Thyroid hormones act via nuclear receptors (TR alpha 1, TR beta 1, TR beta 2) with differing tissue distribution; the role of alpha 2 protein, derived from the same gene locus as TR alpha 1, is unclear. Resistance to thyroid hormone alpha (RTH alpha) is characterised by tissue-specific ...
Mutations in thyroid hormone receptor α1 (TRα1) cause Resistance to Thyroid Hormone α (RTHα), a disorder characterized by hypothyroidism in TRα1-expressing tissues including the heart. Surprisingly, we report that treatment of RTHα patients with thyroxine to overcome tissue hormone resistance...
The mode of inheritance appears to be autosomal dominant in the majority of families. It has long been suspected that RTH is most likely caused by an abnormal thyroid hormone receptor (TR), but this hypothesis could not be directly tested until the isolation of two TR genes, TR alpha and ...
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective c... et al.Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes ...
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 or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) is char...
Francois Lallemend1 & Saїda Hadjab1 Hypothyroidism due to THRA1 (gene coding for thyroid hormone receptor α1) mutation-mediated Resistance to Thyroid Hormone (RTH) has been recently reported in human and is associated with memory deficits similar to those found in a mouse model for Thr...
replacement therapy with appropriate doses of exogenous thyroid hormone is needed. With the earlier recognition of resistance to thyroid hormone due tonewbornscreening, the issue of whether children with resistance to thyroid hormone should be treated prenatally or during infancy has been ra...
Resistance to thyroid hormone due to heterozygous mutations in thyroid hormone receptor alpha 10.1016/bs.ctdb.2017.02.001 Google Scholar Vasques et al., 2013 G.A. Vasques, N. Amano, A.J. Docko, M.F. Funari, E.P. Quedas, M.Y. Nishi, I.J. Arnhold, T. Hasegawa, A.A. Jorge ...
As well as mediating de novo hormone resistance, growth factor signalling appears to play key roles in the development of acquired resistance also. Resistance to hormone therapy in breast cancer After the initial insult to the body, CFS/WTS symptoms remain, perhaps due to thyroid hormone resistance...
The lack of interaction with coactivators appears to be an additional mechanism for the dominant negative effects of mutant TR on the transcriptional activity of the normal receptor. 展开 关键词: thyroid hormone receptor (TR) gene mutations thyrotropin (TSH) secretion alpha and beta subunits of TSH...