{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T14:06:18Z","timestamp":1773237978779,"version":"3.50.1"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T00:00:00Z","timestamp":1737331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T00:00:00Z","timestamp":1737331200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100019218","name":"INFRAFRONTIER","doi-asserted-by":"publisher","award":["01KX1012"],"award-info":[{"award-number":["01KX1012"]}],"id":[{"id":"10.13039\/100019218","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010661","name":"Horizon 2020 Framework Programme","doi-asserted-by":"publisher","award":["653961"],"award-info":[{"award-number":["653961"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R03OD032622"],"award-info":[{"award-number":["R03OD032622"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54HG006364"],"award-info":[{"award-number":["U54HG006364"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R03OD032622"],"award-info":[{"award-number":["R03OD032622"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","award":["OGI-051"],"award-info":[{"award-number":["OGI-051"]}],"id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genomics"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Purpose<\/jats:title>\n            <jats:p>Corneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous work has elucidated many aspects of CDs, such as presenting symptoms, epidemiology, and pathophysiology, the genetic mechanisms remain incompletely understood. The purpose of this study was to analyze phenotype data from 8,707 knockout mouse lines to identify new genes associated with the development of CDs in humans.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>8,707 knockout mouse lines phenotyped by the International Mouse Phenotyping Consortium were queried for genes associated with statistically significant (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001) abnormal cornea morphology to identify candidate CD genes. Corneal abnormalities were investigated by histopathology. A literature search was used to determine the proportion of candidate genes previously associated with CDs in mice and humans. Phenotypes of human orthologues of mouse candidate genes were compared with known human CD genes to identify protein-protein interactions and molecular pathways using the Search Tool for the Retrieval of Interacting Genes\/Proteins (STRING), Protein Analysis Through Evolutionary Relationships (PANTHER), and Kyoto Encyclopedia of Genes and Genomes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Analysis of data from 8,707 knockout mouse lines identified 213 candidate CD genes. Of these, 37 (17%) genes were previously known to be associated with CD, including 14 in the mouse, 16 in humans, and 7 in both. The remaining 176 (83%) genes have not been previously implicated in CD. We also searched publicly available RNAseq data and found that 131 of the total 213 (61.5%) were expressed in adult human corneal tissue. STRING analysis showed several interactions within and between candidate and established CD proteins. All cellular pathways of the established genes were found in the PANTHER analysis of the candidate genes. Several of the candidate genes were implicated in corneal disease, such as TGF-\u00df signaling. We also identified other possible underappreciated mechanisms relevant to the human cornea.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>We identified 213 mouse genes that resulted in statistically significant abnormal corneal phenotypes in knockout mice, many of which have not previously been implicated in corneal pathology. Bioinformatic analyses implicated candidate genes in several signaling pathways which are potential therapeutic targets.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s12864-025-11222-8","type":"journal-article","created":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T08:51:30Z","timestamp":1737363090000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes"],"prefix":"10.1186","volume":"26","author":[{"given":"Peter","family":"Vo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise M.","family":"Imai-Leonard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Briere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andy","family":"Shao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Isabel","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Adams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Amano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oana","family":"Amarie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zorana","family":"Berberovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynette","family":"Bower","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Braun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Burrill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo Young","family":"Cho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon","family":"Clementson-Mobbs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail","family":"D\u2019Souza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Dickinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Eskandarian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann M.","family":"Flenniken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helmut","family":"Fuchs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerie","family":"Gailus-Durner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Heaney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yann","family":"H\u00e9rault","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin Hrabe de","family":"Angelis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chih-Wei","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shundan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Russell","family":"Joynson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yeon Kyung","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haerim","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Masuya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Meziane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Murray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki-Hoan","family":"Nam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyuna","family":"Noh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauryl M. J.","family":"Nutter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela","family":"Palkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Prochazka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miles Joseph","family":"Raishbrook","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrice","family":"Riet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Ryan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Salazar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zachery","family":"Seavey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John Richard","family":"Seavitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radislav","family":"Sedlacek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Selloum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoung Yul","family":"Seo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Je Kyung","family":"Seong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hae-Sol","family":"Shin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiko","family":"Shiroishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Svenson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaru","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather","family":"Tolentino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uchechukwu","family":"Udensi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Wells","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amelia","family":"Willett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janine","family":"Wotton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Wurst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Yoshiki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"The International Mouse Phenotyping Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"Lanoue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. C. Kent","family":"Lloyd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian C.","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel J.","family":"Roux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colin","family":"McKerlie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ala","family":"Moshiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,20]]},"reference":[{"key":"11222_CR1","doi-asserted-by":"publisher","first-page":"S1","DOI":"10.1097\/ICO.0b013e31817780fb","volume":"27","author":"J Weiss","year":"2008","unstructured":"Weiss J. The IC3D classification of the corneal dystrophies. Cornea. 2008;27:S1. https:\/\/doi.org\/10.1097\/ICO.0b013e31817780fb.","journal-title":"Cornea"},{"key":"11222_CR2","unstructured":"Moshirfar M, Bennett P, Ronquillo Y. Corneal Dystrophy. In: StatPearls. StatPearls Publishing; 2024. Accessed April 17, 2024. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK557865\/"},{"issue":"4","key":"11222_CR3","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1097\/ICO.0000000000003420","volume":"43","author":"JS Weiss","year":"2024","unstructured":"Weiss JS, Rapuano CJ, Seitz B, et al. IC3D classification of corneal dystrophies\u2014Edition 3. Cornea. 2024;43(4):466\u2013527. https:\/\/doi.org\/10.1097\/ICO.0000000000003420.","journal-title":"Cornea"},{"key":"11222_CR4","unstructured":"Elrick H, Peterson KA, Wood JA, et al. The production of 4,182 mouse lines identifies experimental and biological variables impacting Cas9-mediated mutant mouse line production. Published Online Oct. 2021;6. 2021.10.06.463037."},{"issue":"4","key":"11222_CR5","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1038\/s41588-021-00825-y","volume":"53","author":"MC Birling","year":"2021","unstructured":"Birling MC, Yoshiki A, Adams DJ, et al. A resource of targeted mutant mouse lines for 5,061 genes. Nat Genet. 2021;53(4):416\u20139. https:\/\/doi.org\/10.1038\/s41588-021-00825-y.","journal-title":"Nat Genet"},{"issue":"9\u201310","key":"11222_CR6","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1007\/s00335-015-9599-2","volume":"26","author":"N Ring","year":"2015","unstructured":"Ring N, Meehan TF, Blake A, et al. A mouse informatics platform for phenotypic and translational discovery. Mamm Genome. 2015;26(9\u201310):413\u201321. https:\/\/doi.org\/10.1007\/s00335-015-9599-2.","journal-title":"Mamm Genome"},{"issue":"5","key":"11222_CR7","doi-asserted-by":"publisher","first-page":"1492","DOI":"10.1093\/bioinformatics\/btz744","volume":"36","author":"H Haselimashhadi","year":"2020","unstructured":"Haselimashhadi H, Mason JC, Munoz-Fuentes V, et al. Soft windowing application to improve analysis of high-throughput phenotyping data. Bioinformatics. 2020;36(5):1492\u2013500. https:\/\/doi.org\/10.1093\/bioinformatics\/btz744.","journal-title":"Bioinformatics"},{"issue":"D1","key":"11222_CR8","doi-asserted-by":"publisher","first-page":"D1038","DOI":"10.1093\/nar\/gkac972","volume":"51","author":"T Groza","year":"2023","unstructured":"Groza T, Gomez FL, Mashhadi HH, et al. The International mouse phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease. Nucleic Acids Res. 2023;51(D1):D1038\u201345. https:\/\/doi.org\/10.1093\/nar\/gkac972.","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"11222_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s42003-018-0226-0","volume":"1","author":"BA Moore","year":"2018","unstructured":"Moore BA, Leonard BC, Sebbag L, et al. Identification of genes required for eye development by high-throughput screening of mouse knockouts. Commun Biol. 2018;1(1):1\u201312. https:\/\/doi.org\/10.1038\/s42003-018-0226-0.","journal-title":"Commun Biol"},{"key":"11222_CR10","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/1750-1172-4-7","volume":"4","author":"GK Klintworth","year":"2009","unstructured":"Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009;4:7. https:\/\/doi.org\/10.1186\/1750-1172-4-7.","journal-title":"Orphanet J Rare Dis"},{"key":"11222_CR11","unstructured":"Wenger T, Hing A, Evans K. Apert Syndrome Synonym: Acrocephalosyndactyly Type I. Published Online 2019:1\u201329."},{"key":"11222_CR12","unstructured":"Moshirfar M, Hastings J, Ronquillo Y, Patel BC. Keratoendotheliitis Fugax Hereditaria. In: StatPearls. StatPearls Publishing; 2024. Accessed April 17, 2024. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK554436\/"},{"key":"11222_CR13","unstructured":"Moshirfar M, Hastings J, Ronquillo Y. Megalocornea. In: StatPearls. StatPearls Publishing; 2024. Accessed April 17, 2024. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK554374\/"},{"issue":"4","key":"11222_CR14","doi-asserted-by":"publisher","first-page":"195","DOI":"10.3233\/PGE-14102","volume":"3","author":"CM Fecarotta","year":"2014","unstructured":"Fecarotta CM, Huang WW. Pediatric genetic disease of the cornea. J Pediatr Genet. 2014;3(4):195\u2013207. https:\/\/doi.org\/10.3233\/PGE-14102.","journal-title":"J Pediatr Genet"},{"key":"11222_CR15","unstructured":"Guier CP, Patel BC, Stokkermans TJ, Gulani AC. Posterior Polymorphous Corneal Dystrophy. In: StatPearls. StatPearls Publishing; 2024. Accessed April 17, 2024. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK430880\/"},{"key":"11222_CR16","unstructured":"Burnett JR, Hooper AJ, McCormick SP, Hegele RA et al. Tangier Disease. In: Adam MP, Feldman J, Mirzaa GM, eds. GeneReviews\u00ae. University of Washington, Seattle; 1993. Accessed April 17, 2024. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK549920\/"},{"issue":"D1","key":"11222_CR17","doi-asserted-by":"publisher","first-page":"D545","DOI":"10.1093\/nar\/gkaa970","volume":"49","author":"M Kanehisa","year":"2020","unstructured":"Kanehisa M, Furumichi M, Sato Y, Ishiguro-Watanabe M, Tanabe M. KEGG: integrating viruses and cellular organisms. Nucleic Acids Res. 2020;49(D1):D545\u201351. https:\/\/doi.org\/10.1093\/nar\/gkaa970.","journal-title":"Nucleic Acids Res"},{"issue":"11","key":"11222_CR18","doi-asserted-by":"publisher","first-page":"1947","DOI":"10.1002\/pro.3715","volume":"28","author":"M Kanehisa","year":"2019","unstructured":"Kanehisa M. Toward understanding the origin and evolution of cellular organisms. Protein Sci. 2019;28(11):1947\u201351. https:\/\/doi.org\/10.1002\/pro.3715.","journal-title":"Protein Sci"},{"issue":"1","key":"11222_CR19","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1093\/nar\/28.1.27","volume":"28","author":"M Kanehisa","year":"2000","unstructured":"Kanehisa M. KEGG: Kyoto Encyclopedia of genes and genomes. Nucleic Acids Res. 2000;28(1):27\u201330. https:\/\/doi.org\/10.1093\/nar\/28.1.27.","journal-title":"Nucleic Acids Res"},{"issue":"9","key":"11222_CR20","doi-asserted-by":"publisher","first-page":"2129","DOI":"10.1101\/gr.772403","volume":"13","author":"PD Thomas","year":"2003","unstructured":"Thomas PD, Campbell MJ, Kejariwal A, et al. PANTHER: a Library of protein families and subfamilies indexed by function. Genome Res. 2003;13(9):2129\u201341. https:\/\/doi.org\/10.1101\/gr.772403.","journal-title":"Genome Res"},{"issue":"Database issue","key":"11222_CR21","doi-asserted-by":"publisher","first-page":"D204","DOI":"10.1093\/nar\/gkp1019","volume":"38","author":"H Mi","year":"2010","unstructured":"Mi H, Dong Q, Muruganujan A, Gaudet P, Lewis S, Thomas PD. PANTHER version 7: improved phylogenetic trees, orthologs and collaboration with the Gene Ontology Consortium. Nucleic Acids Res. 2010;38(Database issue):D204\u201310. https:\/\/doi.org\/10.1093\/nar\/gkp1019.","journal-title":"Nucleic Acids Res"},{"issue":"10","key":"11222_CR22","doi-asserted-by":"publisher","first-page":"giab061","DOI":"10.1093\/gigascience\/giab061","volume":"10","author":"VS Swamy","year":"2021","unstructured":"Swamy VS, Fufa TD, Hufnagel RB, McGaughey DM. Building the mega single-cell transcriptome ocular meta-atlas. Gigascience. 2021;10(10):giab061. https:\/\/doi.org\/10.1093\/gigascience\/giab061.","journal-title":"Gigascience"},{"key":"11222_CR23","unstructured":"Vaughan. & Asbury\u2019s General Ophthalmology, 19e | AccessMedicine | McGraw Hill Medical. Accessed April 17, 2024. https:\/\/accessmedicine.mhmedical.com\/book.aspx?bookID=2186"},{"issue":"6","key":"11222_CR24","first-page":"565","volume":"10","author":"A Tandon","year":"2010","unstructured":"Tandon A, Tovey JCK, Sharma A, Gupta R, Mohan RR. Role of transforming growth factor beta in corneal function, biology and pathology. Curr Mol Med. 2010;10(6):565\u201378.","journal-title":"Curr Mol Med"},{"issue":"8","key":"11222_CR25","doi-asserted-by":"publisher","first-page":"S25","DOI":"10.1097\/01.ico.0000136668.41000.73","volume":"23","author":"S Saika","year":"2004","unstructured":"Saika S. TGF-\u03b2 Signal Transduction in corneal Wound Healing as a therapeutic target. Cornea. 2004;23(8):S25. https:\/\/doi.org\/10.1097\/01.ico.0000136668.41000.73.","journal-title":"Cornea"},{"issue":"1","key":"11222_CR26","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1038\/s42003-023-04974-0","volume":"6","author":"KA Peterson","year":"2023","unstructured":"Peterson KA, Khalouei S, Hanafi N, et al. Whole genome analysis for 163 gRNAs in Cas9-edited mice reveals minimal off-target activity. Commun Biol. 2023;6(1):626. https:\/\/doi.org\/10.1038\/s42003-023-04974-0.","journal-title":"Commun Biol"}],"container-title":["BMC Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12864-025-11222-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12864-025-11222-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12864-025-11222-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T08:51:40Z","timestamp":1737363100000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcgenomics.biomedcentral.com\/articles\/10.1186\/s12864-025-11222-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,20]]},"references-count":26,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["11222"],"URL":"https:\/\/doi.org\/10.1186\/s12864-025-11222-8","relation":{},"ISSN":["1471-2164"],"issn-type":[{"value":"1471-2164","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,20]]},"assertion":[{"value":"25 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures at each IMPC center adhered to local, state, and national regulatory guidelines, based on the standards of Animal Research: Reporting of In Vivo Experiments guidelines, a list of recommendations to standardize and improve the quality and reproducibility of animal research. A Housing and Husbandry protocol was also followed, which contains a collection of mandatory and optional procedures to be used during international mouse experimentation.4,5 Guidelines can be accessed at . All procedures on live animals were reviewed and approved by associated institutional animal care and use committees (IACUC), animal care committees (ACC), or equivalent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"48"}}