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One or more keywords matched the following items that are connected to Refetoff, Samuel
Item TypeName
Concept Receptors, Thyroid Hormone
Concept Thyroid Hormone Receptors alpha
Concept Thyroid Hormone Receptors beta
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 Neurocognitive characteristics of individuals with resistance to thyroid hormone: comparisons with individuals with attention-deficit hyperactivity disorder.
Academic Article Multiple genetic factors in the heterogeneity of thyroid hormone resistance.
Academic Article Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).
Academic Article Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.
Academic Article Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity.
Academic Article A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor.
Academic Article Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH).
Academic Article New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone.
Academic Article A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.
Academic Article A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH).
Academic Article Thyrotropin regulation by thyroid hormone in thyroid hormone receptor beta-deficient mice.
Academic Article Selective pituitary resistance to thyroid hormone produced by expression of a mutant thyroid hormone receptor beta gene in the pituitary gland of transgenic mice.
Academic Article Modification of thyroid hormone and 9-cis retinoic acid signaling by overexpression of their cognate receptors using adenoviral vector.
Academic Article 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 cofactor.
Academic Article Thyroid hormone action on liver, heart, and energy expenditure in thyroid hormone receptor beta-deficient mice.
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 Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
Academic Article Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance.
Academic Article Treatment of resistance to thyroid hormone--primum non nocere.
Academic Article Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.
Academic Article Thyroid hormone resistance.
Academic Article Resistance to thyroid hormone.
Academic Article Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.
Academic Article Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene.
Academic Article Type 1 iodothyronine deiodinase in the house musk shrew (Suncus murinus, Insectivora: Soricidae): cloning and characterization of complementary DNA, unique tissue distribution and regulation by T(3).
Academic Article Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
Academic Article Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone.
Academic Article RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor.
Academic Article Reduced nuclear triiodothyronine receptors in starvation-induced hypothyroidism.
Academic Article Resistance to thyroid hormone with and without receptor gene mutations.
Academic Article Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance.
Academic Article Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice.
Academic Article Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine.
Academic Article Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes.
Academic Article A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.
Academic Article A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child.
Academic Article Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo.
Academic Article Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor beta through the phosphatidylinositol 3-kinase pathway.
Academic Article Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface.
Academic Article Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action.
Academic Article International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors.
Academic Article Effects of maternal levels of thyroid hormone (TH) on the hypothalamus-pituitary-thyroid set point: studies in TH receptor beta knockout mice.
Academic Article Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Academic Article A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1).
Academic Article Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).
Academic Article A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
Academic Article A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.
Academic Article Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.
Academic Article Autoimmunity in patients with resistance to thyroid hormone.
Academic Article Thyroid hormone receptor a and regulation of type 3 deiodinase.
Academic Article Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.
Academic Article Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
Academic Article Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone.
Academic Article Resistance to thyroid hormone in a patient with thyroid dysgenesis.
Academic Article Resistance to thyroid hormone: an historical overview.
Academic Article Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK.
Academic Article The syndromes of resistance to thyroid hormone.
Academic Article Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone.
Academic Article A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone.
Academic Article Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
Academic Article Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ß and phosphatidylinositol 3-kinase activation.
Academic Article A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
Academic Article Expression of a thyroid hormone-responsive recombinant gene introduced into adult mice livers by replication-defective adenovirus can be regulated by endogenous thyroid hormone receptor.
Academic Article Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.
Academic Article How clinical observations of a congenital disease can be translated in terms of molecular biology.
Academic Article Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.
Academic Article Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK.
Academic Article Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom.
Academic Article Resistance to thyroid hormone and its molecular basis.
Academic Article In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) beta in TRbeta E457A knock-in and SRC-1 knockout mice.
Academic Article Approach to the patient with resistance to thyroid hormone and pregnancy.
Academic Article Nuclear thyroid hormone receptors in cultured human fibroblasts: improved method of isolation, partial characterization, and interaction with chromatin.
Academic Article Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with resistance to thyroid hormone.
Academic Article Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.
Academic Article Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K.
Academic Article A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.
Academic Article Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha.
Academic Article Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus.
Academic Article Thyroid hormone induces rapid activation of Akt/protein kinase B-mammalian target of rapamycin-p70S6K cascade through phosphatidylinositol 3-kinase in human fibroblasts.
Academic Article Resistance to thyroid hormone.
Academic Article Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family.
Academic Article Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.
Academic Article Reduced triiodothyronine content in liver but not pituitary of the uremic rat model: demonstration of changes compatible with thyroid hormone deficiency in liver only.
Academic Article Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?
Academic Article Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-beta mutants.
Academic Article Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.
Academic Article The syndromes of reduced sensitivity to thyroid hormone.
Academic Article Coexistence of THRB and TBG gene mutations in a Turkish family.
Academic Article Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
Academic Article A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma.
Academic Article Thyroid Hormone Action on Liver, Heart, and Energy Expenditure in Thyroid Hormone Receptor ß-Deficient Mice* * Presented in part at the 69th Annual Meeting of the American Thyroid Association Meeting, November 14-17, 1996, San Diego, California. This study was supported in part by the National Institutes of Health Grant DK-17050 and the Seymour J. Abrams Thyroid Research Center; a grant from the Ministry of Health and Welfare, Japan (to H.S.); and Grant-in-Aid for Scientific Research (0967104...
Academic Article A new TRß mutation in resistance to thyroid hormone syndrome.
Academic Article Changes in Hepatic TRß Protein Expression, Lipogenic Gene Expression, and Long-Chain Acylcarnitine Levels During Chronic Hyperthyroidism and Triiodothyronine Withdrawal in a Mouse Model.
Academic Article 13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action.
Academic Article Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature.
Academic Article Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß).
Academic Article Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Academic Article Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo.
Academic Article Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.
Academic Article A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.
Academic Article Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene.
Academic Article A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.
Academic Article Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation.
Academic Article Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta.
Academic Article Resistance to Thyroid Hormone Beta: A Focused Review.
Academic Article Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Grant 3RD INTERNATL WORKSHOP ON RESISTANCE TO THYROID HORMONE
Academic Article Effect of the Fetal THRB Genotype on the Placenta.
Academic Article The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function.
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  • Receptors Thyroid Hormone