dc.creator | Torroglosa, Ana | es |
dc.creator | Villalba Benito, Leticia | es |
dc.creator | Fernández, Raquel María | es |
dc.creator | Luzón-Toro, Berta | es |
dc.creator | Moya Jiménez, María José | es |
dc.creator | Antiñolo, Guillermo | es |
dc.creator | Salud, Borrego | es |
dc.date.accessioned | 2023-11-28T12:58:15Z | |
dc.date.available | 2023-11-28T12:58:15Z | |
dc.date.issued | 2020 | |
dc.identifier.citation | Torroglosa, A., Villalba Benito, L., Fernández, R.M., Luzón-Toro, ., Moya Jiménez, M.J., Antiñolo, G. y Salud, B. (2020). Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease. International Journal of Molecular Sciences, 21 (15), 1-13. https://doi.org/10.3390/ijms21155534. | |
dc.identifier.issn | 1422-0067 | es |
dc.identifier.uri | https://hdl.handle.net/11441/151719 | |
dc.description.abstract | Hirschsprung disease (HSCR) is a neurocristopathy defined by intestinal aganglionosis due to alterations during the development of the Enteric Nervous System (ENS). A wide spectrum of molecules involved in different signaling pathways and mechanisms have been described in HSCR onset. Among them, epigenetic mechanisms are gaining increasing relevance. In an effort to better understand the epigenetic basis of HSCR, we have performed an analysis for the identification of long non-coding RNAs (lncRNAs) by qRT-PCR in enteric precursor cells (EPCs) from controls and HSCR patients. We aimed to test the presence of a set lncRNAs among 84 lncRNAs in human EPCs, which were previously related with crucial cellular processes for ENS development, as well as to identify the possible differences between HSCR patients and controls. As a result, we have determined a set of lncRNAs with positive expression in human EPCs that were screened for mutations using the exome data from our cohort of HSCR patients to identify possible variants related to this pathology. Interestingly, we identified three lncRNAs with different levels of their transcripts (SOCS2-AS, MEG3 and NEAT1) between HSCR patients and controls. We propose such lncRNAs as possible regulatory elements implicated in the onset of HSCR as well as potential biomarkers of this pathology. | es |
dc.description.sponsorship | Instituto de Salud Carlos III (European Regional Development Fund/European Social Fund "A way to make Europe"/"Investing in your future") PI16/0142 | es |
dc.description.sponsorship | Instituto de Salud Carlos III (European Regional Development Fund/European Social Fund "A way to make Europe"/"Investing in your future") PI19/01550 | es |
dc.format | application/pdf | es |
dc.format.extent | 13 | es |
dc.language.iso | eng | es |
dc.publisher | MDPI | es |
dc.relation.ispartof | International Journal of Molecular Sciences, 21 (15), 1-13. | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | Gastrointestinal tract | es |
dc.subject | Hirschsprung disease | es |
dc.subject | Enteric nervous system | es |
dc.subject | Stem cells | es |
dc.subject | Neural crest cells | es |
dc.subject | Enteric precursor cells | es |
dc.subject | Epigenetic mechanisms | es |
dc.subject | Long noncoding RNA | es |
dc.title | Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease | es |
dc.type | info:eu-repo/semantics/article | es |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Cirugía | es |
dc.identifier.doi | 10.3390/ijms21155534 | es |
dc.contributor.group | Universidad de Sevilla. CTS-106: Genética Médica en Ciencias de la Salud | es |
dc.journaltitle | International Journal of Molecular Sciences | es |
dc.publication.volumen | 21 | es |
dc.publication.issue | 15 | es |
dc.publication.initialPage | 1 | es |
dc.publication.endPage | 13 | es |