{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T10:35:43Z","timestamp":1788172543690,"version":"build-2803163510"},"reference-count":124,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2019,6,26]],"date-time":"2019-06-26T00:00:00Z","timestamp":1561507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI16\/0142"],"award-info":[{"award-number":["PI16\/0142"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002878","name":"Consejer\u00eda de Econom\u00eda, Innovaci\u00f3n, Ciencia y Empleo, Junta de Andaluc\u00eda","doi-asserted-by":"publisher","award":["CTS-7447"],"award-info":[{"award-number":["CTS-7447"]}],"id":[{"id":"10.13039\/501100002878","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Hirschsprung disease (HSCR, OMIM 142623) is due to a failure of enteric precursor cells derived from neural crest (EPCs) to proliferate, migrate, survive or differentiate during Enteric Nervous System (ENS) formation. This is a complex process which requires a strict regulation that results in an ENS specific gene expression pattern. Alterations at this level lead to the onset of neurocristopathies such as HSCR. Gene expression is regulated by different mechanisms, such as DNA modifications (at the epigenetic level), transcriptional mechanisms (transcription factors, silencers, enhancers and repressors), postranscriptional mechanisms (3\u2032UTR and ncRNA) and regulation of translation. All these mechanisms are finally implicated in cell signaling to determine the migration, proliferation, differentiation and survival processes for correct ENS development. In this review, we have performed an overview on the role of epigenetic mechanisms at transcriptional and posttranscriptional levels on these cellular events in neural crest cells (NCCs), ENS development, as well as in HSCR.<\/jats:p>","DOI":"10.3390\/ijms20133123","type":"journal-article","created":{"date-parts":[[2019,6,26]],"date-time":"2019-06-26T07:24:17Z","timestamp":1561533857000},"page":"3123","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Epigenetic Mechanisms in Hirschsprung Disease"],"prefix":"10.3390","volume":"20","author":[{"given":"Ana","family":"Torroglosa","sequence":"first","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leticia","family":"Villalba-Benito","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berta","family":"Luz\u00f3n-Toro","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel Mar\u00eda","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo","family":"Anti\u00f1olo","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salud","family":"Borrego","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,6,26]]},"reference":[{"key":"ref_1","unstructured":"Beaudet, A.R., Scriver, C.R., Sly, W., and Valle, D. 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