ReviewPediatric surgery international2009
Genetic basis of Hirschsprung's disease.
Review in Pediatric surgery international, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 5 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
46 citing papers in PubMed, 5 syntheses or guidelines pooled it, 127 citations in OpenAlex.
- Probiotics for the prevention of Hirschsprung-associated enterocolitis.The Cochrane database of systematic reviews · 2022Pooled it
- Hirschsprung's disease in twins: a systematic review and meta-analysis.Pediatric surgery international · 2017Pooled it
- Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.Human molecular genetics · 2016Pooled it
- Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.Pediatric surgery international · 2015Pooled it
- Prevalence of Hirschsprung's disease in premature infants: a systematic review.Pediatric surgery international · 2014Pooled it
- Swenson-like pull-through for treatment of the rare association between Hirschsprung's disease and anorectal malformation.BMC pediatrics · 2025Article
- Surgical and clinical determinants of postoperative Hirschsprung-associated enterocolitis: Multivariate analysis in a large cohort.Pediatric discovery · 2024Article
- Hirschsprung disease.Nature reviews. Disease primers · 2023Review
- A New Transgenic Tool to Study the Ret Signaling Pathway in the Enteric Nervous System.International journal of molecular sciences · 2022Article
- Enteric nervous system modulation of luminal pH modifies the microbial environment to promote intestinal health.PLoS pathogens · 2022Article
- Identification and validation of the common pathogenesis and hub biomarkers in Hirschsprung disease complicated with Crohn's disease.Frontiers in immunology · 2022Article
- Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease.International journal of molecular sciences · 2021Review
- The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.Frontiers in pediatrics · 2021Review
- Safety and Accuracy of Suction Rectal Biopsy in Preterm Infants.Frontiers in pediatrics · 2021Article
- Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease.Genome research · 2020Article
- Expression of BMP-4 and Smad1 in patients with Hirschsprung disease and its clinical significance.Experimental and therapeutic medicine · 2019Article
- Congenital intestinal stenosis and Hirschsprung's disease: two extremely rare pathologies in a newborn puppy.BMC veterinary research · 2019Article
- NRG1 variant effects in patients with Hirschsprung disease.BMC pediatrics · 2018Article
- The advances of genetics research on Hirschsprung's disease.Pediatric investigation · 2018Review
- Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease.Journal of cellular and molecular medicine · 2018Article
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 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. HSCR is a complex disease that results from the interaction of several genes and manifests with low, sex-dependent penetrance and variability in the length of the aganglionic segment. The genetic complexity observed in HSCR can be conceptually understood in light of the molecular and cellular events that take place during the ENS development. DNA alterations in any of the genes involved in the ENS development may interfere with the colonization process, and represent a primary etiology for HSCR. This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease.
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.