{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:24:49Z","timestamp":1788305089478,"version":"build-2803163510"},"reference-count":110,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2015,12,15]],"date-time":"2015-12-15T00:00:00Z","timestamp":1450137600000},"content-version":"vor","delay-in-days":348,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ajp.amjpathol.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Pathology"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1016\/j.ajpath.2014.09.002","type":"journal-article","created":{"date-parts":[[2014,11,3]],"date-time":"2014-11-03T17:00:30Z","timestamp":1415034030000},"page":"197-213","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"title":["Multiple Requirements of the Focal Dermal Hypoplasia Gene Porcupine during Ocular Morphogenesis"],"prefix":"10.1016","volume":"185","author":[{"given":"Elizabeth J.","family":"Bankhead","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary P.","family":"Colasanto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayla M.","family":"Dyorich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Jamrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Charles","family":"Murtaugh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Fuhrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajpath.2014.09.002_bib1","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1136\/jmg.27.3.180","article-title":"Focal dermal hypoplasia (Goltz syndrome)","volume":"27","author":"Temple","year":"1990","journal-title":"J Med Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib2","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1001\/archderm.1962.01590120006002","article-title":"Focal dermal hypoplasia","volume":"86","author":"Goltz","year":"1962","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib3","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1038\/ng2057","article-title":"Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia","volume":"39","author":"Wang","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib4","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1038\/ng2052","article-title":"Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia","volume":"39","author":"Grzeschik","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib5","doi-asserted-by":"crossref","first-page":"34167","DOI":"10.1074\/jbc.M112.381970","article-title":"Precise regulation of porcupine activity is required for physiological Wnt signaling","volume":"287","author":"Proffitt","year":"2012","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajpath.2014.09.002_bib6","doi-asserted-by":"crossref","first-page":"4300","DOI":"10.1046\/j.1432-1033.2000.01478.x","article-title":"The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family","volume":"267","author":"Tanaka","year":"2000","journal-title":"Eur J Biochem"},{"key":"10.1016\/j.ajpath.2014.09.002_bib7","doi-asserted-by":"crossref","first-page":"3339","DOI":"10.1242\/dev.02881","article-title":"Porcupine-mediated lipid-modification regulates the activity and distribution of Wnt proteins in the chick neural tube","volume":"134","author":"Galli","year":"2007","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib8","doi-asserted-by":"crossref","first-page":"e34532","DOI":"10.1371\/journal.pone.0034532","article-title":"PORCN moonlights in a Wnt-independent pathway that regulates cancer cell proliferation","volume":"7","author":"Covey","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2014.09.002_bib9","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.diff.2012.06.004","article-title":"A uniform human Wnt expression library reveals a shared secretory pathway and unique signaling activities","volume":"84","author":"Najdi","year":"2012","journal-title":"Differentiation"},{"key":"10.1016\/j.ajpath.2014.09.002_bib10","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1016\/j.cell.2012.05.012","article-title":"Wnt\/beta-catenin signaling and disease","volume":"149","author":"Clevers","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.ajpath.2014.09.002_bib11","doi-asserted-by":"crossref","first-page":"e32331","DOI":"10.1371\/journal.pone.0032331","article-title":"Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome)","volume":"7","author":"Liu","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2014.09.002_bib12","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ydbio.2011.04.029","article-title":"Porcupine homolog is required for canonical Wnt signaling and gastrulation in mouse embryos","volume":"355","author":"Biechele","year":"2011","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib13","doi-asserted-by":"crossref","first-page":"12752","DOI":"10.1073\/pnas.1006437108","article-title":"Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia\/Goltz syndrome","volume":"108","author":"Barrott","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.ajpath.2014.09.002_bib14","doi-asserted-by":"crossref","first-page":"E618","DOI":"10.1002\/humu.20992","article-title":"PORCN mutations in focal dermal hypoplasia: coping with lethality","volume":"30","author":"Bornholdt","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ajpath.2014.09.002_bib15","doi-asserted-by":"crossref","first-page":"e79139","DOI":"10.1371\/journal.pone.0079139","article-title":"Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia","volume":"8","author":"Biechele","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2014.09.002_bib16","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/odi.12083","article-title":"Focal dermal hypoplasia: updates","volume":"20","author":"Wang","year":"2014","journal-title":"Oral Dis"},{"key":"10.1016\/j.ajpath.2014.09.002_bib17","doi-asserted-by":"crossref","first-page":"5561","DOI":"10.1167\/iovs.08-2226","article-title":"A nonautonomous role for retinal Frizzled-5 in regulating hyaloid vitreous vasculature development","volume":"49","author":"Zhang","year":"2008","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib18","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1002\/dvdy.21565","article-title":"Investigation of Frizzled-5 during embryonic neural development in mouse","volume":"237","author":"Burns","year":"2008","journal-title":"Dev Dyn"},{"key":"10.1016\/j.ajpath.2014.09.002_bib19","doi-asserted-by":"crossref","first-page":"4179","DOI":"10.1242\/dev.065839","article-title":"Secreted frizzled-related proteins are required for Wnt\/beta-catenin signalling activation in the vertebrate optic cup","volume":"138","author":"Esteve","year":"2011","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib20","doi-asserted-by":"crossref","first-page":"5328","DOI":"10.1167\/iovs.09-5015","article-title":"Ectopic Mitf in the embryonic chick retina by co-transfection of beta-catenin and Otx2","volume":"51","author":"Westenskow","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib21","doi-asserted-by":"crossref","first-page":"2505","DOI":"10.1242\/dev.032136","article-title":"Beta-catenin controls differentiation of the retinal pigment epithelium in the mouse optic cup by regulating Mitf and Otx2 expression","volume":"136","author":"Westenskow","year":"2009","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib22","doi-asserted-by":"crossref","first-page":"3289","DOI":"10.1242\/dev.040451","article-title":"A directional Wnt\/beta-catenin-Sox2-proneural pathway regulates the transition from proliferation to differentiation in the Xenopus retina","volume":"136","author":"Agathocleous","year":"2009","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib23","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1167\/iovs.08-2270","article-title":"Characterization of a transient TCF\/LEF-responsive progenitor population in the embryonic mouse retina","volume":"50","author":"Fuhrmann","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib24","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.ydbio.2006.08.015","article-title":"Beta-catenin is essential for lamination but not neurogenesis in mouse retinal development","volume":"299","author":"Fu","year":"2006","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib25","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.ydbio.2009.07.002","article-title":"Spatial and temporal regulation of Wnt\/beta-catenin signaling is essential for development of the retinal pigment epithelium","volume":"334","author":"Fujimura","year":"2009","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib26","doi-asserted-by":"crossref","first-page":"3167","DOI":"10.1242\/dev.02474","article-title":"Wnt2b\/beta-catenin-mediated canonical Wnt signaling determines the peripheral fates of the chick eye","volume":"133","author":"Cho","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib27","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.ydbio.2013.04.017","article-title":"Foxg1 is required to limit the formation of ciliary margin tissue and Wnt\/beta-catenin signalling in the developing nasal retina of the mouse","volume":"380","author":"Fotaki","year":"2013","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib28","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1242\/dev.00244","article-title":"Wnt2b controls retinal cell differentiation at the ciliary marginal zone","volume":"130","author":"Kubo","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib29","doi-asserted-by":"crossref","first-page":"e81158","DOI":"10.1371\/journal.pone.0081158","article-title":"Canonical Wnt\/beta-catenin signalling is essential for optic cup formation","volume":"8","author":"H\u00e4gglund","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2014.09.002_bib30","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.ydbio.2007.04.052","article-title":"Ciliary margin transdifferentiation from neural retina is controlled by canonical Wnt signaling","volume":"308","author":"Liu","year":"2007","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib31","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.cell.2009.07.047","article-title":"Norrin, Frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization","volume":"139","author":"Ye","year":"2009","journal-title":"Cell"},{"key":"10.1016\/j.ajpath.2014.09.002_bib32","doi-asserted-by":"crossref","first-page":"2759","DOI":"10.1242\/dev.01856","article-title":"Wnt2b inhibits differentiation of retinal progenitor cells in the absence of Notch activity by downregulating the expression of proneural genes","volume":"132","author":"Kubo","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib33","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1159\/000178017","article-title":"The canonical Wnt pathway regulates retinal stem cells\/progenitors in concert with Notch signaling","volume":"30","author":"Das","year":"2008","journal-title":"Dev Neurosci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib34","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.ydbio.2005.09.051","article-title":"SSEA-1 marks regionally restricted immature subpopulations of embryonic retinal progenitor cells that are regulated by the Wnt signaling pathway","volume":"292","author":"Koso","year":"2006","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib35","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1749-8104-7-30","article-title":"beta-catenin\/Wnt signaling controls progenitor fate in the developing and regenerating zebrafish retina","volume":"7","author":"Meyers","year":"2012","journal-title":"Neural Dev"},{"key":"10.1016\/j.ajpath.2014.09.002_bib36","doi-asserted-by":"crossref","first-page":"e1002757","DOI":"10.1371\/journal.pgen.1002757","article-title":"A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development","volume":"8","author":"Bharti","year":"2012","journal-title":"PLoS Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib37","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.ajpath.2014.09.002_bib38","doi-asserted-by":"crossref","first-page":"3861","DOI":"10.1073\/pnas.071586298","article-title":"Regulation of eye development by Frizzled signaling in Xenopus","volume":"98","author":"Rasmussen","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2014.09.002_bib39","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1242\/dev.02772","article-title":"Tissue\/planar cell polarity in vertebrates: new insights and new questions","volume":"134","author":"Wang","year":"2007","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib40","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.tcb.2008.08.006","article-title":"Ror receptor tyrosine kinases: orphans no more","volume":"18","author":"Green","year":"2008","journal-title":"Trends Cell Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib41","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.neuron.2005.05.026","article-title":"Early stages of zebrafish eye formation require the coordinated activity of Wnt11, Fz5, and the Wnt\/beta-catenin pathway","volume":"47","author":"Cavodeassi","year":"2005","journal-title":"Neuron"},{"key":"10.1016\/j.ajpath.2014.09.002_bib42","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/35011068","article-title":"Silberblick\/Wnt11 mediates convergent extension movements during zebrafish gastrulation","volume":"405","author":"Heisenberg","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.ajpath.2014.09.002_bib43","doi-asserted-by":"crossref","first-page":"2845","DOI":"10.1242\/dev.02445","article-title":"Metastasis-associated kinase modulates Wnt signaling to regulate brain patterning and morphogenesis","volume":"133","author":"Kibardin","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib44","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1038\/sj.emboj.7600603","article-title":"Noncanonical Wnt-4 signaling and EAF2 are required for eye development in Xenopus laevis","volume":"24","author":"Maurus","year":"2005","journal-title":"EMBO J"},{"key":"10.1016\/j.ajpath.2014.09.002_bib45","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1038\/ncb1966","article-title":"The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development","volume":"11","author":"Gray","year":"2009","journal-title":"Nat Cell Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib46","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.ydbio.2010.01.003","article-title":"PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals","volume":"339","author":"Zeng","year":"2010","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib47","doi-asserted-by":"crossref","first-page":"e1001720","DOI":"10.1371\/journal.pbio.1001720","article-title":"Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton","volume":"11","author":"Cui","year":"2013","journal-title":"PLoS Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib48","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.gep.2008.01.007","article-title":"3D representation of Wnt and Frizzled gene expression patterns in the mouse embryo at embryonic day 11.5 (Ts19)","volume":"8","author":"Summerhurst","year":"2008","journal-title":"Gene Expr Patterns"},{"key":"10.1016\/j.ajpath.2014.09.002_bib49","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/dvdy.10315","article-title":"Characterization of Wnt signaling components and activation of the Wnt canonical pathway in the murine retina","volume":"227","author":"Liu","year":"2003","journal-title":"Dev Dyn"},{"key":"10.1016\/j.ajpath.2014.09.002_bib50","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ncomms1269","article-title":"Neural crest cells organize the eye via TGF-beta and canonical Wnt signalling","volume":"2","author":"Grocott","year":"2011","journal-title":"Nat Commun"},{"key":"10.1016\/j.ajpath.2014.09.002_bib51","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.ydbio.2009.04.008","article-title":"Rostral paraxial mesoderm regulates refinement of the eye field through the bone morphogenetic protein (BMP) pathway","volume":"330","author":"Teraoka","year":"2009","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib52","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1098\/rstb.2007.2251","article-title":"From individual Wnt pathways towards a Wnt signalling network","volume":"363","author":"Kestler","year":"2008","journal-title":"Philos Trans R Soc Lond B Biol Sci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib53","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/(SICI)1526-968X(200002)26:2<130::AID-GENE9>3.0.CO;2-I","article-title":"Retina- and ventral forebrain-specific Cre recombinase activity in transgenic mice","volume":"26","author":"Furuta","year":"2000","journal-title":"Genesis"},{"key":"10.1016\/j.ajpath.2014.09.002_bib54","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1016\/S0960-9822(07)00562-3","article-title":"Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase","volume":"8","author":"Danielian","year":"1998","journal-title":"Curr Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib55","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/dvg.20225","article-title":"Rx-Cre, a tool for inactivation of gene expression in the developing retina","volume":"44","author":"Swindell","year":"2006","journal-title":"Genesis"},{"key":"10.1016\/j.ajpath.2014.09.002_bib56","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/5007","article-title":"Generalized lacZ expression with the ROSA26 Cre reporter strain","volume":"21","author":"Soriano","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib57","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1128\/MCB.22.4.1184-1193.2002","article-title":"Negative feedback loop of Wnt signaling through upregulation of conductin\/axin2 in colorectal and liver tumors","volume":"22","author":"Lustig","year":"2002","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib58","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/bdrc.20036","article-title":"Recent innovations in tissue-specific gene modifications in the mouse","volume":"75","author":"Furuta","year":"2005","journal-title":"Birth Defects Res C Embryo Today"},{"key":"10.1016\/j.ajpath.2014.09.002_bib59","first-page":"903","article-title":"Dorsal retinal pigment epithelium differentiates as neural retina in the microphthalmia (mi\/mi) mouse","volume":"41","author":"Bumsted","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib60","doi-asserted-by":"crossref","first-page":"3581","DOI":"10.1242\/dev.127.16.3581","article-title":"Signaling and transcriptional regulation in early mammalian eye development: a link between FGF and MITF","volume":"127","author":"Nguyen","year":"2000","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib61","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1242\/dev.128.11.2019","article-title":"Otx genes are required for tissue specification in the developing eye","volume":"128","author":"Martinez-Morales","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib62","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.exer.2013.09.003","article-title":"Retinal pigment epithelium development, plasticity, and tissue homeostasis","volume":"123","author":"Fuhrmann","year":"2014","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.ajpath.2014.09.002_bib63","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1038\/nn1155","article-title":"Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development","volume":"6","author":"Nishida","year":"2003","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib64","doi-asserted-by":"crossref","first-page":"5088","DOI":"10.1167\/iovs.06-0403","article-title":"Mapping canonical Wnt signaling in the developing and adult retina","volume":"47","author":"Liu","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib65","doi-asserted-by":"crossref","first-page":"3347","DOI":"10.1093\/hmg\/ddi365","article-title":"Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development","volume":"14","author":"Evans","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib66","doi-asserted-by":"crossref","first-page":"4599","DOI":"10.1242\/dev.127.21.4599","article-title":"Extraocular mesenchyme patterns the optic vesicle during early eye development in the embryonic chick","volume":"127","author":"Fuhrmann","year":"2000","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib67","doi-asserted-by":"crossref","first-page":"8698","DOI":"10.1073\/pnas.1103802108","article-title":"Retinoic acid receptor signaling regulates choroid fissure closure through independent mechanisms in the ventral optic cup and periocular mesenchyme","volume":"108","author":"Lupo","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2014.09.002_bib68","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/dvdy.22541","article-title":"Gpr177\/mouse Wntless is essential for Wnt-mediated craniofacial and brain development","volume":"240","author":"Fu","year":"2011","journal-title":"Dev Dyn"},{"key":"10.1016\/j.ajpath.2014.09.002_bib69","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1038\/40146","article-title":"Wnt signalling required for expansion of neural crest and CNS progenitors","volume":"389","author":"Ikeya","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.ajpath.2014.09.002_bib70","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1242\/dev.128.8.1253","article-title":"Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development","volume":"128","author":"Brault","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib71","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1242\/dev.126.6.1211","article-title":"A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo","volume":"126","author":"Yamaguchi","year":"1999","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib72","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1002\/dvg.20651","article-title":"Generation of mice with a conditional null allele for Wntless","volume":"48","author":"Carpenter","year":"2010","journal-title":"Genesis"},{"key":"10.1016\/j.ajpath.2014.09.002_bib73","doi-asserted-by":"crossref","first-page":"18598","DOI":"10.1073\/pnas.0904894106","article-title":"Reciprocal regulation of Wnt and Gpr177\/mouse Wntless is required for embryonic axis formation","volume":"106","author":"Fu","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2014.09.002_bib74","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.devcel.2014.03.016","article-title":"WLS retrograde transport to the endoplasmic reticulum during Wnt secretion","volume":"29","author":"Yu","year":"2014","journal-title":"Dev Cell"},{"key":"10.1016\/j.ajpath.2014.09.002_bib75","doi-asserted-by":"crossref","first-page":"2212","DOI":"10.1093\/hmg\/ddn121","article-title":"Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate","volume":"17","author":"Chiquet","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib76","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000337619","article-title":"Wnt signaling in lip and palate development","volume":"16","author":"He","year":"2012","journal-title":"Front Oral Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib77","doi-asserted-by":"crossref","first-page":"1848","DOI":"10.1093\/hmg\/ddr616","article-title":"Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma","volume":"21","author":"Liu","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib78","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1038\/nn.2794","article-title":"SFRPs act as negative modulators of ADAM10 to regulate retinal neurogenesis","volume":"14","author":"Esteve","year":"2011","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib79","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/aja.1001450402","article-title":"An electron microscopic study of the closure of the optic fissure in the golden hamster","volume":"145","author":"Geeraets","year":"1976","journal-title":"Am J Anat"},{"key":"10.1016\/j.ajpath.2014.09.002_bib80","first-page":"197","article-title":"Optic fissure closure in the normal cinnamon mouse. An ultrastructural study","volume":"31","author":"Hero","year":"1990","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2014.09.002_bib81","doi-asserted-by":"crossref","first-page":"3567","DOI":"10.1242\/dev.028076","article-title":"An essential role for Frizzled 5 in mammalian ocular development","volume":"135","author":"Liu","year":"2008","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib82","doi-asserted-by":"crossref","first-page":"3681","DOI":"10.1002\/dvdy.21770","article-title":"Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes","volume":"237","author":"Zhou","year":"2008","journal-title":"Dev Dyn"},{"key":"10.1016\/j.ajpath.2014.09.002_bib83","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1136\/jmg.2004.025494","article-title":"Ocular coloboma: a reassessment in the age of molecular neuroscience","volume":"41","author":"Gregory-Evans","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib84","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1097\/01.icu.0000243020.82380.f6","article-title":"Uveal coloboma: clinical and basic science update","volume":"17","author":"Chang","year":"2006","journal-title":"Curr Opin Ophthalmol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib85","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1006\/dbio.2001.0280","article-title":"Transdifferentiation of the ventral retinal pigmented epithelium to neural retina in the growth arrest specific gene 1 mutant","volume":"236","author":"Lee","year":"2001","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib86","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1242\/dev.040568","article-title":"COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis","volume":"137","author":"Tang","year":"2010","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib87","doi-asserted-by":"crossref","first-page":"3568","DOI":"10.1093\/hmg\/ddt211","article-title":"Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata","volume":"22","author":"Lee","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib88","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0165-3806(98)00153-9","article-title":"Apoptosis in early ocular morphogenesis in the mouse","volume":"112","author":"Laemle","year":"1999","journal-title":"Brain Res Dev Brain Res"},{"key":"10.1016\/j.ajpath.2014.09.002_bib89","doi-asserted-by":"crossref","first-page":"3215","DOI":"10.1002\/dvdy.22459","article-title":"Canonical Wnt\/beta-catenin signaling is required for maintenance but not activation of Pitx2 expression in neural crest during eye development","volume":"239","author":"Zacharias","year":"2010","journal-title":"Dev Dyn"},{"key":"10.1016\/j.ajpath.2014.09.002_bib90","doi-asserted-by":"crossref","first-page":"4643","DOI":"10.1242\/dev.126.20.4643","article-title":"Dosage requirement of Pitx2 for development of multiple organs","volume":"126","author":"Gage","year":"1999","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib91","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/bies.20009","article-title":"Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases","volume":"26","author":"Cvekl","year":"2004","journal-title":"Bioessays"},{"key":"10.1016\/j.ajpath.2014.09.002_bib92","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.ydbio.2013.09.014","article-title":"Spry1 and Spry2 are necessary for eyelid closure","volume":"383","author":"Kuracha","year":"2013","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib93","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1242\/dev.034082","article-title":"FGF-regulated BMP signaling is required for eyelid closure and to specify conjunctival epithelial cell fate","volume":"136","author":"Huang","year":"2009","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib94","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/j.devcel.2014.02.011","article-title":"Forces generated by cell intercalation tow epidermal sheets in mammalian tissue morphogenesis","volume":"28","author":"Heller","year":"2014","journal-title":"Dev Cell"},{"key":"10.1016\/j.ajpath.2014.09.002_bib95","doi-asserted-by":"crossref","first-page":"2118","DOI":"10.1242\/dev.076067","article-title":"Function of Wnt\/beta-catenin in counteracting Tcf3 repression through the Tcf3-beta-catenin interaction","volume":"139","author":"Wu","year":"2012","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib96","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/S1534-5807(03)00159-X","article-title":"c-Jun is essential for organization of the epidermal leading edge","volume":"4","author":"Li","year":"2003","journal-title":"Dev Cell"},{"key":"10.1016\/j.ajpath.2014.09.002_bib97","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1242\/dev.02381","article-title":"Dkk2 plays an essential role in the corneal fate of the ocular surface epithelium","volume":"133","author":"Mukhopadhyay","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.ajpath.2014.09.002_bib98","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ydbio.2008.02.030","article-title":"The canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development","volume":"317","author":"Gage","year":"2008","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib99","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1042\/BJ20131182","article-title":"The role of the non-canonical Wnt-planar cell polarity pathway in neural crest migration","volume":"457","author":"Mayor","year":"2014","journal-title":"Biochem J"},{"key":"10.1016\/j.ajpath.2014.09.002_bib100","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.stem.2009.01.017","article-title":"Stage-specific control of neural crest stem cell proliferation by the small Rho GTPases Cdc42 and Rac1","volume":"4","author":"Fuchs","year":"2009","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ajpath.2014.09.002_bib101","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ydbio.2013.09.013","article-title":"Inactivation of Cdc42 in neural crest cells causes craniofacial and cardiovascular morphogenesis defects","volume":"383","author":"Liu","year":"2013","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib102","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.ydbio.2008.01.004","article-title":"Ablation of Csk in neural crest lineages causes corneal anomaly by deregulating collagen fibril organization and cell motility","volume":"315","author":"Takatsuka","year":"2008","journal-title":"Dev Biol"},{"key":"10.1016\/j.ajpath.2014.09.002_bib103","first-page":"1144","article-title":"Developmental expression of three small GTPases in the mouse eye","volume":"13","author":"Mitchell","year":"2007","journal-title":"Mol Vis"},{"key":"10.1016\/j.ajpath.2014.09.002_bib104","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.ajpath.2014.09.002_bib105","doi-asserted-by":"crossref","first-page":"e78892","DOI":"10.1371\/journal.pone.0078892","article-title":"Frizzled-5 receptor is involved in neuronal polarity and morphogenesis of hippocampal neurons","volume":"8","author":"Slater","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2014.09.002_bib106","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1093\/hmg\/ddt558","article-title":"Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway","volume":"23","author":"Allache","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib107","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1091\/mbc.e08-07-0711","article-title":"The extracellular domain of Lrp5\/6 inhibits noncanonical Wnt signaling in\u00a0vivo","volume":"20","author":"Bryja","year":"2009","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.ajpath.2014.09.002_bib108","doi-asserted-by":"crossref","first-page":"4267","DOI":"10.1093\/hmg\/ddt277","article-title":"LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure","volume":"22","author":"Gray","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2014.09.002_bib109","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1091\/mbc.e12-06-0437","article-title":"The PCP effector Fuzzy controls cilial assembly and signaling by recruiting Rab8 and Dishevelled to the primary cilium","volume":"24","author":"Zilber","year":"2013","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.ajpath.2014.09.002_bib110","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.ydbio.2011.04.023","article-title":"The Dkk1 dose is critical for eye development","volume":"355","author":"Lieven","year":"2011","journal-title":"Dev Biol"}],"container-title":["The American Journal of Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944014005409?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944014005409?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T14:44:02Z","timestamp":1757601842000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002944014005409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":110,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["S0002944014005409"],"URL":"https:\/\/doi.org\/10.1016\/j.ajpath.2014.09.002","relation":{},"ISSN":["0002-9440"],"issn-type":[{"value":"0002-9440","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Multiple Requirements of the Focal Dermal Hypoplasia Gene Porcupine during Ocular Morphogenesis","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajpath.2014.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 American Society for Investigative Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}