2017
DOI: 10.1038/s41598-017-06539-8
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Abstract: Hirschsprung disease (HSCR) is attributed to a failure of neural crest cells (NCCs) to migrate, proliferate, differentiate and/or survive in the bowel wall during embryonic Enteric Nervous System (ENS) development. ENS formation is the result from a specific gene expression pattern regulated by epigenetic events, such DNA methylation by the DNA methyltransferases (DNMTs), among other mechanisms. Specifically, DNMT3b de novo methyltransferase is associated with NCCs development and has been shown to be implicat… Show more

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Cited by 18 publications
(18 citation statements)
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“…Hirschsprung disease (HSCR) is a common congenital digestive tract malformation characterized by the disruption of ganglion cells colonizing the distal gut, which causes bowel obstruction and megacolon [1]. The prevalence of HSCR is approximately 1 in 5000 newborns and the incidence rate in males is 4 times more than females [2].…”
Section: Introductionmentioning
confidence: 99%
“…Hirschsprung disease (HSCR) is a common congenital digestive tract malformation characterized by the disruption of ganglion cells colonizing the distal gut, which causes bowel obstruction and megacolon [1]. The prevalence of HSCR is approximately 1 in 5000 newborns and the incidence rate in males is 4 times more than females [2].…”
Section: Introductionmentioning
confidence: 99%
“…There area number of ways to establish aganglionosis in animal models (17)(18)(19). The principle methodis to affect the migration, differentiation and proliferation of NCSCs or artificially destroy the intestinal nervous system with drugs (20). A high folic acid (FA) diet during pregnancy leads to a gradual increase in serum FA in pregnant mice and their offspring, causing aganglionosis in the offspring (21).…”
Section: Discussionmentioning
confidence: 99%
“…In the past few years, the identification of novel susceptibility genes and variants for HSCR was based on the use of GWAS,GWES and next‐generation sequencing (NGS) approaches . All of them have fairly improved our knowledge about the genetic background of the disease.…”
Section: Other Genes and Susceptibility Locimentioning
confidence: 99%
“…In the past few years, the identification of novel susceptibility genes and variants for HSCR was based on the use of GWAS,GWES 20,25,[38][39][40][154][155][156][157][158][159][160][161] and next-generation sequencing (NGS) approaches. [162][163][164][165][166][167][168][169][170] All of them have fairly improved our knowledge about the genetic background of the disease. For instance, a recent GWAS has described that testis-specific A13 genetic variants (a potential susceptible locus in TCA) may affect the extent of aganglionosis during ENS development.…”
Section: New Approachesmentioning
confidence: 99%