TY - JOUR AU - Enguix-Riego, María Valle AU - Torroglosa, Ana AU - Fernández, Raquel María AU - Moya-Jiménez, María José AU - de Agustín, Juan Carlos AU - Antiñolo, Guillermo AU - Borrego, Salud PY - 2016 DO - 10.1038/srep21160 UR - http://hdl.handle.net/10668/9838 T2 - Scientific reports AB - Hirschsprung disease (HSCR) is attributed to a failure of neural crest derived cells to migrate, proliferate, differentiate or survive in the bowel wall during embryonic Enteric Nervous System (ENS) development. This process requires a wide and... LA - en KW - Alleles KW - Case-Control Studies KW - Child, Preschool KW - DNA (Cytosine-5-)-Methyltransferases KW - Down-Regulation KW - E1A-Associated p300 Protein KW - Enteric Nervous System KW - Female KW - Gene Expression Regulation KW - Genetic Predisposition to Disease KW - Genetic Variation KW - Genotype KW - Hirschsprung Disease KW - Humans KW - Infant KW - Male KW - Microsatellite Repeats KW - Neural Stem Cells KW - PAX6 Transcription Factor KW - Promoter Regions, Genetic KW - Protein Binding KW - Transcription Factors TI - Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease. TY - research article VL - 6 ER -