Article
Evaluation of the NK2 homeobox 1 gene (NKX2-1) as a Hirschsprung's disease locus.
Annals of human genetics - 1 Mar 2008
Garcia-Barceló M-M, Lau D K, Ngan E S, Leon T Y, Liu T, So M, Miao X, Lui V C, Wong K K, Ganster R W, Cass D T, Croaker G D H, Tam P K
Abstract excerpt
Hirschsprung's disease (HSCR, colonic aganglionosis) is an oligogenic entity that usually requires mutations in RET and other interacting loci. Decreased levels of RET expression may lead to the manifestation of HSCR. We previously showed that RET transcription was decreased due to alteration of the NKX2-1 binding site by two HSCR-associated RET promoter single nucleotide polymorphisms (SNPs). This prompted us to...
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