{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T07:12:23Z","timestamp":1694589143734},"reference-count":54,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,9,28]],"date-time":"2012-09-28T00:00:00Z","timestamp":1348790400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Spina bifida is one of the most common of all human structural birth defects. Despite considerable effort over several decades, the causes and mechanisms underlying this malformation remain poorly characterized.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>To better understand the pathogenesis of this abnormality, we conducted a microarray study using Mouse Whole Genome Bioarrays which have \u223c36,000 gene targets, to compare gene expression profiles between two mouse models; <jats:italic>CXL\u2010Splotch<\/jats:italic> and <jats:italic>FKBP8<\/jats:italic><jats:sup><jats:italic>Gt(neo<\/jats:italic>)<\/jats:sup> which express a similar spina bifida phenotype. We anticipated that there would be a collection of overlapping genes or shared genetic pathways at the molecular level indicative of a common mechanism underlying the pathogenesis of spina bifida during embryonic development.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>A total of 54 genes were determined to be differentially expressed (25 downregulated, 29 upregulated) in the <jats:italic>FKBP8Gt<\/jats:italic><jats:sup>(<jats:italic>neo<\/jats:italic>)<\/jats:sup> mouse embryos; whereas 73 genes were differentially expressed (56 downregulated, 17 upregulated) in the <jats:italic>CXL\u2010Splotch<\/jats:italic> mouse relative to their wild\u2010type controls. Remarkably, the only two genes that showed decreased expression in both mutants were v\u2010ski sarcoma viral oncogene homolog (<jats:italic>Ski<\/jats:italic>), and <jats:italic>Zic1<\/jats:italic>, a transcription factor member of the zinc finger family. Confirmation analysis using quantitative real\u2010time (qRT)\u2010PCR indicated that only <jats:italic>Zic1<\/jats:italic> was significantly decreased in both mutants. Gene ontology analysis revealed striking enrichment of genes associated with mesoderm and central nervous system development in the <jats:italic>CXL\u2010Splotch<\/jats:italic> mutant embryos, whereas in the <jats:italic>FKBP8<\/jats:italic><jats:sup><jats:italic>Gt(neo<\/jats:italic>)<\/jats:sup> mutants, the genes involved in dorsal\/ventral pattern formation, cell fate specification, and positive regulation of cell differentiation were most likely to be enriched. These results indicate that there are multiple pathways and gene networks perturbed in mouse embryos with shared phenotypes. Birth Defects Research (Part A) 2012. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23081","type":"journal-article","created":{"date-parts":[[2012,9,30]],"date-time":"2012-09-30T13:31:56Z","timestamp":1349011916000},"page":"782-789","source":"Crossref","is-referenced-by-count":1,"title":["Transcriptional analyses of two mouse models of spina bifida"],"prefix":"10.1002","volume":"94","author":[{"given":"Robert M.","family":"Cabrera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard H.","family":"Finnell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiping","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary M.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogdan 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