ArticleJournal of human genetics2006
Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis 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
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- RET gene is a major risk factor for Hirschsprung's disease: a meta-analysis.Pediatric surgery international · 2015Pooled it
- Review
- Mutations in Smad-interacting protein 1 gene are responsible for absence of its expression in Hirschsprung's disease.Clinical and experimental medicine · 2018Article
- 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
- The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.Journal of biosciences · 2014Article
- Correlation between multiple RET mutations and severity of Hirschsprung's disease.Pediatric surgery international · 2013Article
- Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.Molecular biology reports · 2012Article
- Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease.Digestive diseases and sciences · 2011Article
- Development of a fingerprinting panel using medically relevant polymorphisms.BMC medical genomics · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutation and polymorphism data for Hirschsprung disease (HSCR) varies among ethnic groups. Single nucleotide polymorphisms (SNP) of RET proto-oncogene (RET) were recently shown to be associated with the disease, and with disease severity, in different populations. In this study, comprehensive analysis of RET, GDNF, EDNRB, ET-3, and SOX-10 genes among sporadic HSCR in Thailand was conducted by standard PCR-SSCP, RFLP, and sequencing methods. Of 41 patients, 30 cases had rectosigmoid disease (RSD) and 11 cases were assigned to the long-segment disease (LSD) group. Four missense mutations of RET, S100M, R231H, T278N, and G533S, were identified in three patients. One novel missense mutation, V111Q, was detected in EDNRB. For ET-3, two novel missense mutations, D166E and C173R, occurred concomitantly in a patient. The incidence of missense mutation was significantly higher in our female HSCR patient than in the male counterpart. Statistical analysis of the SNPs revealed a significant difference between allele distribution of RET L769L in patients in the LSD and RSD groups. The predominant genotype construct of RET A45A/L769L in our HSCR was GG/GG, which is obviously different from results from all previous studies. The GG/GG genotype construct was associated with RSD and with males. The study also detected a variant allele of RET S836S which has never been reported in Asian cohorts.
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.