Article
Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
The Journal of clinical investigation - 1 Nov 2014
French Curtis R, Seshadri Sudha, Destefano Anita L, Fornage Myriam, Arnold Corey R, Gage Philip J, Skarie Jonathan M, Dobyns William B, Millen Kathleen J, Liu Ting, Dietz William, Kume Tsutomu, Hofker Marten, Emery Derek J, Childs Sarah J, Waskiewicz Andrew J, Lehmann Ordan J
Abstract excerpt
Patients with cerebral small-vessel disease (CSVD) exhibit perturbed end-artery function and have an increased risk for stroke and age-related cognitive decline. Here, we used targeted genome-wide association (GWA) analysis and defined a CSVD locus adjacent to the forkhead transcription factor FOXC1. Moreover, we determined that the linked SNPs influence FOXC1 transcript levels and demonstrated that patients as...
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