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Article

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

Human molecular genetics - 15 Apr 2010

Miao Xiaoping, Leon Thomas Yuk-Yu, Ngan Elly Sau-Wai, So Man-Ting, Yuan Zheng-Wei, Lui Vincent Chi-Hang, Chen Yan, Wong Kenneth Kak-Yuen, Tam Paul Kwong-Hang, Garcia-Barceló Mercè

Abstract excerpt

Receptor tyrosine kinase (RET) single nucleotide polymorphisms (SNPs) are associated with the Hirschsprung's disease (HSCR). We investigated whether the amount of RET expressed in the ganglionic gut of human was dependent on the genotype of three regulatory SNPs (-5G>A rs10900296 and -1A>C rs10900297 in the promoter, and C>T rs2435357 in intron 1). We examined the effects of three regulatory SNPs on the RET gene...

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Share to Genetic Predisposition to Disease
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Share to Polymorphism, Single Nucleotide
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Source

Identifiers

PMID: 20089534
DOI: 10.1093/hmg/ddq020

Genes

RET

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Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease.PMID 20089534Read ↗

Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease.Semantic proximity Read ↗

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

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

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype.Semantic proximity Read ↗

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

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

Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients.Semantic proximity Read ↗

Molecular mechanisms of RET-induced Hirschsprung pathogenesis.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 ↗

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 ↗

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

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.Semantic proximity Read ↗

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