ArticleThe American journal of pathology2006
The Ret(C620R) mutation affects renal and enteric development in a mouse model of Hirschsprung's disease.
Article in The American journal of pathology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.Pediatric surgery international · 2014Pooled it
- Article
- Thyroid C-Cell Biology and Oncogenic Transformation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.Pediatric surgery international · 2024Article
- A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism.Cellular and molecular gastroenterology and hepatology · 2023Article
- TheAIMS neuroscience · 2022Review
- The Polycomb group geneFrontiers in neuroscience · 2022Article
- Kidney malformations and Hirschsprung's disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene.Endocrine · 2021Article
- The NOTCH Ligand JAG1 Regulates GDNF Expression in Sertoli Cells.Stem cells and development · 2017Article
- Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease).Pediatric surgery international · 2017Review
- Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players.Developmental biology · 2016Review
- Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.Gastroenterology · 2015Article
- Thyroid C-Cell Biology and Oncogenic Transformation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2015Review
- Balancing on the crest - Evidence for disruption of the enteric ganglia via inappropriate lineage segregation and consequences for gastrointestinal function.Developmental biology · 2013Review
- Enteric nervous system development: migration, differentiation, and disease.American journal of physiology. Gastrointestinal and liver physiology · 2013Review
- The developmental etiology and pathogenesis of Hirschsprung disease.Translational research : the journal of laboratory and clinical medicine · 2013Review
- RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.Clinics (Sao Paulo, Brazil) · 2012Review
- Genetic interactions and modifier genes in Hirschsprung's disease.World journal of gastroenterology · 2011Review
- Derivation of neural crest cells from human pluripotent stem cells.Nature protocols · 2010Article
- Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's disease.Neurogastroenterology and motility · 2009Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
In rare families RET tyrosine kinase receptor substitutions located in exon 10 (especially at positions 609, 618, and 620) can concomitantly cause the MEN 2A (multiple endocrine neoplasia type 2A) or FMTC (familial medullary thyroid carcinoma) cancer syndromes, and Hirschsprung's disease (HSCR). No animal model mimicking the co-existence of the MEN 2 pathology and HSCR is available, and the association of these activating mutations with a developmental defect still represents an unresolved problem. The aim of this work was to investigate the significance of the RET(C620R) substitution in the pathogenesis of both gain- and loss-of-function RET-associated diseases. We report the generation of a line of mice carrying the C620R mutation in the Ret gene. Although Ret(C620R) homozygotes display severe defects in kidney organogenesis and enteric nervous system development leading to perinatal lethality. Ret(C620R) heterozygotes recapitulate features characteristic of HSCR including hypoganglionosis of the gastrointestinal tract. Surprisingly, heterozygotes do not show any defects in the thyroid that might be attributable to a gain-of-function mutation. The Ret(C620R) allele is responsible for HSCR and affects the development of kidneys and the enteric nervous system (ENS). These mice represent an interesting model for studying new therapeutic approaches for the treatment of HSCR disease.
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