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Jeong","year":"2017","journal-title":"Oncogenesis"},{"key":"pone.0233582.ref080","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2012\/574768","article-title":"Fibroblast Growth Factor Receptor 2: Expression, Roles, and Potential As a Novel Molecular Target for Colorectal Cancer.","volume":"2012","author":"Y Matsuda","year":"2012","journal-title":"Patholog Res Int."},{"key":"pone.0233582.ref081","doi-asserted-by":"crossref","first-page":"546","DOI":"10.4161\/rna.6.5.9606","article-title":"The epithelial splicing factors ESRP1 and ESRP2 positively and negatively regulate diverse types of alternative splicing events","volume":"6","author":"CC Warzecha","year":"2009","journal-title":"RNA Biol"},{"key":"pone.0233582.ref082","doi-asserted-by":"crossref","first-page":"2918","DOI":"10.1038\/s41598-018-21061-1","article-title":"Epithelial-mesenchymal transition (EMT) signature is inversely associated with T-cell infiltration in non-small cell lung cancer (NSCLC).","volume":"8","author":"YK Chae","year":"2018","journal-title":"Sci Rep."},{"key":"pone.0233582.ref083","doi-asserted-by":"crossref","first-page":"1964","DOI":"10.1093\/nar\/gkp1197","article-title":"Alternative splicing of Tcf7l2 transcripts generates protein variants with differential promoter-binding and transcriptional activation properties at Wnt\/\u03b2-catenin targets","volume":"38","author":"A Weise","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"pone.0233582.ref084","doi-asserted-by":"crossref","first-page":"2383","DOI":"10.1210\/me.2008-0135","article-title":"Minireview: The Wnt Signaling Pathway Effector TCF7L2 and Type 2 Diabetes Mellitus.","volume":"22","author":"T Jin","year":"2008","journal-title":"Mol Endocrinol"},{"key":"pone.0233582.ref085","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1089\/scd.2017.0234","article-title":"A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration","volume":"28","author":"F Serrano","year":"2019","journal-title":"Stem Cells Dev"},{"key":"pone.0233582.ref086","doi-asserted-by":"crossref","first-page":"6714","DOI":"10.1073\/pnas.0707057105","article-title":"Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung\u2019s disease in Bardet-Biedl syndrome","volume":"105","author":"JL Tobin","year":"2008","journal-title":"Proc Natl Acad Sci"},{"key":"pone.0233582.ref087","doi-asserted-by":"crossref","first-page":"641","DOI":"10.5966\/sctm.2012-0043","article-title":"Variability in the Generation of Induced Pluripotent Stem Cells: Importance for Disease Modeling.","volume":"1","author":"AM Vitale","year":"2012","journal-title":"Stem Cells Transl Med"},{"key":"pone.0233582.ref088","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1101\/gr.224436.117","article-title":"Impact of regulatory variation across human iPSCs and differentiated cells","volume":"28","author":"NE Banovich","year":"2018","journal-title":"Genome Res"},{"key":"pone.0233582.ref089","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1261\/rna.065383.117","article-title":"Inhibition of SF3B1 by molecules targeting the spliceosome results in massive aberrant exon skipping","volume":"24","author":"G Wu","year":"2018","journal-title":"RNA"},{"key":"pone.0233582.ref090","doi-asserted-by":"crossref","first-page":"6608","DOI":"10.1073\/pnas.0701919104","article-title":"Network of coregulated spliceosome components revealed by zebrafish mutant in recycling factor p110","volume":"104","author":"NS Trede","year":"2007","journal-title":"Proc Natl Acad Sci"},{"key":"pone.0233582.ref091","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1242\/dev.016865","article-title":"Wnt signaling: an essential regulator of cardiovascular differentiation, morphogenesis and progenitor self-renewal","volume":"135","author":"ED Cohen","year":"2008","journal-title":"Development"},{"key":"pone.0233582.ref092","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1161\/CIRCRESAHA.110.223750","article-title":"The Role of Wnt Signaling in Physiological and Pathological Angiogenesis","volume":"107","author":"E Dejana","year":"2010","journal-title":"Circ Res"},{"key":"pone.0233582.ref093","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1093\/cvr\/cvs141","article-title":"Wnt signalling in smooth muscle cells and its role in cardiovascular disorders","volume":"95","author":"C Mill","year":"2012","journal-title":"Cardiovasc Res"},{"key":"pone.0233582.ref094","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1080\/10409238.2017.1325828","article-title":"The role of Wnt signaling in hematopoietic stem cell development","volume":"52","author":"J Richter","year":"2017","journal-title":"Crit Rev Biochem Mol Biol"},{"key":"pone.0233582.ref095","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1471-2156-10-67","article-title":"Large introns in relation to alternative splicing and gene evolution: a case study of Drosophila bruno-3","volume":"10","author":"NP Kandul","year":"2009","journal-title":"BMC Genet"},{"key":"pone.0233582.ref096","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1002\/bdra.23397","article-title":"EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model","volume":"103","author":"B Deml","year":"2015","journal-title":"Birth Defects Res Part A Clin Mol Teratol"},{"key":"pone.0233582.ref097","doi-asserted-by":"crossref","first-page":"e0219280","DOI":"10.1371\/journal.pone.0219280","article-title":"Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.","volume":"14","author":"M-C Beauchamp","year":"2019","journal-title":"PLoS One"},{"key":"pone.0233582.ref098","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/jmedgenet-2012-101173","article-title":"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia","volume":"49","author":"CT Gordon","year":"2012","journal-title":"J Med Genet"}],"container-title":["PLOS 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