A case of thyroid hormone resistance: a rare mutation.
Lisbon, Portugal. In Arq Bras Endocrinol Metabol, Dec 2014
Peripheral blood DNA was extracted from the patient and a mutation was found localized in cluster one, at codon 346 of the ligand binding domain of the THRB gene.
Connecting cis-elements and trans-factors with mechanisms of developmental regulation of mRNA translation in meiotic and haploid mammalian spermatogenic cells.
Boston, United States. In Reproduction, 2013
As a result, the mechanisms involving well-studied mRNAs (Ddx4/Mvh, Prm1, Prm2, and Sycp3) and factors (DICER1, CPEB1, DAZL, DDX4/MVH, DDX25/GRTH, translin, and ELAV1/HuR) are incompletely understood.
Thyroid hormone receptors in health and disease.
Amsterdam, Netherlands. In Minerva Endocrinol, 2012
Mutations in both the THRA and THRB gene have been described, each inducing a characteristic phenotype clearly showing the selective effect of an excess or shortage of thyroid hormone in specific TRα and TRβ regulated organs.