Searchable abstracts of presentations at key conferences in endocrinology

ea0002sp1 | European Medal Lecture | SFE2001

Phenotype of mice harboring a thyroid hormone receptor alpha 1 gene with transdominant negative properties

Vennstrom B , Tinnikov A , Adams M , Thoren P , Kindblom J , Malin S , Rozell B , Pettersson S , Ohlsson C , Chatterjee K

Patients with the syndrome Resistance to Thyroid Hormone (RTH) exhibit purturbances in regulation of serum thyroxine and often suffer from hypermetabolism, tachycardia, hyperactivity and mental retardation. Most of these patients express a mutant thyroid hormone receptor beta (TRb) unable to bind ligand, resulting in transdominant negative effects in transcription. As no patient with a mutant TRa has been identified, we introduced into the mouse TRa1 gene a point mutation foun...