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- W2116764730 abstract "Clinical expression of Hirschsprung disease (HSCR) requires the interaction of multiple susceptibility genes. Molecular genetic analyses have revealed that interactions between mutations in the genes encoding the RET receptor tyrosine kinase and the endothelin receptor type B (EDNRB) are central to the genesis of HSCR. We have established two locus noncomplementation assays in mice, using allelic series at Ednrb in the context of Ret kinase-null heterozygotes, to understand the clinical presentation, incomplete penetrance, variation in length of aganglionic segment, and sex bias observed in human HSCR patients. Titration of Ednrb in the presence of half the genetic dose of Ret determines the presentation of an enteric phenotype in these strains, revealing or abrogating a sex bias in disease expression depending on the genotype at Ednrb. RET and EDNRB signaling pathways are also critical for the normal development of other tissues, including the kidneys and neural crest-derived melanocytes. Our data demonstrate that interaction between these genes is restricted to the enteric nervous system and does not affect renal, coat color, and retinal choroid development." @default.
- W2116764730 created "2016-06-24" @default.
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- W2116764730 date "2003-02-06" @default.
- W2116764730 modified "2023-09-26" @default.
- W2116764730 title "Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between <i>Ret</i> and <i>Ednrb</i>" @default.
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- W2116764730 doi "https://doi.org/10.1073/pnas.0337540100" @default.
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