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One or more keywords matched the following items that are connected to Refetoff, Samuel
Item TypeName
Concept DNA Transposable Elements
Concept DNA, Antisense
Concept Alu Elements
Concept Response Elements
Concept Enhancer Elements, Genetic
Concept Oligonucleotides, Antisense
Academic Article The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.
Academic Article Responsiveness to thyroid hormone is enhanced in rat hepatocytes cultured as spheroids compared with that in monolayers: altered responsiveness to thyroid hormone possibly involves complex formed on thyroid hormone response elements.
Academic Article Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).
Academic Article Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes.
Academic Article Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone.
Academic Article Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
Academic Article Detection of the thyroxine-binding globulin (TBG) gene in six unrelated families with complete TBG deficiency.
Academic Article A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
Academic Article Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß).
Academic Article Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism.
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