Associated Papers
Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.
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Biological & Pharmaceutical Bulletin, 2025
Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy.
Liu Z et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2020
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
Ramos LS et al.
Endocrine, 2018
SNP mutations occurring in thyroid hormone receptor influenced individual susceptibility to triiodothyronine: Molecular dynamics and site-directed mutagenesis approaches.
Liu Y et al.
Journal of Cellular Biochemistry, 2018
Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.
Kim JY et al.
The Korean Journal of Internal Medicine, 2008
A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.
Chao SC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003
In vitro effect of Triac on resistance to thyroid hormone receptor mutants: potential basis for therapy.
Messier N et al.
Molecular and Cellular Endocrinology, 2001
Isoform variable action among thyroid hormone receptor mutants provides insight into pituitary resistance to thyroid hormone.
Safer JD et al.
Molecular Endocrinology (baltimore, Md.), 1997
Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.
Adams M et al.
The Journal of Clinical Investigation, 1994
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