ReviewTranslational research : the journal of laboratory and clinical medicine2013
The developmental etiology and pathogenesis of Hirschsprung disease.
Review in Translational research : the journal of laboratory and clinical medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
120 citing papers in PubMed, 2 syntheses or guidelines pooled it, 280 citations in OpenAlex.
- Outcomes of robotic-assisted soave pull-through procedure for Hirschsprung disease: a systematic review and meta-analysis.Journal of robotic surgery · 2026Pooled it
- ASSOCIATION OF RS2435357 AND RS1800858 POLYMORPHISMS IN RET PROTO-ONCOGENE WITH HIRSCHSPRUNG DISEASE: SYSTEMATIC REVIEW AND META-ANALYSIS.Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery · 2019Pooled it
- Macrophage-enteric nervous system crosstalk in Hirschsprung disease and associated enterocolitis: a focused narrative review with clinical implications.Pediatric surgery international · 2026Review
- Optimized chemogenetic ablation and regeneration of enteric nervous system neurons in zebrafish.Stem cell reports · 2026Article
- Multiple Sclerosis in a Person With Hirschprung's Disease: A Case Report.Clinical case reports · 2026Article
- Intra-operative application of ultra-high frequency ultrasound facilitates differentiation of bowel wall characteristics between ganglionic and aganglionic segments during transanal endorectal pull-through for Hirschsprung disease.Communications medicine · 2026Article
- Contrast enema in Hirschsprung disease: radiological signs and clinical symptoms as predictors in a logistic regression model.Pediatric radiology · 2026Article
- Retinol dehydrogenase 10-mediated retinoic acid signaling regulates the neural crest cell microenvironment during enteric nervous system formation.Human molecular genetics · 2026Article
- Management of Chronic Myeloid Leukemia During Pregnancy: Review of Evidence and Treatment Algorithm.Clinical lymphoma, myeloma & leukemia · 2026Review
- CRISPR/Cas9-mediatedFrontiers in physiology · 2026Article
- Extracellular vesicle-mediated transfer of MIR22HG inhibits the colonization of enteric neural crest cells in the colon by decreasing MPP3 expression.Communications biology · 2025Article
- Plasma-derived exosomal miR-34a-5p: a potential diagnostic biomarker for total colonic aganglionosis.Translational pediatrics · 2025Article
- Does the absence of hypertrophic nerves on rectal biopsy predict long-segment or total colonic aganglionosis?Pediatric surgery international · 2025Article
- Magnesium ions regulate the Warburg effect to promote the differentiation of enteric neural crest cells into neurons.Stem cell research & therapy · 2025Article
- Early Outcomes of Hirschsprung's Disease after Definitive Surgery: A Ten-year Experience.Current pediatric reviews · 2025Article
- Ultrashort segment adult Hirschsprung disease: A case report of periodic abdominal distension and constipation spanning for more than 20 years.Radiology case reports · 2024Article
- Hirschsprung's disease: m6A methylase VIRMA suppresses cell migration and proliferation by regulating GSK3β.Pediatric research · 2024Article
- Hirschsprung's disease: m6A methylase VIRMA suppresses cell migration and proliferation by regulating GSK3β.Pediatric research · 2024Article
- Article
- Minimally Invasive Surgery for Hirschsprung Disease: Current Practices and Future Directions.Cureus · 2024Review
60 more citing papers are in PubMed but not listed here.
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 2 institutions in 1 country.
Funding
Abstract
The enteric nervous system is the part of the autonomic nervous system that directly controls the gastrointestinal tract. Derived from a multipotent, migratory cell population called the neural crest, a complete enteric nervous system is necessary for proper gut function. Disorders that arise as a consequence of defective neural crest cell development are termed neurocristopathies. One such disorder is Hirschsprung disease (HSCR), also known as congenital megacolon or intestinal aganglionosis. HSCR occurs in 1/5000 live births and typically presents with the inability to pass meconium, along with abdominal distension and discomfort that usually requires surgical resection of the aganglionic bowel. This disorder is characterized by a congenital absence of neurons in a portion of the intestinal tract, usually the distal colon, because of a disruption of normal neural crest cell migration, proliferation, differentiation, survival, and/or apoptosis. The inheritance of HSCR disease is complex, often non-Mendelian, and characterized by variable penetrance. Extensive research has identified a number of key genes that regulate neural crest cell development in the pathogenesis of HSCR including RET, GDNF, GFRα1, NRTN, EDNRB, ET3, ZFHX1B, PHOX2b, SOX10, and SHH. However, mutations in these genes account for only ∼50% of the known cases of HSCR. Thus, other genetic mutations and combinations of genetic mutations and modifiers likely contribute to the etiology and pathogenesis of HSCR. The aims of this review are to summarize the HSCR phenotype, diagnosis, and treatment options; to discuss the major genetic causes and the mechanisms by which they disrupt normal enteric neural crest cell development; and to explore new pathways that may contribute to HSCR pathogenesis.
Indexed as
Identifiers
What OpenQuestion holds
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.