ArticleGut2001
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.
Article in Gut, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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
23 citing papers in PubMed, 80 citations in OpenAlex.
- A novel mouse model of intestinal neuronal dysplasia: visualization of the enteric nervous system.Pediatric surgery international · 2023Article
- Pathogenic roles of microRNAs and competing endogenous RNAs in Hirschsprung disease (HSCR): Potential diagnostic markers for HSCR.Pediatric discovery · 2023Review
- Association betweenTranslational pediatrics · 2022Article
- TheAIMS neuroscience · 2022Review
- Identification of novel biomarkers of prostate cancer through integrated analysis.Translational andrology and urology · 2021Article
- Associations between common genetic variants in microRNAs and Hirschsprung disease susceptibility in Southern Chinese children.The journal of gene medicine · 2021Article
- Identification of potential molecular pathogenesis mechanisms modulated by microRNAs in patients with Intestinal Neuronal Dysplasia type B.Scientific reports · 2019Article
- Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease).Pediatric surgery international · 2017Review
- Intestinal neuronal dysplasia type B: A still little known diagnosis for organic causes of intestinal chronic constipation.World journal of gastrointestinal pharmacology and therapeutics · 2016Review
- Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.European journal of human genetics : EJHG · 2016Article
- RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.European journal of human genetics : EJHG · 2016Article
- Differential expression of FOXA1, DUSP6, and HA117 in colon segments of Hirschsprung's disease.International journal of clinical and experimental pathology · 2015Article
- Classification and diagnostic criteria of variants of Hirschsprung's disease.Pediatric surgery international · 2013Review
- Regulation of blood pressure and salt homeostasis by endothelin.Physiological reviews · 2011Review
- A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients.Experimental and therapeutic medicine · 2010Article
- Genetic basis of Hirschsprung's disease.Pediatric surgery international · 2009Review
- [Intestinal neuronal dysplasia type B: how do we understand it today?].Der Pathologe · 2007Article
- Mutation of RET proto-oncogene in Hirschsprung's disease and intestinal neuronal dysplasia.World journal of gastroenterology · 2006Article
- Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.World journal of gastroenterology · 2005Article
- Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan.Journal of human genetics · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 4 countries.
Funding
Abstract
backgroundHirschsprung disease (HSCR) is a frequent congenital disorder with an incidence of 1 in 5000 live births, characterised by the absence of parasympathetic intramural ganglion cells in the hindgut resulting in intestinal obstruction in neonates and severe constipation in infants and adults. Intestinal neuronal dysplasia (IND) shares clinical features with HSCR but the submucosal parasympathetic plexus is affected. IND has been proposed as one of the most frequent causes of chronic constipation and is often associated with HSCR.
methodsWe examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of the RET, GDNF, EDNRB, and EDN3 genes. The entire coding regions were analysed by single strand conformational polymorphism and DNA sequencing.
resultsOnly three RET mutations were detected in patients with HSCR. In patients with IND or a mixed HSCR/IND phenotype, no mutations in these genes were observed. While HSCR and HSCR/IND showed over representation of a specific RET polymorphism in exon 2, IND exhibited a significantly lower frequency comparable with that of controls.
conclusionsThe mutation frequency found in our sporadic HSCR patients (10%) and the allelic distribution of RET polymorphisms are comparable with earlier published data. A significantly different allelic distribution in an established HSCR associated polymorphism argues against common genetic pathways for HSCR and IND.
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.