{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T10:38:05Z","timestamp":1786358285038,"version":"build-2736575974"},"reference-count":86,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T00:00:00Z","timestamp":1785888000000},"content-version":"vor","delay-in-days":35,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR SILENS"],"award-info":[{"award-number":["ANR SILENS"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-24-CE14-3347"],"award-info":[{"award-number":["ANR-24-CE14-3347"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 EY021505"],"award-info":[{"award-number":["R01 EY021505"]}],"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":["R01 EY036923"],"award-info":[{"award-number":["R01 EY036923"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Precise post-transcriptional regulation of gene expression is essential for vertebrate lens development. Disruption of the gene encoding the RNA-binding protein CELF1 leads to early-onset cataract in mice. Here, using iCLIP-seq in lenses, we mapped transcriptome-wide CELF1-binding sites, revealing interactions with the 3\u2032UTRs of key transcripts involved in lens development and pathology like Gja8, Jag1, Maf, Pax6, or Prox1. Integrated analysis with transcriptomic data and luciferase reporter assays demonstrated that binding of CELF1 protein represses its target mRNAs by destabilizing transcripts and\/or inhibiting their translation. Indeed, the cataract-linked genes Maf and Gja8 are upregulated in Celf1-cKO lenses. In Xenopus laevis, overexpression of maf resulted in abnormal lens structure and eye morphology, confirming the developmental relevance of CELF1-mediated repression. Our findings uncover a post-transcriptional network in which CELF1 controls lens morphogenesis by limiting the expression of critical genes at the mRNA level to achieve their proper dosage.<\/jats:p>","DOI":"10.1093\/narmme\/ugag037","type":"journal-article","created":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T11:47:33Z","timestamp":1785930453000},"source":"Crossref","is-referenced-by-count":0,"title":["Mapping of CELF1\u2013RNA interactions reveals post-transcriptional control of lens development"],"prefix":"10.1093","volume":"3","author":[{"given":"Justine","family":"Viet","sequence":"first","affiliation":[{"name":"Univ Rennes, CNRS, IGDR (Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes) , UMR 6290, F-35000 Rennes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Duot","sequence":"additional","affiliation":[{"name":"Univ Rennes, CNRS, IGDR (Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes) , UMR 6290, F-35000 Rennes ,","place":["France"]},{"name":"Department of Biological Sciences, University of Delaware , Newark, DE 19716 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"M\u00e9reau","sequence":"additional","affiliation":[{"name":"Univ Rennes, CNRS, IGDR (Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes) , UMR 6290, F-35000 Rennes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Audic","sequence":"additional","affiliation":[{"name":"Univ Rennes, CNRS, IGDR (Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes) , UMR 6290, F-35000 Rennes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iwan","family":"Jan","sequence":"additional","affiliation":[{"name":"Univ Rennes, CNRS, IGDR (Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes) , UMR 6290, F-35000 Rennes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Reboutier","sequence":"additional","affiliation":[{"name":"Univ Rennes, CNRS, IGDR (Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes) , UMR 6290, F-35000 Rennes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine Le","family":"Goff-Gaillard","sequence":"additional","affiliation":[{"name":"Univ Rennes, CNRS, IGDR (Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes) , UMR 6290, F-35000 Rennes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah Y","family":"Coomson","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware , Newark, DE 19716 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8845-010X","authenticated-orcid":false,"given":"Salil A","family":"Lachke","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware , Newark, DE 19716 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Gautier-Courteille","sequence":"additional","affiliation":[{"name":"Univ Rennes, CNRS, IGDR (Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes) , UMR 6290, F-35000 Rennes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9290-7616","authenticated-orcid":false,"given":"Luc","family":"Paillard","sequence":"additional","affiliation":[{"name":"Univ Rennes, CNRS, IGDR (Institut de G\u00e9n\u00e9tique et D\u00e9veloppement de Rennes) , UMR 6290, F-35000 Rennes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,8,5]]},"reference":[{"key":"2026081006212338400_B1","doi-asserted-by":"publisher","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":"2026081006212338400_B2","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.preteyeres.2017.04.001","article-title":"The lens growth process","volume":"60","author":"Bassnett","year":"2017","journal-title":"Prog Retin Eye Res"},{"key":"2026081006212338400_B3","doi-asserted-by":"publisher","first-page":"1250","DOI":"10.1098\/rstb.2010.0302","article-title":"Biological glass: structural determinants of eye lens transparency","volume":"366","author":"Bassnett","year":"2011","journal-title":"Phil Trans R Soc B"},{"key":"2026081006212338400_B4","doi-asserted-by":"publisher","first-page":"101112","DOI":"10.1016\/j.preteyeres.2022.101112","article-title":"The lens epithelium as a major determinant in the development, maintenance, and regeneration of the crystalline lens","volume":"92","author":"Liu","year":"2023","journal-title":"Prog Retin Eye Res"},{"key":"2026081006212338400_B5","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1097\/ICU.0b013e3283414fc8","article-title":"The global burden of cataract","volume":"22","author":"Rao","year":"2011","journal-title":"Curr Opin Ophthalmol"},{"key":"2026081006212338400_B6","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.exer.2016.06.011","article-title":"Mutations and mechanisms in congenital and age-related cataracts","volume":"156","author":"Shiels","year":"2017","journal-title":"Exp Eye Res"},{"key":"2026081006212338400_B7","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1146\/annurev-vision-091517-034346","article-title":"Biology of inherited cataracts and opportunities for treatment","volume":"5","author":"Shiels","year":"2019","journal-title":"Annu Rev Vis Sci"},{"key":"2026081006212338400_B8","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/S0140-6736(22)01839-6","article-title":"Cataracts","volume":"401","author":"Cicinelli","year":"2023","journal-title":"The Lancet"},{"key":"2026081006212338400_B9","doi-asserted-by":"publisher","first-page":"108662","DOI":"10.1016\/j.exer.2021.108662","article-title":"Inherited cataracts: genetic mechanisms and pathways new and old","volume":"209","author":"Shiels","year":"2021","journal-title":"Exp Eye Res"},{"key":"2026081006212338400_B10","first-page":"2007","article-title":"Cat-Map: putting cataract on the map","volume":"16","author":"Shiels","year":"2010","journal-title":"Mol Vis"},{"key":"2026081006212338400_B11","doi-asserted-by":"publisher","first-page":"785","DOI":"10.3390\/genes15060785","article-title":"Through the Cat-Map gateway: a brief history of cataract genetics","volume":"15","author":"Shiels","year":"2024","journal-title":"Genes"},{"key":"2026081006212338400_B12","doi-asserted-by":"publisher","first-page":"108889","DOI":"10.1016\/j.exer.2021.108889","article-title":"RNA-binding proteins and post-transcriptional regulation in lens biology and cataract: mediating spatiotemporal expression of key factors that control the cell cycle, transcription, cytoskeleton and transparency","volume":"214","author":"Lachke","year":"2022","journal-title":"Exp Eye Res"},{"key":"2026081006212338400_B13","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1002\/wrna.1355","article-title":"RNA-binding proteins in eye development and disease: implication of conserved RNA granule components","volume":"7","author":"Dash","year":"2016","journal-title":"WIREs RNA"},{"key":"2026081006212338400_B14","doi-asserted-by":"publisher","first-page":"1571","DOI":"10.1126\/science.1195970","article-title":"Mutations in the RNA granule component TDRD7 cause cataract and glaucoma","volume":"331","author":"Lachke","year":"2011","journal-title":"Science"},{"key":"2026081006212338400_B15","doi-asserted-by":"publisher","first-page":"2076","DOI":"10.1093\/hmg\/ddaa096","article-title":"The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology","volume":"29","author":"Barnum","year":"2020","journal-title":"Hum Mol Genet"},{"key":"2026081006212338400_B16","doi-asserted-by":"publisher","first-page":"615761","DOI":"10.3389\/fcell.2021.615761","article-title":"Genome-wide analysis of differentially expressed miRNAs and their associated regulatory networks in lenses deficient for the congenital cataract-linked tudor domain containing protein TDRD7","volume":"9","author":"Anand","year":"2021","journal-title":"Front Cell Dev Biol"},{"key":"2026081006212338400_B17","doi-asserted-by":"publisher","first-page":"3595","DOI":"10.1038\/s41467-021-23873-8","article-title":"A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects","volume":"12","author":"Choquet","year":"2021","journal-title":"Nat Commun"},{"key":"2026081006212338400_B18","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1002\/dvdy.24303","article-title":"Deficiency of the RNA binding protein caprin2 causes lens defects and features of Peters anomaly","volume":"244","author":"Dash","year":"2015","journal-title":"Dev Dyn"},{"key":"2026081006212338400_B19","doi-asserted-by":"publisher","first-page":"15029","DOI":"10.1074\/jbc.RA120.012715","article-title":"Implications of RNG140 (caprin2)-mediated translational regulation in eye lens differentiation","volume":"295","author":"Nakazawa","year":"2020","journal-title":"J Biol Chem"},{"key":"2026081006212338400_B20","doi-asserted-by":"publisher","first-page":"3005","DOI":"10.1038\/s41467-021-22782-0","article-title":"Qki activates Srebp2-mediated cholesterol biosynthesis for maintenance of eye lens transparency","volume":"12","author":"Shin","year":"2021","journal-title":"Nat Commun"},{"key":"2026081006212338400_B21","doi-asserted-by":"publisher","first-page":"e1724","DOI":"10.1002\/wrna.1724","article-title":"The Quaking RNA-binding proteins as regulators of cell differentiation","volume":"13","author":"Neumann","year":"2022","journal-title":"WIREs RNA"},{"key":"2026081006212338400_B22","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.ydbio.2026.04.017","article-title":"RNA-binding proteins in the mouse lens: functional classifications, expression profiling, and interaction studies of Carhsp1 with crystallin mRNAs","volume":"536","author":"Ray\u00eae","year":"2026","journal-title":"Dev Biol"},{"key":"2026081006212338400_B23","doi-asserted-by":"publisher","first-page":"11067","DOI":"10.1038\/ncomms11067","article-title":"Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy","volume":"7","author":"Freyermuth","year":"2016","journal-title":"Nat Commun"},{"key":"2026081006212338400_B24","doi-asserted-by":"publisher","first-page":"6477","DOI":"10.1093\/nar\/gkp681","article-title":"MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1","volume":"37","author":"Kino","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"2026081006212338400_B25","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/ng704","article-title":"Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy","volume":"29","author":"Savkur","year":"2001","journal-title":"Nat Genet"},{"key":"2026081006212338400_B26","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.bbrc.2022.07.073","article-title":"The RNA-binding proteins CELF1 and ELAVL1 cooperatively control the alternative splicing of CD44","volume":"626","author":"David","year":"2022","journal-title":"Biochem Biophys Res Commun"},{"key":"2026081006212338400_B27","doi-asserted-by":"publisher","first-page":"150025","DOI":"10.1016\/j.bbrc.2024.150025","article-title":"Gene-gene functional relationships in Alzheimer\u2019s disease: CELF1 regulates KLC1 alternative splicing","volume":"721","author":"Kikuchi","year":"2024","journal-title":"Biochem Biophys Res Commun"},{"key":"2026081006212338400_B28","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/j.molcel.2007.11.024","article-title":"Conserved GU-rich elements mediate mRNA decay by binding to CUG-binding protein 1","volume":"29","author":"Vlasova","year":"2008","journal-title":"Mol Cell"},{"key":"2026081006212338400_B29","doi-asserted-by":"publisher","first-page":"3970","DOI":"10.1128\/MCB.00624-10","article-title":"Analysis of CUGBP1 targets identifies GU-repeat sequences that mediate rapid mRNA decay","volume":"30","author":"Rattenbacher","year":"2010","journal-title":"Mol Cell Biol"},{"key":"2026081006212338400_B30","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1038\/srep00209","article-title":"CUGBP1 and MBNL1 preferentially bind to 3\u2032 UTRs and facilitate mRNA decay","volume":"2","author":"Masuda","year":"2012","journal-title":"Sci Rep"},{"key":"2026081006212338400_B31","doi-asserted-by":"publisher","first-page":"3232","DOI":"10.1074\/jbc.M109362200","article-title":"c-Jun ARE targets mRNA deadenylation by an EDEN-BP (embryo deadenylation element-binding protein)-dependent pathway","volume":"277","author":"Paillard","year":"2002","journal-title":"J Biol Chem"},{"key":"2026081006212338400_B32","doi-asserted-by":"publisher","first-page":"3244","DOI":"10.1128\/MCB.00074-15","article-title":"Hypogonadism associated with Cyp19a1 (aromatase) posttranscriptional upregulation in Celf1 knockout mice","volume":"35","author":"Boulanger","year":"2015","journal-title":"Mol Cell Biol"},{"key":"2026081006212338400_B33","doi-asserted-by":"publisher","first-page":"13362","DOI":"10.1038\/ncomms13362","article-title":"CELF1 is a central node in post-transcriptional regulatory programmes underlying EMT","volume":"7","author":"Chaudhury","year":"2016","journal-title":"Nat Commun"},{"key":"2026081006212338400_B34","doi-asserted-by":"publisher","first-page":"e1007278","DOI":"10.1371\/journal.pgen.1007278","article-title":"The RNA-binding protein Celf1 post-transcriptionally regulates p27Kip1 and Dnase2b to control fiber cell nuclear degradation in lens development","volume":"14","author":"Siddam","year":"2018","journal-title":"PLoS Genet"},{"key":"2026081006212338400_B35","doi-asserted-by":"publisher","first-page":"864","DOI":"10.1126\/science.1062125","article-title":"Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9","volume":"293","author":"Liquori","year":"2001","journal-title":"Science"},{"key":"2026081006212338400_B36","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1002\/iub.379","article-title":"CNBP: a multifunctional nucleic acid chaperone involved in cell death and proliferation control","volume":"62","author":"Calcaterra","year":"2010","journal-title":"IUBMB Life"},{"key":"2026081006212338400_B37","doi-asserted-by":"publisher","first-page":"1541","DOI":"10.1007\/s00439-020-02195-7","article-title":"The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development","volume":"139","author":"Aryal","year":"2020","journal-title":"Hum Genet"},{"key":"2026081006212338400_B38","doi-asserted-by":"publisher","first-page":"1070","DOI":"10.3390\/cells12071070","article-title":"High-throughput transcriptomics of Celf1 conditional knockout lens identifies downstream networks linked to cataract pathology","volume":"12","author":"Siddam","year":"2023","journal-title":"Cells"},{"key":"2026081006212338400_B39","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1016\/j.ymeth.2013.10.011","article-title":"iCLIP: protein\u2013RNA interactions at nucleotide resolution","volume":"65","author":"Huppertz","year":"2014","journal-title":"Methods"},{"key":"2026081006212338400_B40","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1007\/978-1-62703-980-2_27","article-title":"Global protein-RNA interaction mapping at single nucleotide resolution by iCLIP-seq","volume":"1126","author":"Yao","year":"2014","journal-title":"Methods Mol Biol"},{"key":"2026081006212338400_B41","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1128\/MCB.01009-06","article-title":"Inactivation of CUG-BP1\/CELF1 causes growth, viability, and spermatogenesis defects in mice","volume":"27","author":"Kress","year":"2007","journal-title":"Mol Cell Biol"},{"key":"2026081006212338400_B42","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/nsmb.1545","article-title":"An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells","volume":"16","author":"Yeo","year":"2009","journal-title":"Nat Struct Mol Biol"},{"key":"2026081006212338400_B43","doi-asserted-by":"publisher","first-page":"1615","DOI":"10.1093\/bioinformatics\/bty835","article-title":"Colocalization analyses of genomic elements: approaches, recommendations and challenges","volume":"35","author":"Kanduri","year":"2019","journal-title":"Bioinformatics"},{"key":"2026081006212338400_B44","doi-asserted-by":"publisher","first-page":"2834","DOI":"10.1093\/bioinformatics\/btab203","article-title":"STREME: accurate and versatile sequence motif discovery","volume":"37","author":"Bailey","year":"2021","journal-title":"Bioinformatics"},{"key":"2026081006212338400_B45","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1016\/j.bbrc.2010.03.020","article-title":"Chromosome wide analysis of CUGBP1 binding sites identifies the tetraspanin CD9 mRNA as a target for CUGBP1-mediated down-regulation","volume":"394","author":"Le\u00a0Tonqu\u00e8ze","year":"2010","journal-title":"Biochem Biophys Res Commun"},{"key":"2026081006212338400_B46","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.gdata.2016.04.009","article-title":"Identification of CELF1 RNA targets by CLIP-seq in human HeLa cells","volume":"8","author":"Le\u00a0Tonqu\u00e8ze","year":"2016","journal-title":"Genomics Data"},{"key":"2026081006212338400_B47","doi-asserted-by":"publisher","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"2026081006212338400_B48","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1167\/iovs.66.4.42","article-title":"Transcriptome meta-analysis uncovers cell-specific regulatory relationships in embryonic, juvenile, adult, and aged mouse lens epithelium and fibers","volume":"66","author":"Duot","year":"2025","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2026081006212338400_B49","doi-asserted-by":"publisher","first-page":"8507","DOI":"10.1038\/s41467-023-44136-8","article-title":"Distinct gene expression signatures comparing latent tuberculosis infection with different routes of Bacillus Calmette-Gu\u00e9rin vaccination","volume":"14","author":"Silver","year":"2023","journal-title":"Nat Commun"},{"key":"2026081006212338400_B50","doi-asserted-by":"publisher","first-page":"eabq4145","DOI":"10.1126\/scitranslmed.abq4145","article-title":"NAD+ precursors and bile acid sequestration treat preclinical refractory environmental enteric dysfunction","volume":"16","author":"Malique","year":"2024","journal-title":"Sci Transl Med"},{"key":"2026081006212338400_B51","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1038\/s41419-023-05893-y","article-title":"Loss of function mutation in Ank causes aberrant mineralization and acquisition of osteoblast-like-phenotype by the cells of the intervertebral disc","volume":"14","author":"Ohnishi","year":"2023","journal-title":"Cell Death Dis"},{"key":"2026081006212338400_B52","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1016\/j.cmet.2024.03.002","article-title":"Cardiometabolic characteristics of people with metabolically healthy and unhealthy obesity","volume":"36","author":"Petersen","year":"2024","journal-title":"Cell Metab"},{"key":"2026081006212338400_B53","doi-asserted-by":"publisher","DOI":"10.64898\/2025.12.11.693741","article-title":"CompBio and MIRaS \u2013 a Multi-omic Analysis Platform Built on a Memory-Based Intelligence Engine","author":"Barve","journal-title":"bioRxiv"},{"key":"2026081006212338400_B54","doi-asserted-by":"publisher","first-page":"2203","DOI":"10.1038\/s41598-021-81611-y","article-title":"Absence of S100A4 in the mouse lens induces an aberrant retina-specific differentiation program and cataract","volume":"11","author":"Maddala","year":"2021","journal-title":"Sci Rep"},{"key":"2026081006212338400_B55","doi-asserted-by":"publisher","first-page":"dev202249","DOI":"10.1242\/dev.202249","article-title":"Integrated single-cell multiomics uncovers foundational regulatory mechanisms of lens development and pathology","volume":"151","author":"Tangeman","year":"2024","journal-title":"Development"},{"key":"2026081006212338400_B56","doi-asserted-by":"publisher","first-page":"D875","DOI":"10.1093\/nar\/gkx837","article-title":"iSyTE 2.0: a database for expression-based gene discovery in the eye","volume":"46","author":"Kakrana","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2026081006212338400_B57","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.ajpath.2014.09.019","article-title":"The Patched 1 tumor-suppressor gene protects the mouse lens from spontaneous and radiation-induced cataract","volume":"185","author":"De\u00a0Stefano","year":"2015","journal-title":"Am J Pathol"},{"key":"2026081006212338400_B58","doi-asserted-by":"publisher","first-page":"8214","DOI":"10.1167\/iovs.12-11061","article-title":"An ENU mutagenesis screen in zebrafish for visual system mutants identifies a novel splice-acceptor site mutation in patched2 that results in Colobomas","volume":"53","author":"Lee","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2026081006212338400_B59","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1002\/dvdy.147","article-title":"Gautier-Courteille C. Modeling ocular lens disease in Xenopus","volume":"249","author":"Viet","year":"2020","journal-title":"Dev Dyn"},{"key":"2026081006212338400_B60","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/j.exer.2013.07.021","article-title":"The structure and development of Xenopus laevis cornea","volume":"116","author":"Hu","year":"2013","journal-title":"Exp Eye Res"},{"key":"2026081006212338400_B61","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.ydbio.2008.08.016","article-title":"Dominant inhibition of lens placode formation in mice","volume":"323","author":"Zhang","year":"2008","journal-title":"Dev Biol"},{"key":"2026081006212338400_B62","doi-asserted-by":"publisher","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":"2026081006212338400_B63","first-page":"2289","article-title":"Perinatal ablation of the mouse lens causes multiple anterior chamber defects","volume":"13","author":"Zhang","year":"2007","journal-title":"Mol Vis"},{"key":"2026081006212338400_B64","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.ydbio.2009.10.008","article-title":"Semaphorin3A\/neuropilin-1 signaling acts as a molecular switch regulating neural crest migration during cornea development","volume":"336","author":"Lwigale","year":"2009","journal-title":"Dev Biol"},{"key":"2026081006212338400_B65","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1002\/dvdy.10144","article-title":"Disruption of anterior segment development by TGF-beta1 overexpression in the eyes of transgenic mice","volume":"225","author":"Fl\u00fcgel-Koch","year":"2002","journal-title":"Dev Dyn"},{"key":"2026081006212338400_B66","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1093\/hmg\/11.1.33","article-title":"Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma","volume":"11","author":"Jamieson","year":"2002","journal-title":"Hum Mol Genet"},{"key":"2026081006212338400_B67","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1186\/s12881-017-0414-7","article-title":"Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aym\u00e9-Gripp syndrome)","volume":"18","author":"Javadiyan","year":"2017","journal-title":"BMC Med Genet"},{"key":"2026081006212338400_B68","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1007\/s11033-017-4121-4","article-title":"Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56\u2217) CRYGD variant in a family with dominantly inherited congenital cataracts","volume":"44","author":"Dudakova","year":"2017","journal-title":"Mol Biol Rep"},{"key":"2026081006212338400_B69","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.gene.2019.01.011","article-title":"A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes","volume":"692","author":"Si","year":"2019","journal-title":"Gene"},{"key":"2026081006212338400_B70","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1111\/cge.14568","article-title":"Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract","volume":"106","author":"Lecca","year":"2024","journal-title":"Clin Genet"},{"key":"2026081006212338400_B71","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1002\/ajmg.a.31126","article-title":"A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant \u201ccerulean cataract\u201d in an Indian family","volume":"140A","author":"Vanita","year":"2006","journal-title":"Am J Med Genetics Pt A"},{"key":"2026081006212338400_B72","first-page":"2019","article-title":"Novel MAF mutation in a family with congenital cataract-microcornea syndrome","volume":"13","author":"Hansen","year":"2007","journal-title":"Mol Vis"},{"key":"2026081006212338400_B73","doi-asserted-by":"publisher","first-page":"1332992","DOI":"10.3389\/fmed.2024.1332992","article-title":"Case report: whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts","volume":"11","author":"Lin","year":"2024","journal-title":"Front Med"},{"key":"2026081006212338400_B74","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1002\/humu.22948","article-title":"Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing","volume":"37","author":"Ma","year":"2016","journal-title":"Hum Mutat"},{"key":"2026081006212338400_B75","doi-asserted-by":"publisher","first-page":"1272","DOI":"10.1002\/ajmg.a.36433","article-title":"Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature","volume":"164","author":"Narumi","year":"2014","journal-title":"Am J Med Genetics Pt A"},{"key":"2026081006212338400_B76","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/humu.23395","article-title":"Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects","volume":"39","author":"Anand","year":"2018","journal-title":"Hum Mutat"},{"key":"2026081006212338400_B77","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1093\/hmg\/ddm048","article-title":"A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation","volume":"16","author":"Perveen","year":"2007","journal-title":"Hum Mol Genet"},{"key":"2026081006212338400_B78","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1093\/hmg\/ddg063","article-title":"A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding","volume":"12","author":"Lyon","year":"2003","journal-title":"Hum Mol Genet"},{"key":"2026081006212338400_B79","doi-asserted-by":"publisher","first-page":"3781","DOI":"10.1073\/pnas.96.7.3781","article-title":"Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development","volume":"96","author":"Kim","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"2026081006212338400_B80","doi-asserted-by":"publisher","first-page":"19254","DOI":"10.1074\/jbc.274.27.19254","article-title":"Regulation of lens fiber cell differentiation by transcription factor c-Maf","volume":"274","author":"Kawauchi","year":"1999","journal-title":"J Biol Chem"},{"key":"2026081006212338400_B81","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1538\/expanim.19-0137","article-title":"c-MAF deletion in adult C57BL\/6J mice induces cataract formation and abnormal differentiation of lens fiber cells","volume":"69","author":"Fujino","year":"2020","journal-title":"Exp Anim"},{"key":"2026081006212338400_B82","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1534\/genetics.111.136911","article-title":"Gene overexpression: uses, mechanisms, and interpretation","volume":"190","author":"Prelich","year":"2012","journal-title":"Genetics"},{"key":"2026081006212338400_B83","doi-asserted-by":"publisher","first-page":"4269","DOI":"10.1167\/iovs.08-2243","article-title":"Persistent FoxE3 expression blocks cytoskeletal remodeling and organelle degradation during lens fiber differentiation","volume":"49","author":"Landgren","year":"2008","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2026081006212338400_B84","doi-asserted-by":"publisher","first-page":"3589","DOI":"10.1167\/iovs.04-0151","article-title":"Ectopic Pax6 expression disturbs lens fiber cell differentiation","volume":"45","author":"Duncan","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2026081006212338400_B85","doi-asserted-by":"publisher","first-page":"2478","DOI":"10.3390\/cells12202478","article-title":"Eye lens organoids made simple: characterization of a new three-dimensional organoid model for lens development and pathology","volume":"12","author":"Duot","year":"2023","journal-title":"Cells"},{"key":"2026081006212338400_B86","doi-asserted-by":"publisher","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"}],"container-title":["NAR Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/narmolmed\/advance-article-pdf\/doi\/10.1093\/narmme\/ugag037\/70496453\/ugag037.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/narmolmed\/article-pdf\/3\/3\/ugag037\/70496453\/ugag037.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/narmolmed\/article-pdf\/3\/3\/ugag037\/70496453\/ugag037.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T10:21:28Z","timestamp":1786357288000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/narmolmed\/article\/doi\/10.1093\/narmme\/ugag037\/8752634"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":86,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,7,6]]}},"URL":"https:\/\/doi.org\/10.1093\/narmme\/ugag037","relation":{},"ISSN":["2976-856X"],"issn-type":[{"value":"2976-856X","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,7]]},"published":{"date-parts":[[2026,7]]},"article-number":"ugag037"}}