ArticleWorld journal of gastroenterology2003
Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease.
Article in World journal of gastroenterology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 11 citations in OpenAlex.
- miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children.Bioscience reports · 2020Article
- Molecular cloning and characterization of the endothelin 3 gene in black bone sheep.Journal of animal science and biotechnology · 2018Article
- Identifying key genes associated with Hirschsprung's disease based on bioinformatics analysis of RNA-sequencing data.World journal of pediatrics : WJP · 2017Article
- Waardenburg Syndrome Expression and Penetrance.Journal of rare diseases research & treatment · 2017Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo investigate the mutation of EDNRB gene and EDN-3 gene in sporadic Hirschsprung's disease (HD) in Chinese population.
methodsGenomic DNA was extracted from bowel tissues of 34 unrelated HD patients which were removed by surgery. Exon 3, 4, 6 of EDNRB gene and Exon 1, 2 of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP).
resultsEDNRB mutations were detected in 2 of the 13 short-segment HD. One mutant was in the exon 3, the other was in the exon 6. EDN-3 mutation was detected in one of the 13 short-segment HD and in the exon 2. Both EDNRB and EDN-3 mutations were detected in one short-segment HD. No mutations were detected in the ordinary or long-segment HD.
conclusionThe mutations of EDNRB gene and EDN-3 gene are found in the short-segment HD of sporadic Hirschsprung's disease in Chinese population, which suggests that the EDNRB gene and EDN-3 gene play important roles in the pathogenesis of HD.
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