ReviewWorld journal of gastroenterology2011
Genetic interactions and modifier genes in Hirschsprung's disease.
Review in World journal of gastroenterology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
What it found
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Hirschsprung's disease in twins: a systematic review and meta-analysis.Pediatric surgery international · 2017Pooled it
- RET gene is a major risk factor for Hirschsprung's disease: a meta-analysis.Pediatric surgery international · 2015Pooled it
- MicroRNA regulation of enteric nervous system development and disease.Trends in neurosciences · 2025Review
- Dscam1 overexpression impairs the function of the gut nervous system in Drosophila.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Association of rs2435357 and rs2506030 polymorphisms inFrontiers in pediatrics · 2022Review
- Onco-ontogeny recapitulates phylogeny - a consideration.Oncogene · 2021Article
- A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.PLoS genetics · 2020Article
- MicroRNA-4516-mediated regulation ofJournal of medical genetics · 2020Article
- Association of Variants inFrontiers in genetics · 2020Article
- Efficacy of Sox10 Promoter Methylation in the Diagnosis of Intestinal Neuronal Dysplasia From the Peripheral Blood.Clinical and translational gastroenterology · 2019Article
- Gfra1 Underexpression Causes Hirschsprung's Disease and Associated Enterocolitis in Mice.Cellular and molecular gastroenterology and hepatology · 2019Article
- The advances of genetics research on Hirschsprung's disease.Pediatric investigation · 2018Review
- Discovery of a First-in-Class Gut-Restricted RET Kinase Inhibitor as a Clinical Candidate for the Treatment of IBS.ACS medicinal chemistry letters · 2018Article
- Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease.Journal of cellular and molecular medicine · 2018Article
- Long non-coding RNA LOC100507600 functions as a competitive endogenous RNA to regulate BMI1 expression by sponging miR128-1-3p in Hirschsprung's disease.Cell cycle (Georgetown, Tex.) · 2018Article
- Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report.BMC nephrology · 2016Article
- Ibuprofen slows migration and inhibits bowel colonization by enteric nervous system precursors in zebrafish, chick and mouse.Developmental biology · 2016Article
- Downregulated Expression of Long Non-Coding RNA LOC101926975 Impairs both Cell Proliferation and Cell Cycle and Its Clinical Implication in Hirschsprung Disease Patients.International journal of medical sciences · 2016Article
- Contrasting genetic architectures in different mouse reference populations used for studying complex traits.Genome research · 2015Review
- A chicken model of pharmacologically-induced Hirschsprung disease reveals an unexpected role of glucocorticoids in enteric aganglionosis.Biology open · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype is associated with mutations in multiple distinct genes. Furthermore, the genetics of Hirschsprung's disease are highly complex and not strictly Mendelian. The phenotypic variability and incomplete penetrance observed in Hirschsprung's disease also suggests the involvement of modifier genes. Here, we summarise the current knowledge of the genetics underlying Hirschsprung's disease based on human and animal studies, focusing on the principal causative genes, their interactions, and the role of modifier genes.
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Registered trials
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.