{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T10:35:23Z","timestamp":1791196523841,"version":"4.1.0"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"14","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,7,15]]},"DOI":"10.1093\/hmg\/ddu092","type":"journal-article","created":{"date-parts":[[2014,2,24]],"date-time":"2014-02-24T20:59:45Z","timestamp":1393275585000},"page":"3792-3800","source":"Crossref","is-referenced-by-count":15,"title":["A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice"],"prefix":"10.1093","volume":"23","author":[{"given":"Fubiao","family":"Shi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shimin","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Zhuang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,2,23]]},"reference":[{"key":"key\n\t\t\t\t20170522151408_DDU092C1","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1136\/jmg.25.1.47","article-title":"Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)","volume":"25","author":"Oley","year":"1988","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C2","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/84781","article-title":"The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis\/ptosis\/epicanthus inversus syndrome","volume":"27","author":"Crisponi","year":"2001","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C3","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1093\/hmg\/10.15.1591","article-title":"Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype\u2013phenotype correlation","volume":"10","author":"De Baere","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C4","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/humu.20807","article-title":"FOXL2 mutations and genomic rearrangements in BPES","volume":"30","author":"Beysen","year":"2009","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522151408_DDU092C5","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1086\/432083","article-title":"Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome","volume":"77","author":"Beysen","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C6","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1242\/dev.019778","article-title":"Dlx genes pattern mammalian jaw primordium by regulating both lower jaw-specific and upper jaw-specific genetic programs","volume":"135","author":"Jeong","year":"2008","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522151408_DDU092C7","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1242\/dev.00969","article-title":"The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance","volume":"131","author":"Schmidt","year":"2004","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522151408_DDU092C8","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1093\/hmg\/ddh124","article-title":"Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development","volume":"13","author":"Uda","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C9","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1016\/j.cell.2009.11.021","article-title":"Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation","volume":"139","author":"Uhlenhaut","year":"2009","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522151408_DDU092C10","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/nature10239","article-title":"DMRT1 prevents female reprogramming in the postnatal mammalian testis","volume":"476","author":"Matson","year":"2011","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522151408_DDU092C11","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1242\/jcs.085001","article-title":"Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis","volume":"124","author":"Zhang","year":"2011","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t20170522151408_DDU092C12","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1126\/science.1075703","article-title":"Specification of jaw subdivisions by Dlx genes","volume":"298","author":"Depew","year":"2002","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522151408_DDU092C13","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1086\/426833","article-title":"Long-range control of gene expression: Emerging mechanisms and disruption in disease","volume":"76","author":"Kleinjan","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C14","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1093\/bfgp\/elp022","article-title":"Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease","volume":"8","author":"Kleinjan","year":"2009","journal-title":"Brief. Funct. Genomic. Proteomic."},{"key":"key\n\t\t\t\t20170522151408_DDU092C15","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1093\/hmg\/10.19.2049","article-title":"Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6","volume":"10","author":"Kleinjan","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C16","doi-asserted-by":"crossref","first-page":"7548","DOI":"10.1073\/pnas.112212199","article-title":"Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly","volume":"99","author":"Lettice","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522151408_DDU092C17","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1093\/hmg\/ddg180","article-title":"A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly","volume":"12","author":"Lettice","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C18","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/ng769","article-title":"A 11.7-kb deletion triggers intersexuality and polledness in goats","volume":"29","author":"Pailhoux","year":"2001","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C19","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1023\/B:CHRO.0000034746.46789.e0","article-title":"Conserved patterns of gene expression in mice and goats in the vicinity of the Polled Intersex Syndrome (PIS) locus","volume":"12","author":"Nikic","year":"2004","journal-title":"Chromosome Res."},{"key":"key\n\t\t\t\t20170522151408_DDU092C20","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/j.ygeno.2005.02.011","article-title":"Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter","volume":"85","author":"Pannetier","year":"2005","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20170522151408_DDU092C21","doi-asserted-by":"crossref","first-page":"e1000522","DOI":"10.1371\/journal.pgen.1000522","article-title":"Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening","volume":"5","author":"D'haene","year":"2009","journal-title":"PLoS Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C22","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.cell.2005.07.013","article-title":"Efficient transposition of the piggyBac (PB) transposon in mammalian cells and mice","volume":"122","author":"Ding","year":"2005","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522151408_DDU092C23","doi-asserted-by":"crossref","first-page":"D729","DOI":"10.1093\/nar\/gkm790","article-title":"PBmice: an integrated database system of piggyBac (PB) insertional mutations and their characterizations in mice","volume":"36","author":"Sun","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522151408_DDU092C24","author":"Kaufman","year":"1992","journal-title":"The Atlas of Mouse Development"},{"key":"key\n\t\t\t\t20170522151408_DDU092C25","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1002\/1097-0177(2000)9999:9999<::AID-DVDY1073>3.0.CO;2-F","article-title":"Cranial sutures as intramembranous bone growth sites","volume":"219","author":"Opperman","year":"2000","journal-title":"Dev. Dyn."},{"key":"key\n\t\t\t\t20170522151408_DDU092C26","doi-asserted-by":"crossref","first-page":"3330","DOI":"10.1073\/pnas.0611326104","article-title":"Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomics","volume":"104","author":"Batista","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522151408_DDU092C27","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1136\/jmg.2008.065086","article-title":"Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2","volume":"46","author":"Laissue","year":"2009","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C28","doi-asserted-by":"crossref","first-page":"11357","DOI":"10.1021\/bi00112a001","article-title":"DNA binding specificity of homeodomains","volume":"30","author":"Laughon","year":"1991","journal-title":"Biochemistry"},{"key":"key\n\t\t\t\t20170522151408_DDU092C29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-genom-082509-141651","article-title":"Genomics of long-range regulatory elements","volume":"11","author":"Noonan","year":"2010","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C30","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.cell.2011.01.024","article-title":"Functional and mechanistic diversity of distal transcription enhancers","volume":"144","author":"Bulger","year":"2011","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522151408_DDU092C31","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/ajmg.1320400423","article-title":"Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23","volume":"40","author":"Fukushima","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C32","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/ajmg.1320510317","article-title":"Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]","volume":"51","author":"Boccone","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170522151408_DDU092C33","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1006\/geno.2000.6157","article-title":"Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)","volume":"65","author":"Praphanphoj","year":"2000","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20170522151408_DDU092C34","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1006\/geno.2000.6304","article-title":"Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES","volume":"68","author":"De Baere","year":"2000","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20170522151408_DDU092C35","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.ygeno.2003.11.010","article-title":"FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences","volume":"83","author":"Crisponi","year":"2004","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20170522151408_DDU092C36","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1101\/gad.3.2.158","article-title":"The Hox-1.3 homeo box protein is a sequence-specific DNA-binding phosphoprotein","volume":"3","author":"Odenwald","year":"1989","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522151408_DDU092C37","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1006\/meth.2000.1145","article-title":"Whole-mount in situ hybridization to mouse embryos","volume":"23","author":"Correia","year":"2001","journal-title":"Methods"},{"key":"key\n\t\t\t\t20170522151408_DDU092C38","volume-title":"Manipulating the Mouse Embryo: A Laboratory Manual","author":"Nagy","year":"2003"},{"key":"key\n\t\t\t\t20170522151408_DDU092C39","first-page":"36","article-title":"Image processing with ImageJ","volume":"11","author":"Abramoff","year":"2004","journal-title":"Biophotonics Int."},{"key":"key\n\t\t\t\t20170522151408_DDU092C40","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1101\/gr.2129504","article-title":"zPicture: dynamic alignment and visualization tool for analyzing conservation profiles","volume":"14","author":"Ovcharenko","year":"2004","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20170522151408_DDU092C41","doi-asserted-by":"crossref","first-page":"W273","DOI":"10.1093\/nar\/gkh458","article-title":"VISTA: computational tools for comparative genomics","volume":"32","author":"Frazer","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522151408_DDU092C42","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"2001"},{"key":"key\n\t\t\t\t20170522151408_DDU092C43","doi-asserted-by":"crossref","first-page":"2994","DOI":"10.1128\/MCB.7.8.2994","article-title":"Nuclease sensitivity of the mouse HPRT gene promoter region: differential sensitivity on the active and inactive X chromosomes","volume":"7","author":"Yang","year":"1987","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170522151408_DDU092C44","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/S1097-2765(02)00781-5","article-title":"Looping and interaction between hypersensitive sites in the active beta-globin locus","volume":"10","author":"Tolhuis","year":"2002","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t20170522151408_DDU092C45","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/S0076-6879(03)75030-7","article-title":"3C technology: analyzing the spatial organization of genomic loci in vivo","volume":"375","author":"Splinter","year":"2004","journal-title":"Methods Enzymol."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/23\/14\/3792\/13917262\/ddu092.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T00:19:42Z","timestamp":1503447582000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddu092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,23]]},"references-count":45,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2014,2,23]]},"published-print":{"date-parts":[[2014,7,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddu092","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2,23]]}}}