[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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
the thyroid hormone receptor β gene (THRB). The syndrome varies from asymptomatic to …