Article
Defective erythropoiesis caused by mutations of the thyroid hormone receptor α gene.
PLoS genetics - 1 Sept 2017
Park Sunmi, Han Cho Rong, Park Jeong Won, Zhao Li, Zhu Xuguang, Willingham Mark, Bodine David M, Cheng Sheue-Yann
Abstract excerpt
Patients with mutations of the THRA gene exhibit classical features of hypothyroidism, including erythroid disorders. We previously created a mutant mouse expressing a mutated TRα1 (denoted as PV; Thra1PV/+ mouse) that faithfully reproduces the classical hypothyroidism seen in patients. Using Thra1PV/+ mice, we explored how the TRα1PV mutant acted to cause abnormalities in erythropoiesis. Thra1PV/+ mice exhibited...
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