{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:38:13Z","timestamp":1790728693099,"version":"4.1.0"},"reference-count":105,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T00:00:00Z","timestamp":1714608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["205174\/Z\/16\/Z"],"award-info":[{"award-number":["205174\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000849","name":"NC3Rs","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000849","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012618","name":"National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012618","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010757","name":"National Centre for the Replacement Refinement and Reduction of Animals in Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010757","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017645","name":"Moorfields Eye Charity","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100017645","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Stem Cell Reports"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1016\/j.stemcr.2024.05.001","type":"journal-article","created":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T12:24:31Z","timestamp":1717071871000},"page":"839-858","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia"],"prefix":"10.1016","volume":"19","author":[{"given":"Jonathan","family":"Eintracht","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Owen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippa","family":"Harding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1688-5360","authenticated-orcid":false,"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.stemcr.2024.05.001_bib1","doi-asserted-by":"crossref","first-page":"6505","DOI":"10.1007\/s00018-021-03917-4","article-title":"A look into retinal organoids: methods, analytical techniques, and applications","volume":"78","author":"Afanasyeva","year":"2021","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.stemcr.2024.05.001_bib2","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1242\/dev.088096","article-title":"Polycomb repressive complex prc2 regulates xenopus retina development downstream of wnt\/\u03b2-catenin signaling","volume":"140","author":"Aldiri","year":"2013","journal-title":"Development"},{"key":"10.1016\/j.stemcr.2024.05.001_bib3","first-page":"632302","article-title":"The role of lumican in ocular disease","volume":"2013","author":"Amjadi","year":"2013","journal-title":"Int. Sch. Res. Notices"},{"key":"10.1016\/j.stemcr.2024.05.001_bib4","doi-asserted-by":"crossref","first-page":"e97365","DOI":"10.1371\/journal.pone.0097365","article-title":"The hippo pathway controls a switch between retinal progenitor cell proliferation and photoreceptor cell differentiation in zebrafish","volume":"9","author":"Asaoka","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.stemcr.2024.05.001_bib5","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.matbio.2009.02.004","article-title":"Developmental distribution of collagen iv isoforms and relevance to ocular diseases","volume":"28","author":"Bai","year":"2009","journal-title":"Matrix Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib6","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.matbio.2010.04.002","article-title":"Molecular interactions in the retinal basement membrane system: a proteomic approach","volume":"29","author":"Balasubramani","year":"2010","journal-title":"Matrix Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib7","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.3390\/genes14081573","article-title":"Combined single gene testing and genome sequencing as an effective diagnostic approach for anophthalmia and microphthalmia patients","volume":"14","author":"Basharat","year":"2023","journal-title":"Genes"},{"key":"10.1016\/j.stemcr.2024.05.001_bib8","doi-asserted-by":"crossref","first-page":"dev181420","DOI":"10.1242\/dev.181420","article-title":"Optic cup morphogenesis requires neural crest-mediated basement membrane assembly","volume":"147","author":"Bryan","year":"2020","journal-title":"Development"},{"key":"10.1016\/j.stemcr.2024.05.001_bib9","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.ydbio.2016.06.025","article-title":"Loss of laminin alpha 1 results in multiple structural defects and divergent effects on adhesion during vertebrate optic cup morphogenesis","volume":"416","author":"Bryan","year":"2016","journal-title":"Dev. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib10","first-page":"dev171686","article-title":"Reproducibility and staging of 3d human retinal organoids across multiple pluripotent stem cell lines","volume":"146","author":"Capowski","year":"2019","journal-title":"Development"},{"key":"10.1016\/j.stemcr.2024.05.001_bib11","doi-asserted-by":"crossref","first-page":"2625","DOI":"10.1002\/stem.2414","article-title":"Regulation of wnt signaling by vsx2 during optic vesicle patterning in human induced pluripotent stem cells","volume":"34","author":"Capowski","year":"2016","journal-title":"Stem Cell."},{"key":"10.1016\/j.stemcr.2024.05.001_bib12","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.ydbio.2019.04.012","article-title":"Temporal characterization of optic fissure basement membrane composition suggests nidogen may be an initial target of remodeling","volume":"452","author":"Carrara","year":"2019","journal-title":"Dev. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib13","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.ydbio.2021.03.023","article-title":"Build me up optic cup: intrinsic and extrinsic mechanisms of vertebrate eye morphogenesis","volume":"476","author":"Casey","year":"2021","journal-title":"Dev. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib14","doi-asserted-by":"crossref","first-page":"e1283187","DOI":"10.1080\/23262133.2017.1283187","article-title":"Modeling williams syndrome with induced pluripotent stem cells","volume":"4","author":"Chailangkarn","year":"2017","journal-title":"Neurogenesis"},{"key":"10.1016\/j.stemcr.2024.05.001_bib15","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/nature19067","article-title":"A human neurodevelopmental model for williams syndrome","volume":"536","author":"Chailangkarn","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.stemcr.2024.05.001_bib16","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/s41467-021-20892-3","article-title":"Single-cell transcriptomic reveals molecular diversity and developmental heterogeneity of human stem cell-derived oligodendrocyte lineage cells","volume":"12","author":"Chamling","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.stemcr.2024.05.001_bib17","doi-asserted-by":"crossref","first-page":"620774","DOI":"10.3389\/fcell.2020.620774","article-title":"Closing the gap: mechanisms of epithelial fusion during optic fissure closure","volume":"8","author":"Chan","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib18","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1007\/s00335-015-9568-9","article-title":"Genomic regulation of senescence and innate immunity signaling in the retinal pigment epithelium","volume":"26","author":"Chaum","year":"2015","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.stemcr.2024.05.001_bib19","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1387\/ijdb.170167ds","article-title":"Mutation of frizzled8a delays neural retinal cell differentiation and results in microphthalmia in zebrafish","volume":"62","author":"Cheng","year":"2018","journal-title":"Int. J. Dev. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib20","doi-asserted-by":"crossref","first-page":"e95","DOI":"10.1002\/cpsc.95","article-title":"Differentiation of retinal organoids from human pluripotent stem cells","volume":"50","author":"Chichagova","year":"2019","journal-title":"Curr. Protoc. Stem Cell Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib21","doi-asserted-by":"crossref","DOI":"10.1115\/1.4029430","article-title":"Collagen structure and mechanical properties of the human sclera: analysis for the effects of age","volume":"137","author":"Coudrillier","year":"2015","journal-title":"J.\u00a0Biomech. Eng."},{"key":"10.1016\/j.stemcr.2024.05.001_bib22","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1016\/j.cell.2020.08.013","article-title":"Cell types of the human retina and its organoids at single-cell resolution","volume":"182","author":"Cowan","year":"2020","journal-title":"Cell"},{"key":"10.1016\/j.stemcr.2024.05.001_bib23","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/ddz278","article-title":"The master transcription factor sox2, mutated in anophthalmia\/microphthalmia, is post-transcriptionally regulated by the conserved rna-binding protein rbm24 in vertebrate eye development","volume":"29","author":"Dash","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.stemcr.2024.05.001_bib24","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1111\/cge.12379","article-title":"Whole exome analysis identifies dominant col4a1 mutations in patients with complex ocular phenotypes involving microphthalmia","volume":"86","author":"Deml","year":"2014","journal-title":"Clin. Genet."},{"key":"10.1016\/j.stemcr.2024.05.001_bib25","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1186\/1471-2156-11-102","article-title":"Genetic defects of gdf6 in the zebrafish out of sight mutant and in human eye developmental anomalies","volume":"11","author":"Den Hollander","year":"2010","journal-title":"BMC Genet."},{"key":"10.1016\/j.stemcr.2024.05.001_bib26","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1093\/hmg\/ddn024","article-title":"Loss of rb1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma","volume":"17","author":"Dimaras","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.stemcr.2024.05.001_bib27","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1093\/stcltm\/szab010","article-title":"Human retinal organoids provide a suitable tool for toxicological investigations: a comprehensive validation using drugs and compounds affecting the retina","volume":"11","author":"Dorgau","year":"2022","journal-title":"Stem Cells Transl. Med."},{"key":"10.1016\/j.stemcr.2024.05.001_bib28","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.freeradbiomed.2019.11.018","article-title":"Extracellular matrix and oxidative stress regulate human retinal pigment epithelium growth","volume":"146","author":"Eamegdool","year":"2020","journal-title":"Free Radic. Biol. Med."},{"key":"10.1016\/j.stemcr.2024.05.001_bib31","doi-asserted-by":"crossref","first-page":"265","DOI":"10.3389\/fncel.2020.00265","article-title":"The use of induced pluripotent stem cells as a model for developmental eye disorders","volume":"14","author":"Eintracht","year":"2020","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.stemcr.2024.05.001_bib29","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1038\/s41431-019-0565-4","article-title":"Cugc for syndromic microphthalmia including next-generation sequencing-based approaches","volume":"28","author":"Eintracht","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.stemcr.2024.05.001_bib30","doi-asserted-by":"crossref","first-page":"324","DOI":"10.12688\/f1000research.108829.1","article-title":"Efficient embryoid-based method to improve generation of optic vesicles from human induced pluripotent stem cells","volume":"11","author":"Eintracht","year":"2022","journal-title":"F1000res."},{"key":"10.1016\/j.stemcr.2024.05.001_bib32","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/bies.201100070","article-title":"Relaxation-expansion model for self-driven retinal morphogenesis: a hypothesis from the perspective of biosystems dynamics at the multi-cellular level","volume":"34","author":"Eiraku","year":"2012","journal-title":"Bioessays"},{"key":"10.1016\/j.stemcr.2024.05.001_bib33","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.molcel.2011.06.024","article-title":"Commitment to a cellular transition precedes genome-wide transcriptional change","volume":"43","author":"Eser","year":"2011","journal-title":"Mol. Cell"},{"key":"10.1016\/j.stemcr.2024.05.001_bib34","doi-asserted-by":"crossref","first-page":"4636","DOI":"10.1167\/iovs.13-11674","article-title":"Apoptotic and proliferative defects characterize ocular development in a microphthalmic bmp model","volume":"54","author":"French","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.stemcr.2024.05.001_bib35","doi-asserted-by":"crossref","first-page":"60","DOI":"10.4161\/org.4.2.5850","article-title":"Wnt signaling in eye organogenesis","volume":"4","author":"Fuhrmann","year":"2008","journal-title":"Organogenesis"},{"key":"10.1016\/j.stemcr.2024.05.001_bib36","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ajo.2019.04.033","article-title":"The role of fgf9 in the production of neural retina and rpe in a pluripotent stem cell model of early human retinal development","volume":"206","author":"Gamm","year":"2019","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib37","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S0960-9822(01)00662-5","article-title":"Timing of events in mitosis","volume":"12","author":"Georgi","year":"2002","journal-title":"Curr. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib38","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1242\/dev.00275","article-title":"Genetic rescue of cell number in a mouse model of microphthalmia:interactions between chx10 and g1-phase cell cycle regulators","volume":"130","author":"Green","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.stemcr.2024.05.001_bib39","first-page":"1473","article-title":"Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma","volume":"17","author":"Gregory-Evans","year":"2011","journal-title":"Mol. Vis."},{"key":"10.1016\/j.stemcr.2024.05.001_bib40","doi-asserted-by":"crossref","first-page":"361","DOI":"10.3389\/fncel.2019.00361","article-title":"Modeling retinitis pigmentosa: retinal organoids generated from the ipscs of a patient with the ush2a mutation show early developmental abnormalities","volume":"13","author":"Guo","year":"2019","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.stemcr.2024.05.001_bib41","doi-asserted-by":"crossref","first-page":"4466","DOI":"10.1111\/febs.13495","article-title":"New concepts in basement membrane biology","volume":"282","author":"Halfter","year":"2015","journal-title":"FEBS J."},{"key":"10.1016\/j.stemcr.2024.05.001_bib42","doi-asserted-by":"crossref","first-page":"3586","DOI":"10.1167\/iovs.05-1480","article-title":"Regulation of eye size by the retinal basement membrane and vitreous body","volume":"47","author":"Halfter","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.stemcr.2024.05.001_bib43","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/371257a0","article-title":"Pl5ink4b is a potentia| effector of tgf-\u03b2-induced cell cycle arrest","volume":"371","author":"Hannon","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.stemcr.2024.05.001_bib44","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1136\/bjo-2022-321991","article-title":"Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and\/or ocular coloboma","volume":"107","author":"Harding","year":"2022","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib45","doi-asserted-by":"crossref","first-page":"102184","DOI":"10.1016\/j.scr.2021.102184","article-title":"Generation of human ipsc line (ucli013-a) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372c>a p.(asn124lys) in pax6","volume":"51","author":"Harding","year":"2021","journal-title":"Stem Cell Res."},{"key":"10.1016\/j.stemcr.2024.05.001_bib46","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1006\/dbio.2000.9699","article-title":"Microphthalmia due to p53-mediated apoptosis of anterior lens epithelial cells in mice lacking the creb-2 transcription factor","volume":"222","author":"Hettmann","year":"2000","journal-title":"Dev. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib47","doi-asserted-by":"crossref","first-page":"r189","DOI":"10.1186\/ar4379","article-title":"A complex interaction between wnt signaling and tnf-\u03b1 in nucleus pulposus cells","volume":"15","author":"Hiyama","year":"2013","journal-title":"Arthritis Res. Ther."},{"key":"10.1016\/j.stemcr.2024.05.001_bib48","doi-asserted-by":"crossref","first-page":"263","DOI":"10.3390\/genes12020263","article-title":"Linear skin defects with multiple congenital anomalies (lsdmca): an unconventional mitochondrial disorder","volume":"12","author":"Indrieri","year":"2021","journal-title":"Genes"},{"key":"10.1016\/j.stemcr.2024.05.001_bib49","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1111\/dgd.12074","article-title":"The expression of lim-homeobox genes, lhx1 and lhx5, in the forebrain is essential for neural retina differentiation","volume":"55","author":"Inoue","year":"2013","journal-title":"Dev. Growth Differ."},{"key":"10.1016\/j.stemcr.2024.05.001_bib50","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1038\/s41419-018-0867-4","article-title":"Xaf1 forms a positive feedback loop with irf-1 to drive apoptotic stress response and suppress tumorigenesis","volume":"9","author":"Jeong","year":"2018","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.stemcr.2024.05.001_bib51","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.ydbio.2016.09.001","article-title":"Yap is essential for retinal progenitor cell cycle progression and rpe cell fate acquisition in the developing mouse eye","volume":"419","author":"Kim","year":"2016","journal-title":"Dev. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib52","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature09342","article-title":"Epigenetic memory in induced pluripotent stem cells","volume":"467","author":"Kim","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.stemcr.2024.05.001_bib53","doi-asserted-by":"crossref","first-page":"170134","DOI":"10.1098\/rsob.170134","article-title":"Tgf\u03b2-facilitated optic fissure fusion and the role of bone morphogenetic protein antagonism","volume":"8","author":"Knickmeyer","year":"2018","journal-title":"Open Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib54","doi-asserted-by":"crossref","first-page":"5826","DOI":"10.1038\/s41467-021-26059-4","article-title":"Single-cell analysis of patient-derived pdac organoids reveals cell state heterogeneity and a conserved developmental hierarchy","volume":"12","author":"Krieger","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.stemcr.2024.05.001_bib55","doi-asserted-by":"crossref","first-page":"138102","DOI":"10.1103\/PhysRevLett.127.138102","article-title":"Elastic instabilities govern the morphogenesis of the optic cup","volume":"127","author":"Lee","year":"2021","journal-title":"Phys. Rev. Lett."},{"key":"10.1016\/j.stemcr.2024.05.001_bib56","doi-asserted-by":"crossref","first-page":"e12670","DOI":"10.15252\/emmm.202012670","article-title":"Non-genetic heterogeneity, altered cell fate and differentiation therapy","volume":"13","author":"Lewis","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.stemcr.2024.05.001_bib57","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/s41419-019-1987-1","article-title":"Impaired wnt\/\u03b2-catenin pathway leads to dysfunction of intestinal regeneration during necrotizing enterocolitis","volume":"10","author":"Li","year":"2019","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.stemcr.2024.05.001_bib58","doi-asserted-by":"crossref","first-page":"e0159639","DOI":"10.1371\/journal.pone.0159639","article-title":"Requirement of smad4 from ocular surface ectoderm for retinal development","volume":"11","author":"Li","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.stemcr.2024.05.001_bib59","doi-asserted-by":"crossref","first-page":"86","DOI":"10.3389\/fnana.2016.00086","article-title":"Hdbr expression: a unique resource for global and individual gene expression studies during early human brain development","volume":"10","author":"Lindsay","year":"2016","journal-title":"Front. Neuroanat."},{"key":"10.1016\/j.stemcr.2024.05.001_bib60","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1002\/dvdy.422","article-title":"Pax2a, but not pax2b, influences cell survival and periocular mesenchyme localization to facilitate zebrafish optic fissure closure","volume":"251","author":"Lusk","year":"2022","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.stemcr.2024.05.001_bib61","first-page":"277","article-title":"Regulation of bfgf and tgf-\u03b22 in human scleral fibroblasts by the lumican gene mutation associated with myopia","volume":"57","author":"Lyu","year":"2021","journal-title":"Zhonghua. Yan Ke Za Zhi."},{"key":"10.1016\/j.stemcr.2024.05.001_bib62","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1038\/s10038-018-0504-1","article-title":"Identification of novel pathogenic variants and novel gene-phenotype correlations in mexican subjects with microphthalmia and\/or anophthalmia by next-generation sequencing","volume":"63","author":"Mat\u00edas-P\u00e9rez","year":"2018","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.stemcr.2024.05.001_bib63","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1038\/s41419-020-03090-9","article-title":"Atrip protects progenitor cells against dna damage in\u00a0vivo","volume":"11","author":"Matos-Rodrigues","year":"2020","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.stemcr.2024.05.001_bib64","doi-asserted-by":"crossref","first-page":"731308","DOI":"10.3389\/fcell.2021.731308","article-title":"An eye in the replication stress response: lessons from tissue-specific studies in\u00a0vivo","volume":"9","author":"Matos-Rodrigues","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib65","doi-asserted-by":"crossref","first-page":"102113","DOI":"10.1016\/j.scr.2020.102113","article-title":"Generation of two human control ips cell lines (ucli016-a and ucli017-a) from healthy donors with no known ocular conditions","volume":"49","author":"M\u00e9j\u00e9case","year":"2020","journal-title":"Stem Cell Res."},{"key":"10.1016\/j.stemcr.2024.05.001_bib66","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1002\/stem.2023","article-title":"Igf-1 signaling plays an important role in the formation of three-dimensional laminated neural retina and other ocular structures from human embryonic stem cells","volume":"33","author":"Mellough","year":"2015","journal-title":"Stem Cell."},{"key":"10.1016\/j.stemcr.2024.05.001_bib67","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/dvdy.20128","article-title":"Raldh2 expression in optic vesicle generates a retinoic acid signal needed for invagination of retina during optic cup formation","volume":"231","author":"Mic","year":"2004","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.stemcr.2024.05.001_bib68","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1023\/A:1014995523521","article-title":"Nidogen-1 and nidogen-2 are found in basement membranes during human embryonic development","volume":"33","author":"Miosge","year":"2001","journal-title":"Histochem. J."},{"key":"10.1016\/j.stemcr.2024.05.001_bib69","doi-asserted-by":"crossref","first-page":"10551","DOI":"10.1523\/JNEUROSCI.5563-09.2010","article-title":"Lim-homeobox gene lhx5 is required for normal development of cajal-retzius cells","volume":"30","author":"Miquelaj\u00e1uregui","year":"2010","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.stemcr.2024.05.001_bib70","doi-asserted-by":"crossref","first-page":"e52963","DOI":"10.15252\/embr.202152963","article-title":"Intertissue mechanical interactions shape the olfactory circuit in zebrafish","volume":"23","author":"Monnot","year":"2022","journal-title":"Embo Rep."},{"key":"10.1016\/j.stemcr.2024.05.001_bib71","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1097\/MPG.0000000000002450","article-title":"Biliary atresia as a disease starting in utero: implications for treatment, diagnosis, and pathogenesis","volume":"69","author":"Mysore","year":"2019","journal-title":"J.\u00a0Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.stemcr.2024.05.001_bib72","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1007\/s10237-016-0771-8","article-title":"Tissue growth constrained by extracellular matrix drives invagination during optic cup morphogenesis","volume":"15","author":"Oltean","year":"2016","journal-title":"Biomech. Model. Mechanobiol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib73","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.stem.2016.03.021","article-title":"Identification and correction of mechanisms underlying inherited blindness in human ipsc-derived optic cups","volume":"18","author":"Parfitt","year":"2016","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.stemcr.2024.05.001_bib74","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.ophtha.2018.12.050","article-title":"The oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders","volume":"126","author":"Patel","year":"2019","journal-title":"Ophthalmology"},{"key":"10.1016\/j.stemcr.2024.05.001_bib75","doi-asserted-by":"crossref","first-page":"1480","DOI":"10.1002\/stem.1667","article-title":"Modeling human retinal development with patient-specific induced pluripotent stem cells reveals multiple roles for visual system homeobox 2","volume":"32","author":"Phillips","year":"2014","journal-title":"Stem Cell."},{"key":"10.1016\/j.stemcr.2024.05.001_bib76","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1007\/s00439-019-01977-y","article-title":"Genetics of anophthalmia and microphthalmia. Part 1: non-syndromic anophthalmia\/microphthalmia","volume":"138","author":"Plaisanci\u00e9","year":"2019","journal-title":"Hum. Genet."},{"key":"10.1016\/j.stemcr.2024.05.001_bib77","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1007\/s10571-021-01073-8","article-title":"Changes in the brain extracellular matrix composition in schizophrenia: a pathophysiological dysregulation and a potential therapeutic target","volume":"42","author":"Rodrigues-Amorim","year":"2022","journal-title":"Cell. Mol. Neurobiol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib78","doi-asserted-by":"crossref","first-page":"e69209","DOI":"10.1371\/journal.pone.0069209","article-title":"Nbn and atm cooperate in a tissue and developmental stage-specific manner to prevent double strand breaks and apoptosis in developing brain and eye","volume":"8","author":"Rodrigues","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.stemcr.2024.05.001_bib79","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1111\/j.1095-8649.2009.02184.x","article-title":"Caspases: evolutionary aspects of their functions in vertebrates","volume":"74","author":"Sakamaki","year":"2009","journal-title":"J.\u00a0Fish. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib80","doi-asserted-by":"crossref","first-page":"5996","DOI":"10.1523\/JNEUROSCI.0551-18.2018","article-title":"Laminin \u03b22 chain regulates retinal progenitor cell mitotic spindle orientation via dystroglycan","volume":"38","author":"Serjanov","year":"2018","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.stemcr.2024.05.001_bib81","doi-asserted-by":"crossref","first-page":"111250","DOI":"10.1016\/j.nut.2021.111250","article-title":"Gestational folic acid deficiency alters embryonic eye development: possible role of basement membrane proteins in eye malformations","volume":"90","author":"Sijilmassi","year":"2021","journal-title":"Nutrition"},{"key":"10.1016\/j.stemcr.2024.05.001_bib82","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1007\/s00431-006-0120-5","article-title":"Maternal vitamin a deficiency and neonatal microphthalmia: complications of biliopancreatic diversion?","volume":"165","author":"Smets","year":"2006","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.stemcr.2024.05.001_bib83","doi-asserted-by":"crossref","first-page":"e0163165","DOI":"10.1371\/journal.pone.0163165","article-title":"Enlargement of the axial length and altered ultrastructural features of the sclera in a mutant lumican transgenic mouse model","volume":"11","author":"Song","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.stemcr.2024.05.001_bib84","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1471-2407-5-36","article-title":"Mutation analysis of genes that control the g1\/s cell cycle in melanoma: tp53, cdkn1a, cdkn2a, and cdkn2b","volume":"5","author":"Soto","year":"2005","journal-title":"Bmc Cancer"},{"key":"10.1016\/j.stemcr.2024.05.001_bib85","doi-asserted-by":"crossref","first-page":"4959","DOI":"10.1242\/dev.096990","article-title":"Rpe specification in the chick is mediated by surface ectoderm-derived bmp and wnt signalling","volume":"140","author":"Steinfeld","year":"2013","journal-title":"Development"},{"key":"10.1016\/j.stemcr.2024.05.001_bib86","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1172\/JCI77075","article-title":"Taspase1-dependent tfiia cleavage coordinates head morphogenesis by limiting cdkn2a locus transcription","volume":"125","author":"Takeda","year":"2015","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.stemcr.2024.05.001_bib87","doi-asserted-by":"crossref","first-page":"2239","DOI":"10.1002\/stem.2675","article-title":"Modeling glaucoma: retinal ganglion cells generated from induced pluripotent stem cells of patients with six6 risk allele show developmental abnormalities","volume":"35","author":"Teotia","year":"2017","journal-title":"Stem Cell."},{"key":"10.1016\/j.stemcr.2024.05.001_bib88","doi-asserted-by":"crossref","first-page":"a13","DOI":"10.1530\/REP-20-0071","article-title":"Preimplantation genetic testing: preimplantation genetic testing for polygenic disease risk","volume":"160","author":"Treff","year":"2020","journal-title":"Reproduction"},{"key":"10.1016\/j.stemcr.2024.05.001_bib89","doi-asserted-by":"crossref","first-page":"293","DOI":"10.3390\/biom13020293","article-title":"Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate species","volume":"13","author":"Trejo-Reveles","year":"2023","journal-title":"Biomolecules"},{"key":"10.1016\/j.stemcr.2024.05.001_bib90","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1111\/imr.12541","article-title":"Caspase-8: regulating life and death","volume":"277","author":"Tummers","year":"2017","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.stemcr.2024.05.001_bib91","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1177\/33.7.3159787","article-title":"Localization of laminin, type iv collagen, fibronectin, and heparan sulfate proteoglycan in chick retinal pigment epithelium basement membrane during embryonic development","volume":"33","author":"Turksen","year":"1985","journal-title":"J.\u00a0Histochem. Cytochem."},{"key":"10.1016\/j.stemcr.2024.05.001_bib92","first-page":"1516","article-title":"The association of lumican polymorphisms and high myopia in a southern chinese population","volume":"10","author":"Wang","year":"2017","journal-title":"Int. J. Ophthalmol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib93","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1016\/j.celrep.2018.01.075","article-title":"Retinal cell type dna methylation and histone modifications predict reprogramming efficiency and retinogenesis in 3d organoid cultures","volume":"22","author":"Wang","year":"2018","journal-title":"Cell Rep."},{"key":"10.1016\/j.stemcr.2024.05.001_bib94","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1038\/s41418-022-01008-w","article-title":"Wnt\/beta-catenin signaling confers ferroptosis resistance by targeting gpx4 in gastric cancer","volume":"29","author":"Wang","year":"2022","journal-title":"Cell Death Differ."},{"key":"10.1016\/j.stemcr.2024.05.001_bib95","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.ejmg.2014.05.002","article-title":"The genetic architecture of microphthalmia, anophthalmia and coloboma","volume":"57","author":"Williamson","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.stemcr.2024.05.001_bib96","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1038\/s41436-019-0685-9","article-title":"Recurrent heterozygous pax6 missense variants cause severe bilateral microphthalmia via predictable effects on dna\u2013protein interaction","volume":"22","author":"Williamson","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.stemcr.2024.05.001_bib97","first-page":"1475","article-title":"Hccs loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations","volume":"13","author":"Wimplinger","year":"2007","journal-title":"Mol. Vis."},{"key":"10.1016\/j.stemcr.2024.05.001_bib98","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1167\/iovs.02-0317","article-title":"Microphthalmia resulting from msx2-induced apoptosis in the optic vesicle","volume":"44","author":"Wu","year":"2003","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.stemcr.2024.05.001_bib99","doi-asserted-by":"crossref","first-page":"2047","DOI":"10.1038\/s41467-021-22327-5","article-title":"Dominant role of cdkn2b\/p15ink4b of 9p21.3 tumor suppressor hub in inhibition of cell-cycle and glycolysis","volume":"12","author":"Xia","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.stemcr.2024.05.001_bib100","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.ydbio.2007.01.021","article-title":"The proliferation and expansion of retinal stem cells require functional pax6","volume":"304","author":"Xu","year":"2007","journal-title":"Dev. Biol."},{"key":"10.1016\/j.stemcr.2024.05.001_bib101","doi-asserted-by":"crossref","first-page":"3027","DOI":"10.1242\/dev.01881","article-title":"Histone deacetylase 1 regulates retinal neurogenesis in zebrafish by suppressing wnt and notch signaling pathways","volume":"132","author":"Yamaguchi","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.stemcr.2024.05.001_bib102","doi-asserted-by":"crossref","first-page":"28141","DOI":"10.1074\/jbc.M109.043679","article-title":"Knockdown of zebrafish lumican gene (zlum) causes scleral thinning and increased size of scleral coats","volume":"285","author":"Yeh","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.stemcr.2024.05.001_bib103","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1002\/ajmg.c.31831","article-title":"Ocular coloboma: genetic variants reveal a dynamic model of eye development","volume":"184","author":"Yoon","year":"2020","journal-title":"Am. J. Med. Genet. C Sem. Med. Genet."},{"key":"10.1016\/j.stemcr.2024.05.001_bib104","first-page":"2843","article-title":"Lens-specific deletion of the msx2 gene increased apoptosis by enhancing the caspase-3\/caspase-8 signaling pathway","volume":"46","author":"Yu","year":"2018","journal-title":"J.\u00a0Int. Med. Res."},{"key":"10.1016\/j.stemcr.2024.05.001_bib105","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1083\/jcb.201601061","article-title":"The mitochondrial protein chchd2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages","volume":"215","author":"Zhu","year":"2016","journal-title":"J.\u00a0Cell Biol."}],"container-title":["Stem Cell Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S221367112400119X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S221367112400119X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T01:19:10Z","timestamp":1728004750000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S221367112400119X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":105,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["S221367112400119X"],"URL":"https:\/\/doi.org\/10.1016\/j.stemcr.2024.05.001","relation":{},"ISSN":["2213-6711"],"issn-type":[{"value":"2213-6711","type":"print"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia","name":"articletitle","label":"Article Title"},{"value":"Stem Cell Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.stemcr.2024.05.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors.","name":"copyright","label":"Copyright"}]}}