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This process requires a wide and complex variety of molecules and signaling pathways which are activated by transcription factors. In an effort to better understand the etiology of HSCR, we have designed a study to identify new transcription factors participating in different stages of the colonization process. A differential expression study has been performed on a set of transcription factors using Neurosphere-like bodies from both HSCR and control patients. Differential expression levels were found for <jats:italic>CDYL, MEIS1, STAT3<\/jats:italic> and <jats:italic>PAX6<\/jats:italic>. A significantly lower expression level for <jats:italic>PAX6<\/jats:italic> in HSCR patients, would suit with the finding of an over-representation of the larger tandem (AC)m(AG)n repeats within the <jats:italic>PAX6<\/jats:italic> promoter in HSCR patients, with the subsequent loss of protein P300 binding. Alternatively, <jats:italic>PAX6<\/jats:italic> is a target for DNMT3B-dependant methylation, a process already proposed as a mechanism with a role in HSCR. Such decrease in <jats:italic>PAX6<\/jats:italic> expression may influence in the proper function of signaling pathways involved in ENS with the confluence of additional genetic factors to the manifestation of HSCR phenotype.<\/jats:p>","DOI":"10.1038\/srep21160","type":"journal-article","created":{"date-parts":[[2016,2,16]],"date-time":"2016-02-16T11:41:53Z","timestamp":1455622913000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease"],"prefix":"10.1038","volume":"6","author":[{"given":"Mar\u00eda Valle","family":"Enguix-Riego","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Torroglosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel Mar\u00eda","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Moya-Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Carlos","family":"de Agust\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo","family":"Anti\u00f1olo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salud","family":"Borrego","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,2,16]]},"reference":[{"key":"BFsrep21160_CR1","unstructured":"Chakravarti, A. & Lyonnet, S. 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