ArticleHuman genetics2013
RET and NRG1 interplay in Hirschsprung disease.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.Human molecular genetics · 2016Pooled it
- DNER as a novel protein contributes to HSCR pathogenesis: multi-omics combined Mendelian randomization analysis.Pediatric research · 2026Article
- Neuregulin 1 (NRG1) and its receptors in the enteric nervous system and other parts of the gastrointestinal wall.Histology and histopathology · 2024Review
- Urine miRNA signature as potential non-invasive diagnostic biomarker for Hirschsprung's disease.Frontiers in molecular neuroscience · 2024Article
- The interplay of common genetic variants NRG1 rs2439302 and RET rs2435357 increases the risk of developing Hirschsprung's disease.Frontiers in cell and developmental biology · 2023Article
- Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease.Scientific reports · 2022Article
- Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease.International journal of molecular sciences · 2021Review
- Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.PLoS genetics · 2021Article
- Review
- Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.The Journal of clinical investigation · 2021Article
- Correlation analysis of IL-11 polymorphisms and Hirschsprung disease subtype susceptibility in Southern Chinese Children.BMC medical genomics · 2021Article
- The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.Frontiers in pediatrics · 2021Review
- The Endocrine Disruptor Bisphenol A (BPA) Affects the Enteric Neurons Immunoreactive to Neuregulin 1 (NRG1) in the Enteric Nervous System of the Porcine Large Intestine.International journal of molecular sciences · 2020Article
- Significant Association of rs2147555 Genetic Polymorphism in theBioMed research international · 2020Article
- Negative Association Between lncRNAPharmacogenomics and personalized medicine · 2020Article
- Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease.Orphanet journal of rare diseases · 2019Article
- Impaired Expression of Neuregulin 1 and Nicotinic Acetylcholine Receptor β4 Subunit in Diverticular Disease.Frontiers in cellular neuroscience · 2019Article
- Migration and diversification of the vagal neural crest.Developmental biology · 2018Review
- The Influence of Bisphenol A (BPA) on Neuregulin 1-Like Immunoreactive Nerve Fibers in the Wall of Porcine Uterus.International journal of molecular sciences · 2018Article
- NRG1 variant effects in patients with Hirschsprung disease.BMC pediatrics · 2018Article
Corrections and comments
- Erratum issuedSau-Wai Ngan, Elly [corrected to Ngan, Elly Sau-Wai]
Authors and funding
10 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hirschsprung disease (HSCR, aganglionic megacolon) is a complex genetic disorder of the enteric nervous system (ENS) characterized by the absence of enteric neurons along a variable length of the intestine. While rare variants (RVs) in the coding sequence (CDS) of several genes involved in ENS development lead to disease, the association of common variants (CVs) with HSCR has only been reported for RET (the major HSCR gene) and NRG1. Importantly, RVs in the CDS of these two genes are also associated with the disorder. To assess independent and joint effects between the different types of RET and NRG1 variants identified in HSCR patients, we used 254 Chinese sporadic HSCR patients and 143 ethnically matched controls for whom the RET and/or NRG1 variants genotypes (rare and common) were available. Four genetic risk factors were defined and interaction effects were modeled using conditional logistic regression analyses and pair-wise Kendall correlations. Our analysis revealed a joint effect of RET CVs with RET RVs, NRG1 CVs or NRG1 RVs. To assess whether the genetic interaction translated into functional interaction, mouse neural crest cells (NCCs; enteric neuron precursors) isolated from embryonic guts were treated with NRG1 (ErbB2 ligand) or/and GDNF (Ret ligand) and monitored during the subsequent neural differentiation process. Nrg1 inhibited the Gdnf-induced neuronal differentiation and Gdnf negatively regulated Nrg1-signaling by down-regulating the expression of its receptor, ErbB2. This preliminary data suggest that the balance neurogenesis/gliogenesis is critical for ENS development.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.