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Article

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.

Human molecular genetics - 15 Jan 2005

Garcia-Barcelo Mercè, Ganster Raymond W, Lui Vincent C H, Leon Thomas Y Y, So Man-Ting, Lau Anson M F, Fu Ming, Sham Mai-Har, Knight Joanne, Zannini Maria Stella, Sham Pak C, Tam Paul K H

Abstract excerpt

Single nucleotide polymorphisms (SNPs) of the coding regions of receptor tyrosine kinase gene (RET) are associated with Hirschsprung's disease (HSCR, aganglionic megacolon). These SNPs, individually or combined, may act as a low penetrance susceptibility locus and/or be in linkage disequilibrium...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15548547
DOI: 10.1093/hmg/ddi015

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15548547-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.PMID 15548547Read ↗

RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population.Semantic proximity Read ↗

Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.Semantic proximity Read ↗

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)Semantic proximity Read ↗

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.Semantic proximity Read ↗

Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease.Semantic proximity Read ↗

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.Semantic proximity Read ↗

Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China.Semantic proximity Read ↗

Large-scale replication study identified multiple independent SNPs in RET synergistically associated with Hirschsprung disease in Southern Chinese population.Semantic proximity Read ↗

GT-repeat extension in the IL11 promoter is associated with Hirschsprung's disease (HSCR).Semantic proximity Read ↗

A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.Semantic proximity Read ↗

RET 3'UTR polymorphisms and its protective role in Hirschsprung disease in southeastern Chinese.Semantic proximity Read ↗

RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.Semantic proximity Read ↗

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