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Search Results to Samuel Refetoff

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One or more keywords matched the following items that are connected to Refetoff, Samuel

Item TypeName
Concept Thyroid Hormones
Academic Article Attention-deficit hyperactivity disorder and thyroid function.
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 A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor.
Academic Article Thyrotropin regulation by thyroid hormone in thyroid hormone receptor beta-deficient mice.
Academic Article Modification of thyroid hormone and 9-cis retinoic acid signaling by overexpression of their cognate receptors using adenoviral vector.
Academic Article Effect of thyroid hormone on growth. Lessons from the syndrome of resistance to thyroid hormone.
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 Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone.
Academic Article Thyroid hormone action on liver, heart, and energy expenditure in thyroid hormone receptor beta-deficient mice.
Academic Article Torpor in mice is induced by both leptin-dependent and -independent mechanisms.
Academic Article Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case.
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 The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
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 Thyroid function in mice with compound heterozygous and homozygous disruptions of SRC-1 and TIF-2 coactivators: evidence for haploinsufficiency.
Academic Article Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance.
Academic Article Resistance to thyrotropin.
Academic Article Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine.
Academic Article Characterization and primary structures of bovine and porcine thyroxine-binding globulin.
Academic Article Fetal loss associated with excess thyroid hormone exposure.
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 Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Academic Article Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface.
Academic Article Nuclear receptors for thyroid hormone.
Academic Article Unique regulation of thyroid hormone metabolism during fasting in the house musk shrew (Suncus murinus, Insectivora: Soricidae).
Academic Article Preferential megalin-mediated transcytosis of low-hormonogenic thyroglobulin: a control mechanism for thyroid hormone release.
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 Novel biological and clinical aspects of thyroid hormone metabolism.
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 Sleep deprivation in the rat: XI. The effect of guanethidine-induced sympathetic blockade on the sleep deprivation syndrome.
Academic Article Thyroid hormone responsive genes in cultured human fibroblasts.
Academic Article X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
Academic Article The syndrome of inherited partial SBP2 deficiency in humans.
Academic Article Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
Academic Article A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.
Academic Article Autoimmunity in patients with resistance to thyroid hormone.
Academic Article Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
Academic Article The syndrome of generalized resistance to thyroid hormone (GRTH).
Academic Article Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
Academic Article Type 3 deiodinase deficiency results in functional abnormalities at multiple levels of the thyroid axis.
Academic Article A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism.
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 Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone.
Academic Article Studies of a sibship with apparent hereditary resistance to the intracellular action of 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, 10-11 July 1993, Cambridge, UK.
Academic Article The syndromes of resistance to thyroid hormone.
Academic Article Induction of hypothyroidism and hypoprolactinemia by growth hormone producing rat pituitary tumors.
Academic Article Dominant role of thyrotropin-releasing hormone in the hypothalamic-pituitary-thyroid axis.
Academic Article Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone.
Academic Article Serum tests for measurement of thyroid function.
Academic Article Inherited defects of thyroid hormone metabolism.
Academic Article Thyroid hormones and their receptors: from development to disease.
Academic Article Syndromes of thyroid hormone resistance.
Academic Article Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone.
Academic Article A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
Academic Article Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine-induced suppression of fibronectin synthesis.
Academic Article Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.
Academic Article Hyperthyroidism and adult celiac disease.
Academic Article Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with resistance to thyroid hormone.
Academic Article Resistance to thyroid hormone.
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 Interrelationships in the regulation of TSH and prolactin secretion in man: effects of L-dopa, TRH and thyroid hormone in various combinations.
Academic Article Thyroid hormone relationships between maternal and fetal circulations in human pregnancy at term: a study in patients with normal and abnormal thyroid function.
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 Comparison of thyroidectomized calf serum and stripped serum for the study of thyroid hormone action in human skin fibroblasts in vitro.
Academic Article Diagnosis and management of thyroid diseases in pregnancy.
Academic Article The consequences of inappropriate treatment because of failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone.
Academic Article Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone.
Academic Article Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with 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, July 10-11th 1993, Cambridge, U.K.
Academic Article Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha.
Academic Article Resistance to thyroid hormone.
Academic Article Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family.
Academic Article Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Academic Article A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
Academic Article Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice.
Academic Article Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Academic Article Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration.
Academic Article Neonatal hypothyroidism and goiter in one infant of each of two sets of twins due to maternal therapy with antithyroid drugs.
Academic Article Parameters of thyroid function in maternal and cord serum at term pregnancy.
Academic Article Thyroid hormone therapy.
Academic Article The syndromes of reduced sensitivity to thyroid hormone.
Academic Article Changes in thyroid status during perinatal development of MCT8-deficient male mice.
Academic Article Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.
Academic Article Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
Academic Article Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
Academic Article American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models.
Academic Article Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings.
Academic Article Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8).
Academic Article Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
Academic Article Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
Academic Article The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
Academic Article Inherited defects of thyroxine-binding proteins.
Academic Article Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice.
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 Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.
Academic Article An Essential Physiological Role for MCT8 in Bone in Male Mice.
Academic Article Resistance to thyrotropin.
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 GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation.
Academic Article NFE2-Related Transcription Factor 2 Coordinates Antioxidant Defense with Thyroglobulin Production and Iodination in the Thyroid Gland.
Academic Article Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.
Academic Article Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.
Academic Article Class III PI3K Vps34 Controls Thyroid Hormone Production by Regulating Thyroglobulin Iodination, Lysosomal Proteolysis, and Tissue Homeostasis.
Academic Article Intracerebroventricular administration of the thyroid hormone analog TRIAC increases its brain content in the absence of MCT8.
Academic Article Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement.
Academic Article Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
Academic Article Intranasal delivery of Thyroid hormones in MCT8 deficiency.
Academic Article XB130 Deficiency Causes Congenital Hypothyroidism in Mice due to Disorganized Apical Membrane Structure and Function of Thyrocytes.
Academic Article Pathogenesis of Multinodular Goiter in Elderly XB130-Deficient Mice: Alteration of Thyroperoxidase Affinity with Iodide and Hydrogen Peroxide.
Academic Article Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Academic Article Thyroidal Transcriptomic Profiles of Pathoadaptive Responses to Congenital Hypothyroidism in XB130 Knockout Mice.

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