2012
DOI: 10.1371/journal.pone.0036524
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Abstract: Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. The RET proto-oncogene is the major gene for HSCR with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. Many other genes have been described to be assoc… Show more

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Cited by 35 publications
(47 citation statements)
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“…NRG1 was first identified as a susceptibility locus for HSCR by a genome‐wide association study (GWAS) . The subsequent studies revealed that rare and common variants in NRG1 might increase the risk of HSCR . Most of the papers dealt with the polymorphism in NRG1 .…”
Section: Discussionmentioning
confidence: 99%
“…NRG1 was first identified as a susceptibility locus for HSCR by a genome‐wide association study (GWAS) . The subsequent studies revealed that rare and common variants in NRG1 might increase the risk of HSCR . Most of the papers dealt with the polymorphism in NRG1 .…”
Section: Discussionmentioning
confidence: 99%
“…Interestingly, the pathway analysis conducted herein reveals further links between DSCAM and HSCR. In particular, NRG-1 , a gene in the network was shown to be associated to HSCR in a genome-wide analysis of a Chinese cohort [19], [31], and also in a Spanish cohort [32]. In fact, NRG-1 is a ligand of ErbB2 and ErbB3 , which are essential for development of the sympathetic nervous system [33].…”
Section: Discussionmentioning
confidence: 99%
“…Following comprehensive association study for NRG1 showed significant associations between NRG1 polymorphisms and the HSCR susceptibility in Spanish (15). In addition, a molecular study showed significant differences in NRG1 expression level between patients and controls (13).…”
Section: What Is Knownmentioning
confidence: 94%