2026-07-21T11:34:06Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/252702024-10-23T13:07:21Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16958

00925njm 22002777a 4500 dc Torroglosa, Ana author Villalba-Benito, Leticia author Fernández, Raquel María author Luzón-Toro, Berta author Moya-Jiménez, María José author Antiñolo, Guillermo author Borrego, Salud author 2020-08-02 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. 10.3390/ijms21155534 1422-0067 International journal of molecular sciences http://hdl.handle.net/10668/16040 32748823 https://hdl.handle.net/20.500.12105/25270 Hirschsprung disease Enteric nervous system Enteric precursor cells Epigenetic mechanisms Gastrointestinal tract Long noncoding RNA Neural crest cells Stem cells Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease.