Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.

doi:10.1053/j.gastro.2010.10.044

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Article

Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.

Gastroenterology - 1 Feb 2011

Sribudiani Yunia, Metzger Marco, Osinga Jan, Rey Amanda, Burns Alan J, Thapar Nikhil, Hofstra Robert M W

Abstract excerpt

BACKGROUND & AIMS: Two noncoding variations in RET-the T allele of the single nucleotide polymorphism (SNP) rs2435357 (Enh1:C>T) and the A allele of the SNP rs2506004 (Enh2:C>A)-are associated with Hirschsprung's disease. These SNPs are in strong linkage disequilibrium and located in an enhancer...

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Identifiers

PMID: 20977903
DOI: 10.1053/j.gastro.2010.10.044

Genes

RET
ARNT2
SIM2
SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20977903-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.PMID 20977903Read ↗

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