ArticleHuman molecular genetics2019
A gene regulatory network explains RET-EDNRB epistasis in Hirschsprung disease.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 39 citations in OpenAlex.
- BxbI-mediated insertion of a 77kb human RET sensitive haplotype into the mouse genome to generate a humanized model of Hirschsprung disease.bioRxiv : the preprint server for biology · 2026Article
- Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome.Journal of medical genetics · 2026Article
- Article
- Aberrant Expressions ofCurrent pediatric reviews · 2026Article
- Joint disruption ofProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants.American journal of human genetics · 2025Article
- Spatiotemporal dynamics of the developing zebrafish enteric nervous system at the whole-organ level.Developmental cell · 2025Article
- The Role ofmedRxiv : the preprint server for health sciences · 2025Article
- Variability in proliferative and migratory defects in Hirschsprung disease-associatedbioRxiv : the preprint server for biology · 2024Article
- Aberrant SOX10 and RET expressions in patients with Hirschsprung disease.BMC pediatrics · 2024Article
- Endothelin signaling in development.Development (Cambridge, England) · 2023Review
- RET enhancer haplotype-dependent remodeling of the human fetal gut development program.PLoS genetics · 2023Article
- Hirschsprung disease.Nature reviews. Disease primers · 2023Review
- Suppression of PGE2/EP2 signaling alleviates Hirschsprung disease by upregulating p38 mitogen-activated protein kinase activity.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Article
- A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism.Cellular and molecular gastroenterology and hepatology · 2023Article
- Single_cell_GRN: gene regulatory network identification based on supervised learning method and Single-cell RNA-seq data.BioData mining · 2022Article
- Association betweenTranslational pediatrics · 2022Article
- Play the plug: How bacteria modify recognition by host receptors?Frontiers in microbiology · 2022Article
- Susceptibility ofFrontiers in pediatrics · 2022Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Disruptions in gene regulatory networks (GRNs), driven by multiple deleterious variants, potentially underlie complex traits and diseases. Hirschsprung disease (HSCR), a multifactorial disorder of enteric nervous system (ENS) development, is associated with at least 24 genes and seven chromosomal loci, with RET and EDNRB as its major genes. We previously demonstrated that RET transcription in the ENS is controlled by an extensive GRN involving the transcription factors (TFs) RARB, GATA2 and SOX10 and other HSCR genes. We now demonstrate, using human and mouse cellular and animal models, that EDNRB is transcriptionally regulated in the ENS by GATA2, SOX10 and NKX2.5 TFs. Significantly, RET and EDNRB expression is regulated by their shared use of GATA2 and SOX10, and in turn, these TFs are controlled by EDNRB and RET in a dose-dependent manner. This study expands the ENS development GRN to include both RET and EDNRB, uncovers the mechanistic basis for RET-EDNRB epistasis and emphasizes how functionally different genes associated with a complex disorder can be united through a common GRN.
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