Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.H435R
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THRB

NM_001354712.2:p.H435R

Associated Papers

A Novel THRβ Variant in a Child With Resistance to Thyroid Hormone β: Diagnostic and Therapeutic Challenges.

Gürpınar G et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Discovery of a Potent, Selective, and Multiple His435 Mutation-Sensitive Thyroid Hormone Receptor β Agonist.

Li Q et al.

Journal of Medicinal Chemistry, 2025

Structural Insights Into Thyroid Hormone Receptors.

Tambones I et al.

Endocrinology, 2024

Resistance to Thyroid Hormone Beta Due to THRB Mutation in a Patient Misdiagnosed With TSH-Secreting Pituitary Adenoma.

Liao W et al.

Jcem Case Reports, 2024

Discovery of a Highly Selective and H435R-Sensitive Thyroid Hormone Receptor β Agonist.

Li Q et al.

Journal of Medicinal Chemistry, 2022

Thyroid hormone resistance from newborns to adults: a Spanish experience.

Vela A et al.

Journal of Endocrinological Investigation, 2019

Thyroid hormone receptors and cancer.

Kim WG et al.

Biochimica Et Biophysica Acta, 2013

Somatic mutation of TRbeta can cause a defect in negative regulation of TSH in a TSH-secreting pituitary tumor.

Ando S et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

Amino acid substitutions of thyroid hormone receptor-beta at codon 435 with resistance to thyroid hormone selectively alter homodimer formation.

Nomura Y et al.

Endocrinology, 1996

Coexistence of Resistance to Thyroid Hormone and a Thyroid Stimulating Hormone-Secreting Pituitary Adenoma.

Koo TH et al.

Aace Endocrinology and Diabetes, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."