Article
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
International journal of molecular sciences - 19 May 2021
Paisdzior Sarah, Knierim Ellen, Kleinau Gunnar, Biebermann Heike, Krude Heiko, Straussberg Rachel, Schuelke Markus
Abstract excerpt
The nuclear thyroid hormone receptors (THRs) are key mediators of thyroid hormone function on the cellular level via modulation of gene expression. Two different genes encode THRs (THRA and THRB), and are pleiotropically involved in development, metabolism, and growth. The THRA1 and THRA2 isoforms, which result from alternative splicing of THRA, differ in their C-terminal ligand-binding domain (LBD). Most...
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