Article
A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1.
Human molecular genetics - 15 Jul 2015
Lidral Andrew C, Liu Huan, Bullard Steven A, Bonde Greg, Machida Junichiro, Visel Axel, Uribe Lina M Moreno, Li Xiao, Amendt Brad, Cornell Robert A
Abstract excerpt
Three common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thyroid cancer all map to the FOXE1 locus, but causative variants have yet to be identified. In patients with CLP, the frequency of coding mutations in FOXE1 fails to account for the risk attributable to this locus, suggesting that the common risk alleles reside in nearby regulatory elements. Using a combination of zebrafish and...
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