[HTML][HTML] Resistance to thyroid hormone beta: a focused review

T Pappa, S Refetoff - Frontiers in endocrinology, 2021 - frontiersin.org
Resistance to thyroid hormone (RTH) is a clinical syndrome defined by impaired sensitivity
to thyroid hormone (TH) and its more common form is caused by mutations in the thyroid …

Human genetics of thyroid hormone receptor beta: resistance to thyroid hormone beta (RTHβ)

T Pappa, S Refetoff - Thyroid hormone nuclear receptor: methods and …, 2018 - Springer
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced
responsiveness of peripheral tissues to thyroid hormone (TH). Affected individuals have …

Resistance to thyroid hormone due to heterozygous mutations in thyroid hormone receptor alpha

ALM van Gucht, C Moran, ME Meima, WE Visser… - Current topics in …, 2017 - Elsevier
Background: Thyroid hormone (TH) acts via nuclear thyroid hormone receptors (TRs). TR
isoforms (TRα1, TRα2, TRβ1, TRβ2) are encoded by distinct genes (THRA and THRB) and …

Syndromes of resistance to thyroid hormone action

L Persani, I Campi - Genetics of Endocrine Diseases and Syndromes, 2019 - Springer
Thyroid hormone (TH) action is crucial for the development of several tissues. A number of
syndromes are associated with reduced responsiveness to thyroid hormones, expanding the …

Update on resistance to thyroid hormone syndromeβ

H Sun, L Cao, R Zheng, S Xie, C Liu - Italian Journal of Pediatrics, 2020 - Springer
Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive
genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene …

Resistance to thyroid hormone: an historical overview

S REFETOFF - Thyroid, 1994 - liebertpub.com
Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced
tissue responsiveness to thyroid hormone. Subjects have elevated serum thyroid hormone …

A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRα and TRβ isoforms

BK Singh, PM Yen - Clinical diabetes and endocrinology, 2017 - Springer
There are two genes that express the major thyroid hormone receptor isoforms. Mutations in
both these genes have given rise to Resistance to Thyroid Hormone (RTH) syndromes …

Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature

AM Ferrara, K Onigata, O Ercan… - The Journal of …, 2012 - academic.oup.com
Context: The most common cause of resistance to thyroid hormone (RTH) is heterozygous
thyroid hormone receptor β (THRB) gene mutations. Homozygous mutations in the THRB …

The thyroid hormone receptor-β gene mutation R383H is associated with isolated central resistance to thyroid hormone

JD Safer, MG O'connor, SD Colan… - The Journal of …, 1999 - academic.oup.com
Resistance to thyroid hormone (RTH) action is due to mutations in theβ-isoform of the thyroid
hormone receptor (TR-β). RTH patients display inappropriate central secretion of TRH from …

An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in …

AT Alberobello, V Congedo, H Liu, C Cochran… - Journal of translational …, 2011 - Springer
Background The syndrome of resistance to thyroid hormone (RTH) is caused by mutations in
the thyroid hormone receptor β gene (THRB). The syndrome varies from asymptomatic to …