging insights into enhancer RNAs: Biogenesis, function, mechanism, and disease implication","volume":"27","author":"Qiu","year":"2026","journal-title":"Brief. Bioinform."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1111\/j.1755-3768.2008.01427.x","article-title":"Aniridia: Current pathology and management","volume":"86","author":"Lee","year":"2008","journal-title":"Acta Ophthalmol."},{"key":"ref_57","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":"ref_58","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/s41419-022-04963-x","article-title":"The role of the PI3K\/AKT signalling pathway in the corneal epithelium: Recent updates","volume":"13","author":"Chen","year":"2022","journal-title":"Cell Death Dis."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1007\/s00417-022-05784-6","article-title":"The effect of a-Lipoic acid (ALA) on oxidative stress, inflammation, and apoptosis in high glucose-induced human corneal epithelial cells","volume":"261","author":"Li","year":"2023","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"e41795","DOI":"10.1016\/j.heliyon.2025.e41795","article-title":"PAX6 enhances Nanog expression by inhibiting NOTCH signaling to promote malignant properties in small cell lung cancer cells","volume":"11","author":"Guo","year":"2025","journal-title":"Heliyon"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"e705","DOI":"10.1097\/MPA.0000000000002497","article-title":"TNFRSF9 Inhibits Pancreatic Cancer Progression by Regulating PAX6-mediated Cell Proliferation, Migration, and Apoptosis","volume":"54","author":"Liu","year":"2025","journal-title":"Pancreas"},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Li, J., Wang, F.L., Yang, T.T., Yu, X.L., Cai, Q.R., Ye, Q.N., Zhang, S., Wang, Q., Dong, H.W., and Liu, J.R. (2026). beta-ionone synergizes with 5-Fluorouracil to inhibit gastric cancer progression through PAX6-mediated cell cycle arrest. BMC Cancer, 26.","DOI":"10.1186\/s12885-026-15540-2"},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Luo, Q., Fu, L., Zhang, J., Zhang, S., Wu, L., Zhu, Q., and Huang, B. (2025). PAX6 Downregulation Triggers HIF-1alpha-Mediated Ferroptosis in Glioma Cells. Biomolecules, 15.","DOI":"10.3390\/biom15101462"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"4757","DOI":"10.1093\/bioinformatics\/btz436","article-title":"snakePipes: Facilitating flexible, scalable and integrative epigenomic analysis","volume":"35","author":"Bhardwaj","year":"2019","journal-title":"Bioinformatics"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: Ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/bioinformatics\/btt656","article-title":"featureCounts: An efficient general purpose program for assigning sequence reads to genomic features","volume":"30","author":"Liao","year":"2014","journal-title":"Bioinformatics"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"3047","DOI":"10.1093\/bioinformatics\/btw354","article-title":"MultiQC: Summarize analysis results for multiple tools and samples in a single report","volume":"32","author":"Ewels","year":"2016","journal-title":"Bioinformatics"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"W397","DOI":"10.1093\/nar\/gkab268","article-title":"miRMaster 2.0: Multi-species non-coding RNA sequencing analyses at scale","volume":"49","author":"Fehlmann","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"D155","DOI":"10.1093\/nar\/gky1141","article-title":"miRBase: From microRNA sequences to function","volume":"47","author":"Kozomara","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"W409","DOI":"10.1093\/nar\/gkab297","article-title":"miRTargetLink 2.0-interactive miRNA target gene and target pathway networks","volume":"49","author":"Kern","year":"2021","journal-title":"Nucleic Acids Res."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/13\/6088\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T17:29:27Z","timestamp":1783531767000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/13\/6088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,7]]},"references-count":70,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2026,7]]}},"alternative-id":["ijms27136088"],"URL":"https:\/\/doi.org\/10.3390\/ijms27136088","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,7]]}}}