Results 151 to 160 of about 86,878,094 (191)
Some of the next articles are maybe not open access.
2021
Resistance to Thyroid hormone beta (RTH-β) is a genetic syndrome characterized by impaired peripheral sensitivity to thyroid hormone (TH) due to heterozygous dominant-negative variants in the THRB gene, coding for TH receptor beta (TRβ).
Luca Persani, Irene Campi
openaire +1 more source
Resistance to Thyroid hormone beta (RTH-β) is a genetic syndrome characterized by impaired peripheral sensitivity to thyroid hormone (TH) due to heterozygous dominant-negative variants in the THRB gene, coding for TH receptor beta (TRβ).
Luca Persani, Irene Campi
openaire +1 more source
Syndromes of thyroid hormone resistance
Annales d'Endocrinologie, 2005Thyroid hormone resistance (RTH) is a rare autosomal dominant disorder, characterized clinically by goiter and biochemically by elevated circulating free thyroid hormone levels in the presence of measurable serum TSH concentrations. About 85% of patients with RTH are harboring mutations in thyroid hormone receptor beta (TRB). These mutations cluster in
P. Beck-Peccoz, D. Mannavola, L.Persani
openaire +3 more sources
Clinics in Laboratory Medicine, 1993
Resistance to thyroid hormone encompasses a clinically heterogeneous group of conditions characterized by reduced responses of target tissues to a supply of thyroid hormone that under normal circumstances would be excessive. The syndrome of resistance to thyroid hormone is first suspected when serum thyroid hormone levels are found to be elevated in ...
openaire +4 more sources
Resistance to thyroid hormone encompasses a clinically heterogeneous group of conditions characterized by reduced responses of target tissues to a supply of thyroid hormone that under normal circumstances would be excessive. The syndrome of resistance to thyroid hormone is first suspected when serum thyroid hormone levels are found to be elevated in ...
openaire +4 more sources
The Syndromes of Resistance to Thyroid Hormone*
Endocrine Reviews, 1993I. Introduction THE syndromes of resistance to thyroid hormone are characterized by reduced clinical and biochemical manifestations of thyroid hormone action relative to the circulating hormone levels. In practice, most patients are identified by the persistent elevation of serum levels of T4 and T3 with “inappropriately” nonsuppressed TSH, in the ...
S, Refetoff, R E, Weiss, S J, Usala
openaire +2 more sources
Resistance to thyroid hormone in children
Current Opinion in Pediatrics, 1994The genetic etiology of thyroid hormone resistance syndromes is now well established. Two clinical variants, generalized resistance to thyroid hormone (GRTH) and selective pituitary resistance to thyroid hormone (PRTH), are, in most cases, caused by heterozygous mutations in the ligand-binding domain of the c-erbA beta thyroid hormone receptor gene. No
openaire +2 more sources
Resistance to Thyroid Hormone in a Patient with Thyroid Dysgenesis
Thyroid, 2005We report a patient with the unusual coincidence of two rare congenital disorders, lingual ectopy of the thyroid gland and resistance to thyroid hormone (RTH), resulting in impaired thyroid hormone production and action, respectively. The proposita had a positive thyrotropin (TSH) newborn screening test (350 mU/L, confirmed) with normal thyroxine (T4 ...
Helmut, Grasberger +3 more
openaire +2 more sources
Thyroide hormone resistance syndromes
Endocrinología y Nutrición (English Edition), 2011Thyroid hormone resistance syndromes are a group of genetic conditions characterized by decreased tissue sensitivity to thyroid hormones. Three syndromes, in which resistance to hormone action is respectively due to mutations in the gene encoding for thyroid hormone receptor TRβ, impaired T4 and T3 transport, and impaired conversion of T4 to T3 ...
openaire +2 more sources
, 2018 The syndromes of resistance to thyroid hormone (RTH) are generally characterized by reduced tissue responsiveness to thyroid hormone (TH) despite elevated circulating levels of free T3 and/or T4 (Refetoff et al., 1993).
Gisah Amaral de Carvalho +2 more
openaire +2 more sources
Thyroid Hormone Transporters and Resistance
2013Cellular entry is an important step preceding intracellular metabolism and action of thyroid hormone (TH). Transport of TH across the plasma membrane does not take place by simple diffusion but requires transporter proteins. One of the most effective and specific TH transporters identified to date is monocarboxylate transporter 8 (MCT8), the gene of ...
openaire +2 more sources
1999
Thyroid hormones (thyroxine T4, triiodothyronine T3) regulate many cellular func-tions in virtually every type of tissue. The diverse responses to thyroid hormone include regulation of growth, the metabolic rate, muscular activity, and myocardial contractility.
V. Krishna K. Chatterjee +2 more
openaire +1 more source
Thyroid hormones (thyroxine T4, triiodothyronine T3) regulate many cellular func-tions in virtually every type of tissue. The diverse responses to thyroid hormone include regulation of growth, the metabolic rate, muscular activity, and myocardial contractility.
V. Krishna K. Chatterjee +2 more
openaire +1 more source