The University of Chicago Header Logo

Search Result Details

Back to Search Results
This page shows the details of why an item matched the keywords from your search.
Search Results
Refetoff, Samuel
One or more keywords matched the following items that are connected to Refetoff, Samuel
Item TypeName
Concept Amino Acids
Concept Bile Acids and Salts
Concept Amino Acid Sequence
Concept Central Nervous System Diseases
Concept Biological Transport, Active
Concept Aspartic Acid
Concept Biological Transport
Concept Complement System Proteins
Concept Cell-Free System
Concept Endocrine System Diseases
Concept Hypothalamo-Hypophyseal System
Concept Fatty Acids
Concept Fatty Acids, Unsaturated
Concept Nucleic Acid Hybridization
Concept RNA, Transfer, Amino Acyl
Concept Nervous System Diseases
Concept Nucleic Acid Conformation
Concept Sequence Homology, Nucleic Acid
Concept Iopanoic Acid
Concept Regulatory Sequences, Nucleic Acid
Concept Sympathetic Nervous System
Concept Sequence Homology, Amino Acid
Concept Trichloroacetic Acid
Concept Receptors, Retinoic Acid
Concept Protein Transport
Concept Amino Acid Transport Systems, Neutral
Concept Nucleic Acid Denaturation
Concept Amino Acid Substitution
Concept Active Transport, Cell Nucleus
Concept Monocarboxylic Acid Transporters
Concept Organic Cation Transport Proteins
Concept Organic Anion Transporters, Sodium-Independent
Concept Sialic Acids
Concept Butyric Acid
Concept Repetitive Sequences, Amino Acid
Concept Anion Transport Proteins
Concept Two-Hybrid System Techniques
Concept MAP Kinase Signaling System
Concept Organic Anion Transporters
Concept Pituitary-Adrenal System
Concept Membrane Transport Proteins
Concept Amino Acid Transport System y+
Concept Amino Acid Transport System y+L
Concept Glucose Transporter Type 4
Concept Young Adult
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 Resistance to thyrotropin and other abnormalities of the thyrotropin receptor.
Academic Article Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene.
Academic Article Modification of thyroid hormone and 9-cis retinoic acid signaling by overexpression of their cognate receptors using adenoviral vector.
Academic Article Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.
Academic Article Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.
Academic Article Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions.
Academic Article Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
Academic Article Identification of thyroxine-binding globulin-San Diego in a family from Houston and its characterization by in vitro expression using Xenopus oocytes.
Academic Article Low serum free thyroxine index in ambulating elderly is due to a resetting of the threshold of thyrotropin feedback suppression.
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 Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance.
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 Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.
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 RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor.
Academic Article Resistance to thyrotropin.
Academic Article A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
Academic Article Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice.
Academic Article Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency.
Academic Article Genomic organization of mouse ZAKI-4 gene that encodes ZAKI-4 alpha and beta isoforms, endogenous calcineurin inhibitors, and changes in the expression of these isoforms by thyroid hormone in adult mouse brain and heart.
Academic Article Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.
Academic Article Three novel mutations causing complete T(4)-binding globulin deficiency.
Academic Article Characterization and primary structures of bovine and porcine thyroxine-binding globulin.
Academic Article Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
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 Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo.
Academic Article Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation.
Academic Article Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface.
Academic Article Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.
Academic Article Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect.
Academic Article Defective thyroglobulin storage in LDL receptor-associated protein-deficient mice.
Academic Article Delineation of the discontinuous-conformational epitope of a monoclonal antibody displaying full in vitro and in vivo thyrotropin activity.
Academic Article Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks.
Academic Article The syndrome of resistance to thyroid stimulating hormone.
Academic Article Triiodothyronine stimulates specifically growth hormone mRNA in rat pituitary tumor cells.
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 Comparison of primary and secondary stimulation of male rats by estradiol in terms of prolactin synthesis and mRNA accumulation in the pituitary.
Academic Article Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
Academic Article Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine.
Academic Article X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
Academic Article Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.
Academic Article A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
Academic Article Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
Academic Article Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
Academic Article Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
Academic Article Oncogenic Kras requires simultaneous PI3K signaling to induce ERK activation and transform thyroid epithelial cells in vivo.
Academic Article A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
Academic Article Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
Academic Article Inherited thyroxine-binding globulin abnormalities in man.
Academic Article Hybridization of RNA labelled with 125 I to high specific activity.
Academic Article Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes.
Academic Article Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation.
Academic Article The syndromes of resistance to thyroid hormone.
Academic Article Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties.
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 The differential stimulatory effect of thyroid hormone on growth hormone synthesis and estrogen on prolactin synthesis due to accumulation of specific messenger ribonucleic acids.
Academic Article Radioautographic localization of prolactin messenger RNA on histological sections by in situ hybridization.
Academic Article Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago.
Academic Article Direct application of radioiodinated aminoacyl tRNA for radiolabeling nascent proteins.
Academic Article Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine-induced suppression of fibronectin synthesis.
Academic Article Genetic polymorphism in rhesus C3 and Gc globulin.
Academic Article Peroxidase defect in congenital goiter with complete organification block.
Academic Article Bidirectional thyroxine exchange in pregnant sheep.
Academic Article Modulation of thyroglobulin messenger RNA accumulation in the rat thyroid.
Academic Article Isolation of rat prolactin messenger ribonucleic acid and synthesis of the complementary deoxyribonucleic acid.
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 Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats.
Academic Article Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.
Academic Article Radioiodine labeling of ribopolymers for special applications in biology.
Academic Article Radioimmunoassays specific for the tertiary and primary structures of thyroxine-binding globulin (TBG): measurement of denatured TBG in serum.
Academic Article White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
Academic Article Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
Academic Article The radioiodination of ribopolymers for use in hybridizational and molecular analyses.
Academic Article Molecular cloning of an orphan G-protein-coupled receptor that constitutively activates adenylate cyclase.
Academic Article Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
Academic Article Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with 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 A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.
Academic Article Molecular cloning and primary structure of rat thyroxine-binding globulin.
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 Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
Academic Article Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Academic Article Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
Academic Article A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.
Academic Article Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.
Academic Article The action of thyroid hormone.
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 Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation.
Academic Article Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy.
Academic Article Reduced clearance rate of thyroxine-binding globulin (TBG) with increased sialylation: a mechanism for estrogen-induced elevation of serum TBG concentration.
Academic Article Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus.
Academic Article Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
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 A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
Academic Article Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.
Academic Article Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading.
Academic Article Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
Academic Article Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Academic Article Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings.
Academic Article Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels.
Academic Article Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8).
Academic Article A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
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 Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
Academic Article A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.
Academic Article The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
Academic Article Diiodothyropropionic acid (DITPA) cross-reacts with thyroid function assays on different immunoassay platforms.
Academic Article Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.
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 Overexpression of Interleukin-4 in the Thyroid of Transgenic Mice Upregulates the Expression of Duox1 and the Anion Transporter Pendrin.
Academic Article A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.
Academic Article Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier.
Academic Article An Essential Physiological Role for MCT8 in Bone in Male Mice.
Academic Article Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
Academic Article Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Academic Article Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
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 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 Intracerebroventricular administration of the thyroid hormone analog TRIAC increases its brain content in the absence of MCT8.
Academic Article Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
Academic Article Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß.
Academic Article Intranasal delivery of Thyroid hormones in MCT8 deficiency.
Academic Article Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
Academic Article Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta.
Academic Article Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Academic Article Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms.
Academic Article XB130 Plays an Essential Role in Folliculogenesis Through Mediating Interactions Between Microfilament and Microtubule Systems in Thyrocytes.
Academic Article AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
Concept Acid Sensing Ion Channels
Grant 3RD INTERNATL WORKSHOP ON RESISTANCE TO THYROID HORMONE
Grant THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS
Grant STUDIES ON REGULATION AND MECHANISM OF HORMONE ACTION
Academic Article ASIC1a affects hypothalamic signaling and regulates the daily rhythm of body temperature in mice.
Academic Article Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
Search Criteria
  • Amino
  • Acid
  • Transport
  • System
  • y