ArticleCellular and molecular gastroenterology and hepatology2023
A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism.
Article in Cellular and molecular gastroenterology and hepatology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Neurotrophin-3 rs1805149A>G variant in Hirschsprung disease: An investigative study.World journal of gastrointestinal surgery · 2026Trial
- Article
- Pcgf1 gene disruption reveals primary involvement of epigenetic mechanism in neuronal subtype specification in the enteric nervous system.Development, growth & differentiation · 2023Article
- Mice Are Not Small Furry People! A New Hirschsprung Disease Model Lets Us Pretend This Is Not True.Cellular and molecular gastroenterology and hepatology · 2023Article
- Pathogenicity of p.Phe147del in RET in familial Hirschsprung's disease.American journal of translational research · 2023Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND &
aimsHirschsprung disease (HSCR) is a congenital disorder characterized by the absence of the enteric nervous system (ENS). HSCR potentially involves multiple gene aberrations and displays complex patterns of inheritance. Mutations of the RET gene, encoding the RET receptor tyrosine kinase, play a central role in the pathogenesis of HSCR. Although a wide variety of coding RET mutations have been identified, their pathogenetic significance in vivo has remained largely unclear.
methodsWe introduced a HSCR-associated RET missense mutation, RET(S811F), into the corresponding region (S812) of the mouse Ret gene. Pathogenetic impact of Ret(S812F) was assessed by histologic and functional analyses of the ENS and by biochemical analyses. Interactions of the Ret(S812F) allele with HSCR susceptibility genes, the RET9 allele and the Ednrb gene, were examined by genetic crossing in mice.
resultsRet
conclusionsThis study demonstrates that a single RET missense mutation alone induces intestinal aganglionosis via a dominant-negative mechanism. The Ret
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Registered trials
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