Article
Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2.
Molecular endocrinology (Baltimore, Md.) - 1 Jul 2007
Johnson Kenneth R, Marden Coleen C, Ward-Bailey Patricia, Gagnon Leona H, Bronson Roderick T, Donahue Leah Rae
Abstract excerpt
Dual oxidases generate the hydrogen peroxide needed by thyroid peroxidase for the incorporation of iodine into thyroglobulin, an essential step in thyroid hormone synthesis. Mutations in the human dual oxidase 2 gene, DUOX2, have been shown to underlie several cases of congenital hypothyroidism. We report here the first mouse Duox2 mutation, which provides a new genetic model for studying the specific function of...
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