Results 121 to 130 of about 26,033 (150)

A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate.

Minerva pediatrica, 2011
Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced tissue responsiveness to thyroid hormones. The main defects are due to mutations in thyroid hormone receptor beta (TRbeta). A male, term neonate was admitted because of indirect hyperbilirubinemia and polycythemia. Physical examination revealed ophtalmopathy.
S, Cömert, Y, Akin, A, Vitrinel, B, Telatar, T, Ağikuru, H, Gözü, R, Bircan, S, Turan   +7 more
openaire   +1 more source

Thyrotropin regulation by thyroid hormone in thyroid hormone receptor beta-deficient mice.

Endocrinology, 1997
Thyroid hormone responsive genes can be both positively and negatively regulated by thyroid hormone. TSH is down-regulated by thyroid hormone and rises during thyroid hormone deprivation. Because both thyroid hormone receptor (TR) alpha and beta genes are expressed in the pituitary gland, it is unclear what the relative roles of TR alpha and TR beta ...
R E, Weiss, D, Forrest, J, Pohlenz, K, Cua, T, Curran, S, Refetoff   +5 more
openaire   +1 more source

Identification and Consequences of Polymorphisms in the Thyroid Hormone Receptor Alpha and Beta Genes

Thyroid, 2008
Genetic factors exert considerable influence on thyroid function variables. Single nucleotide polymorphisms (SNPs) in thyroid hormone pathway genes have been associated with serum thyroid parameters implying small alterations in the hypothalamus-pituitary-thyroid axis.
Sorensen, H.G., Deure, W.M. van der, Hansen, P.S., Peeters, R.P., Breteler, M.M.B., Kyvik, K.O., Sørensen, Thorkild I.A., Hegedus, L., Visser, T.J.   +8 more
openaire   +3 more sources

A mutation in thyroid hormone receptor beta causing resistance to thyroid hormone in a neonate

2022
Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced tissue responsiveness to thyroid hormones. The main defects are due to mutations in thyroid hormone receptor beta (TRbeta). A male, term neonate was admitted because of indirect hyperbilirubinemia and polycythemia. Physical examination revealed ophtalmopathy.
openaire   +1 more source

A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone

Human Mutation, 2000
Y Y, van der Hoek, M W, Mul-Steinbusch, P H, Slee   +2 more
openaire   +2 more sources

Selective thyroid hormone receptor beta agonist, GC-1, is capable to reduce growth of colorectal tumor in syngeneic mouse models

Journal of Receptor and Signal Transduction Research, 2022
Ghazaleh Shimi, Hamid Zand, Arman Ghorbani   +2 more
exaly  

3 NEW MUTATIONS OF THYROID-HORMONE RECEPTOR-BETA ASSOCIATED WITH RESISTANCE TO THYROID-HORMONE

1994
Three novel point mutations at nucleotides 1249, 1282, and 1614 (exons 9 and 10) of the human thyroid hormone receptor-beta gene were observed in six individuals affected by the syndrome of resistance to thyroid hormone. All three mutations occurred in a heterozygous pattern and caused the following changes in the mature form of the receptor protein ...
BARTOLONE, LUIGI, REGALBUTO C, BENVENGA, Salvatore, FILETTI S, TRIMARCHI, Francesco, PONTECORVI A.   +5 more
openaire   +1 more source

Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta

Thyroid, 2021
Eveline Bruinstroop, Paul M Yen, Samuel Refetoff   +2 more
exaly  

Thyroid Hormone Disruption by Organophosphate Esters Is Mediated by Nuclear/Membrane Thyroid Hormone Receptors: In Vitro, In Vivo, and In Silico Studies

Environmental Science & Technology, 2022
Na Li, Yuanzheng Zhai, Haiyang Chen
exaly  

Resistance to thyroid hormone receptor-beta: diagnostic pitfalls

Endocrine Abstracts, 2021
Ahtisham Ali Khan, Sam Westal, Sumudu Bujawansa, Heather Sullivan, Abidullah Khan, Prakash Narayanan, Sid McNulty   +6 more
openaire   +1 more source